ZMP

PITPNM2

Ensembl ID:

ENSDARG00000041100

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
sa9834	Nonsense	Available for shipment	Available now
sa17312	Essential Splice Site	Available for shipment	Available now

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.

Availability:

Order Allele From ZIRC
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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:

sa17312

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

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