ZMP
PITPNM2
Ensembl ID:
Description:
phosphatidylinositol transfer protein, membrane-associated 2 [Source:HGNC Symbol;Acc:21044]
Human Orthologue:
PITPNM2
Human Description:
phosphatidylinositol transfer protein, membrane-associated 2 [Source:HGNC Symbol;Acc:21044]
Mouse Orthologue:
Pitpnm2
Mouse Description:
phosphatidylinositol transfer protein, membrane-associated 2 Gene [Source:MGI Symbol;Acc:MGI:1336192
Alleles
There are 9 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38815 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa6138 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa7288 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa9834 | Nonsense | Available for shipment | Available now |
| sa41742 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa7289 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa17312 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38815
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Essential Splice Site | 27 | 1285 | 2 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46421877)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 11751 |
| GRCz11 | KN150191.1 | 11751 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAATGCATTATAAAGAAGCTGTGTGTGTGTGTGTGTGTGTGTGTCCATC[T/A]GCAGAAGAAGAGTCGTGAGGAGAGCGAGGGCGAGGGCAGCGGTGTGGAGA
Long Flanking Sequence:
TACTGATAATGAAAATCTACTGATGCATGACAGGCTTATGATAGATAAGAAGAGCTACTGATGATGAAGGGGAGGAGCAACTTATGCGTGAGATGGGAGGAGCTACTGATGATGAAGGGAAACTGATGATAAATGGGGAGGAGCTATTGATGTATGGGAGGGGCTACTGGTAAAGGGGAGGAGCTGTTAGTCGCTGAGCTTGGATTAGTTTATTTACTGAACTGGACTGAGCTGTGTTAGTGGTTCTGCTGGTGAGTGTGGTTATGTTCATCATAGTTTGCTGGTTTATTTCACTGATTCTGCTGATGATGAATGGTCTGAATGATCCTACAGTGAAACACTGCTCATTTGGGACGACACTAAATACCACACGACACGGTTGAGTGTATGAGTCCGCAGTATATAAGTGTTCAGTGTGTCATGTGTGACGCAGCCCTGGTGTGTGTTGTGTAAATGCATTATAAAGAAGCTGTGTGTGTGTGTGTGTGTGTGTGTCCATC[T/A]GCAGAAGAAGAGTCGTGAGGAGAGCGAGGGCGAGGGCAGCGGTGTGGAGATCCTGGAGAACCGGCCCTACACCGACGGCCCTGGCGGATCCGGACAATACACACGCAAGGTGTACCACATCGGCCAGCACATCCCCAGCTGGTTCCGCTCCATCCTGCCCAAAGCAGCGCTGCGCGTGGAGGAGGAGTCCTGGAACGCATACCCATACACACGCACACGGTCAGTATGAGCACACACACACACACACACACACGGTCAGCTCATTCTGCAGGACCCACAACACATTTAGAAAGGGTCAGTTCACACACAAATGATGTTCAGCCATGCAGACCGGTCACCATTGACTTCTACAGTAACAAAAACAATACAGAAGTCAATGGTGACCGGTCTCCAGCATTCTTCACAGGATCTTCTTTAGTGTTCAACAGATGAAGGAAACTCATGAAGGTTTGAAACAAGCATGTCTGTATGATCATTTGTGTGTGAACTGACCTAAATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6138
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Essential Splice Site | 552 | 1285 | 13 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46437860)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 27734 |
| GRCz11 | KN150191.1 | 27734 |
KASP Assay ID:
554-3657.1 (used for ordering genotyping assays)
KASP Sequence:
AATCCAYCACCTTCCTGCACGATGGTGMCATSAGAAATGAAGTCAAACAG[G/A]TGRGCAATGAGTGAAGCTGCTGCTGCTGCNNNTCTGCATATTAACCGCAR
Long Flanking Sequence:
ACCCTCAAAACACACAGACATAAAGAGTCAGCGTACGCTTCTCAACTATAGTGAGCTTTGTTTTCCTGCAGTGCATGCTGGGAGCTATGGGTGAATGTGGTATGAGTCTTTTACCATCCACTGCAGCCAAAACAAGTAAGACATCTCTCAGCACTGTTAAGATAGACACGCTGATCATTGATCTCTGTCTCTAGAGTGATTCAGATGCTCAATGTGTTTTAAAAATAAGCACAGCTGAGGTCCATTCTCCTAAAAACACTGAATTATGTTTCTTAATGATCAACCATCATTTAAATATAGTTTGCAGAGTCAGGCATAATCTCTTATATTTCTCACCAAGAGTAAGAATCAATACAGAATCAGTCAACCTGATCATATTTACTCTCTTTATTCTTATCATAACAAGCAAAGACTAATCAACACTAGAATTTGAGTCAAAGAGCCCAAGTAAATCCACCACCTTCCTGCACGATGGTGACATCAGAAATGAAGTCAAACAG[G/A]TGGGCAATGAGTGAAGCTGCTGCTGCTGCTCTTCTGCATATTAACCGCAGGTGTTCATCATCAGCACTTAATTAACCCCCTCATTGTCTCGTTAACTTGAACTCTGCTGTTGAGTAAATTTAACTCCATTTAGAGAGAGCAAATACTCTCTGAACTGAGCAACTTTTACTGTGAGGAGTTTGCTGTGGGCTGGAGATTAGCTCTTGTCATTGGGGGGACGTACATCCCTAGAGCGCATGCATAGAGCAGCACACATTCACACTTTTAAAAACATGAATAAAATACCCAATAATGTCAAATAAACACTTAATAATACAAATAACAATCCCGCTCCATGCTGCAAGAGTCAGTTACCATGATTGTACTGCAGTCGGGCTTTGAGCAGGTAGAGAGGTGTGGAGAGGTGTGTGACGCAGTTCACTGGTTTGCAAAACTGATTGGCCAAATGCAAAACTATTTTGAGTGATTGGCACTGCCGTGGGTAATAGTATAACGGTCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7288
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Nonsense | 558 | 1285 | 14 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46440385)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 30259 |
| GRCz11 | KN150191.1 | 30259 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTCGCTGTTTCCATCRCAGKTYATGCRCATCTCWGCGTTTCCATCAAT[C/T]GATTTTCATRTTGTGTGTGTTGGAGACAAAAAATACCCACACACTTRCAG
Long Flanking Sequence:
TTCAGCTCATGCTGATCTGCTCTCTCATTGGCTGCAGCTCGTCACTACATCTGACCACACGTGGGGTTGAGTCGGCCGACTGCTCTGGAATATTCAGCATGCTGAATGTTGGATTTCCGTCTGCGAGGTGTCGGCGACGCGTCAGCGAGCCTCGTTGATGCGTTGTTCAGTAGTTCACACATAAAGAGCGGCGAGCGCCGAGCACCCGCAGATTTCTTCCCGATCACAGCCCGATCTGTCGGCGAGCTCGTTAACTTCCACATCGGGCTCAAATCAGGCTTAAAATCCGTTAGTGTGAACTAGGCATAAGGAGATTTAGATTGACCAAATCAACATGTCAGATGTTCTACAGTGTGCTCAGCCTGCTGGATTATCCATTTACACACGTGTTCATCATCATACCATCTCTCATAACACAATCACATCACCTTTAACTCGCATACTGGAATTTATTCGCTGTTTCCATCGCAGGTCATGCGCATCTCAGCGTTTCCATCAAT[C/T]GATTTTCATATTGTGTGTGTTGGAGACAAAAAATACCCACACACTTACAGATTTGCTCTGAGTACAGATTCACTGATACACACTTTACAACCACACATGACACTTCTACAGCTGCTTGGGAGTTTTGCACCAAAAAGACCTTCATAAGTGTGTAACACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCCTGCAGGACAGTGAGCTGTTGTCTCCAGGCATCATCATCAACTGTAGCGGCTCTGGCGGCAGCAGTAACAGCGCTCTGTCTCTAGAGGGCAGCCGTCACCTGAGCCGCAGCAACATCGACATCCCGCGCTGCAGCGCTGCAGACGAACACAAGAAGCAGCTGCCGCGCAAACGCAGCGACTCGTCAACGTACGAGATCGACACCATCAAACAACACCAGGCCTTCCTCAGCAGGTGCGCGCACACACACACACACACACACGCACACACACACACACACGCACACACATACACACACACAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9834
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Nonsense | 579 | 1285 | 14 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46440450)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 30324 |
| GRCz11 | KN150191.1 | 30324 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTGTTGGAGACAAAAAATACCCACACACTTRCAGATTTGCTCTGAGTA[C/A]AGATTCACTGATACACACTTYACAACCACACAKGACACTTCTACAGCTGC
Long Flanking Sequence:
GTTGAGTCGGCCGACTGCTCTGGAATATTCAGCATGCTGAATGTTGGATTTCCGTCTGCGAGGTGTCGGCGACGCGTCAGCGAGCCTCGTTGATGCGTTGTTCAGTAGTTCACACATAAAGAGCGGCGAGCGCCGAGCACCCGCAGATTTCTTCCCGATCACAGCCCGATCTGTCGGCGAGCTCGTTAACTTCCACATCGGGCTCAAATCAGGCTTAAAATCCGTTAGTGTGAACTAGGCATAAGGAGATTTAGATTGACCAAATCAACATGTCAGATGTTCTACAGTGTGCTCAGCCTGCTGGATTATCCATTTACACACGTGTTCATCATCATACCATCTCTCATAACACAATCACATCACCTTTAACTCGCATACTGGAATTTATTCGCTGTTTCCATCGCAGGTCATGCGCATCTCAGCGTTTCCATCAATCGATTTTCATATTGTGTGTGTTGGAGACAAAAAATACCCACACACTTACAGATTTGCTCTGAGTA[C/A]AGATTCACTGATACACACTTTACAACCACACATGACACTTCTACAGCTGCTTGGGAGTTTTGCACCAAAAAGACCTTCATAAGTGTGTAACACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCCTGCAGGACAGTGAGCTGTTGTCTCCAGGCATCATCATCAACTGTAGCGGCTCTGGCGGCAGCAGTAACAGCGCTCTGTCTCTAGAGGGCAGCCGTCACCTGAGCCGCAGCAACATCGACATCCCGCGCTGCAGCGCTGCAGACGAACACAAGAAGCAGCTGCCGCGCAAACGCAGCGACTCGTCAACGTACGAGATCGACACCATCAAACAACACCAGGCCTTCCTCAGCAGGTGCGCGCACACACACACACACACACACGCACACACACACACACACGCACACACATACACACACACACACACAACAGAAGCAGGAGGAGTAGTGTAAAATAACCTTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41742
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Nonsense | 597 | 1285 | 14 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46440504)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 30378 |
| GRCz11 | KN150191.1 | 30378 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCACTGATACACACTTTACAACCACACATGACACTTCTACAGCTGCTTG[G/A]GAGTTTTGCACCAAAAAGACCTTCATAAGTGTGTAACACCTGTGTGTGTG
Long Flanking Sequence:
TCTGCGAGGTGTCGGCGACGCGTCAGCGAGCCTCGTTGATGCGTTGTTCAGTAGTTCACACATAAAGAGCGGCGAGCGCCGAGCACCCGCAGATTTCTTCCCGATCACAGCCCGATCTGTCGGCGAGCTCGTTAACTTCCACATCGGGCTCAAATCAGGCTTAAAATCCGTTAGTGTGAACTAGGCATAAGGAGATTTAGATTGACCAAATCAACATGTCAGATGTTCTACAGTGTGCTCAGCCTGCTGGATTATCCATTTACACACGTGTTCATCATCATACCATCTCTCATAACACAATCACATCACCTTTAACTCGCATACTGGAATTTATTCGCTGTTTCCATCGCAGGTCATGCGCATCTCAGCGTTTCCATCAATCGATTTTCATATTGTGTGTGTTGGAGACAAAAAATACCCACACACTTACAGATTTGCTCTGAGTACAGATTCACTGATACACACTTTACAACCACACATGACACTTCTACAGCTGCTTG[G/A]GAGTTTTGCACCAAAAAGACCTTCATAAGTGTGTAACACCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCCTGCAGGACAGTGAGCTGTTGTCTCCAGGCATCATCATCAACTGTAGCGGCTCTGGCGGCAGCAGTAACAGCGCTCTGTCTCTAGAGGGCAGCCGTCACCTGAGCCGCAGCAACATCGACATCCCGCGCTGCAGCGCTGCAGACGAACACAAGAAGCAGCTGCCGCGCAAACGCAGCGACTCGTCAACGTACGAGATCGACACCATCAAACAACACCAGGCCTTCCTCAGCAGGTGCGCGCACACACACACACACACACACGCACACACACACACACACGCACACACATACACACACACACACACAACAGAAGCAGGAGGAGTAGTGTAAAATAACCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7289
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Nonsense | 877 | 1285 | 22 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46445195)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 35069 |
| GRCz11 | KN150191.1 | 35069 |
KASP Assay ID:
554-5138.1 (used for ordering genotyping assays)
KASP Sequence:
AAACGCAGCTTCACGTCTCGTTGTCAGATCAGTGTGTGAGCCGCWGGAGY[T/A]GACGGCGTCCCSCTMCTGTAGAGCTAACGTTACCCTAATTACCCYAGTGA
Long Flanking Sequence:
ATCTGCTTTTCCCTTCACTCATGTTGAATCAGATCAGCCTTTTACAAATGAAGCATTGTGAGTGTGTGTAGCGCTGGGTTGGGGAGCATGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACCTGTGCTCTGCTCTCCACAGCGGACGTCATGCAGTCTCACGGCCTCATGTTTTCCGAGCACTCGAACCCGTCGTCTCCGGCGGCCATTCCAGCGTTTCGAGGAGCGCGGCGGGCGAGCGAGACCAGCATCGCCAGCCAGGTGTCAGGACTCGCAGACAGCTACACCGCTAGCAACATCGCTAACAGTGAGTCTCACACACACACACACTCAATCACACACTTTCACACACACACTTCAGCAGTTGCACACACATACAGTAATGCAGTGTGTGCGTGTGTGTGTGATGGTGTAGAGGAAACGCAGCTTCACGTCTCGTTGTCAGATCAGTGTGTGAGCCGCTGGAGT[T/A]GACGGCGTCCCCCTCCTGTAGAGCTAACGTTACCCTAATTACCCCAGTGAAGCCTTACATGTCTGAACACTGGTGTCTTGAAGAAGATCTAGTCTCATATTATGTGCTGTGGTGACGGCACGGTGGCGCAGTGGTCAGCCCTGTGGCCTCACAGCAAGAGGGTCTCTGGTTTGAGTCTCGGCTGGGTCAGTTGGTGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGTGTGGGTTTCCTCCAGGTGCTCCGGTTTCCCCCACAGTCCAAACACATGCGCTATAGGGGAACTGATCAACTACACTGGCCATAGTGTATGAGTGTGTGTGTGAGAATGAGTGTGTATGGGTGTTTCCCAGTACTGGGTTGCAGCTAGAAGGGCATCCGGTGTGTGTGAGTGAGTGTGTGAGTGTGTGAGTGAGTGAGTGTGTGATTGAGTGAGTGAGTGTGTGAGTGAGTGAGTGTGTGAGTGAGTGTGTGAGTGAATGAGTGTGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17312
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060194 | Essential Splice Site | 886 | 1285 | 22 | 32 |
Genomic Location (Zv9):
Chromosome 10 (position 46445223)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150191.1 | 35097 |
| GRCz11 | KN150191.1 | 35097 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAGTGTGTGAGCCGCTGGAGYTGACGGCGTCCCSCTMCTGTAGAGCTAA[C/A]GTYACCCTAATTACCCYAGTGAAGCCTTACATGTCTGAACACTGGTGTCT
Long Flanking Sequence:
TCAGATCAGCCTTTTACAAATGAAGCATTGTGAGTGTGTGTAGCGCTGGGTTGGGGAGCATGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACCTGTGCTCTGCTCTCCACAGCGGACGTCATGCAGTCTCACGGCCTCATGTTTTCCGAGCACTCGAACCCGTCGTCTCCGGCGGCCATTCCAGCGTTTCGAGGAGCGCGGCGGGCGAGCGAGACCAGCATCGCCAGCCAGGTGTCAGGACTCGCAGACAGCTACACCGCTAGCAACATCGCTAACAGTGAGTCTCACACACACACACACTCAATCACACACTTTCACACACACACTTCAGCAGTTGCACACACATACAGTAATGCAGTGTGTGCGTGTGTGTGTGATGGTGTAGAGGAAACGCAGCTTCACGTCTCGTTGTCAGATCAGTGTGTGAGCCGCTGGAGTTGACGGCGTCCCCCTCCTGTAGAGCTAA[C/A]GTTACCCTAATTACCCCAGTGAAGCCTTACATGTCTGAACACTGGTGTCTTGAAGAAGATCTAGTCTCATATTATGTGCTGTGGTGACGGCACGGTGGCGCAGTGGTCAGCCCTGTGGCCTCACAGCAAGAGGGTCTCTGGTTTGAGTCTCGGCTGGGTCAGTTGGTGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGTGTGGGTTTCCTCCAGGTGCTCCGGTTTCCCCCACAGTCCAAACACATGCGCTATAGGGGAACTGATCAACTACACTGGCCATAGTGTATGAGTGTGTGTGTGAGAATGAGTGTGTATGGGTGTTTCCCAGTACTGGGTTGCAGCTAGAAGGGCATCCGGTGTGTGTGAGTGAGTGTGTGAGTGTGTGAGTGAGTGAGTGTGTGATTGAGTGAGTGAGTGTGTGAGTGAGTGAGTGTGTGAGTGAGTGTGTGAGTGAATGAGTGTGTGAGTGAGCGAGTGAGTGAGTGAGTGAGTG
Associated Phenotype:
Not determined