ZMP
ppt2
Ensembl ID:
ZFIN ID:
Description:
lysosomal thioesterase PPT2 [Source:RefSeq peptide;Acc:NP_001103329]
Human Orthologue:
PPT2
Human Description:
palmitoyl-protein thioesterase 2 [Source:HGNC Symbol;Acc:9326]
Mouse Orthologue:
Ppt2
Mouse Description:
palmitoyl-protein thioesterase 2 Gene [Source:MGI Symbol;Acc:MGI:1860075]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43254 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa36813 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa6550 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa1557 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43254
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104421 | Essential Splice Site | 130 | 298 | 3 | 9 |
| ENSDART00000125696 | Essential Splice Site | 130 | 169 | 3 | 5 |
Genomic Location (Zv9):
Chromosome 19 (position 18436056)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 19281291 |
| GRCz11 | 19 | 18854244 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTACACTCTTTTATATCTCTGTCTGCTCCACAGGCAGGACAGTATGGAGG[T/C]AACCCACTTTTTAGTTCTGCTGAGGAACACATTTAAAACATGCTGACCTA
Long Flanking Sequence:
GCTGTTTTGCAACATTAGAATTTACTATGGTTTCTCTGCCATTGAAAAAGACGCAACAAGGTATATGATAAAACTGGACAATTGAATAGAACCCCAGTTGTCATTGTTTTTATTTTTTTATTTATTTAATTTTCCGATATATTGACATTACTTTTATACATTTTACATTTAAAGCAGTCTAATTGAAATGCAGATGGCATCATGATTTGTAAAAGCTTTATGAGAAATTTGTTAACAAGTGCAGTTTGGGTTGTTCTTAATTGTCAGATGAATAATTGAATAAAATGCACAAAACAAAGATTAATTTAGTTTGAACTAAATATTTTTTTCTTTGTGATTTGAGTCAGAGGTGTTCGTTATTATATATAACACTAATGCAAGGCCATGTCTAATTGTGTCGCAGGTGGCTTGGTATGTCGAGGAATTCTGTCCACTCTCCCAGACCATAATGTACACTCTTTTATATCTCTGTCTGCTCCACAGGCAGGACAGTATGGAGG[T/C]AACCCACTTTTTAGTTCTGCTGAGGAACACATTTAAAACATGCTGACCTAGTTAACCGTAGAATTGAATGTTTTTGTGTTATGTGAATATTTGGAAATATTTACTTTTACAGTTCTGCTTAAGTTTCTTTTTTTTTAAATTAATTTTGTCTGTTTGCAGACACAGACTATTTGAAGTACCTGTTCCCTCAGTTTGTCAAATCCAACTTGTTTCATGTATGCTATACTGCAGTGGGCCAGAAAATATCAATCTGTAACTACTGGAATGGTGAGTATGGATTGATCATGCATGTCATATTTAAAGTAAGAGAGAGAGAGAGATATTACTACAATTTGCAAATGCTTTGTCTGTTATTTTTCAAATTCTAATGAGTTTATGTAAATGGAATTTCACTTGCATTGGTTATACTTGGTGCTTTGAACAAAACAATAAAAAAGGCTAATAAATTGCTTGAATTATTAGTAATATGTATATTAATTATGCAGCACATTGTGCTTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36813
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 |
|---|---|---|---|---|---|
| ENSDART00000104421 | Essential Splice Site | 166 | 298 | 4 | 9 |
| ENSDART00000125696 | Essential Splice Site | 166 | 169 | 4 | 5 |
| ENSDART00000104421 | Essential Splice Site | 166 | 298 | 4 | 9 |
| ENSDART00000125696 | Essential Splice Site | 166 | 169 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 19 (position 18435787)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 19281022 |
| GRCz11 | 19 | 18853975 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTATACTGCAGTGGGCCAGAAAATATCAATCTGTAACTACTGGAATGG[T/A]GAGTATGGATTGATCATGCATGTCATATTTAAAGTAAGAGAGAGAGAGAG
Long Flanking Sequence:
GAATAATTGAATAAAATGCACAAAACAAAGATTAATTTAGTTTGAACTAAATATTTTTTTCTTTGTGATTTGAGTCAGAGGTGTTCGTTATTATATATAACACTAATGCAAGGCCATGTCTAATTGTGTCGCAGGTGGCTTGGTATGTCGAGGAATTCTGTCCACTCTCCCAGACCATAATGTACACTCTTTTATATCTCTGTCTGCTCCACAGGCAGGACAGTATGGAGGTAACCCACTTTTTAGTTCTGCTGAGGAACACATTTAAAACATGCTGACCTAGTTAACCGTAGAATTGAATGTTTTTGTGTTATGTGAATATTTGGAAATATTTACTTTTACAGTTCTGCTTAAGTTTCTTTTTTTTTAAATTAATTTTGTCTGTTTGCAGACACAGACTATTTGAAGTACCTGTTCCCTCAGTTTGTCAAATCCAACTTGTTTCATGTATGCTATACTGCAGTGGGCCAGAAAATATCAATCTGTAACTACTGGAATGG[T/A]GAGTATGGATTGATCATGCATGTCATATTTAAAGTAAGAGAGAGAGAGAGATATTACTACAATTTGCAAATGCTTTGTCTGTTATTTTTCAAATTCTAATGAGTTTATGTAAATGGAATTTCACTTGCATTGGTTATACTTGGTGCTTTGAACAAAACAATAAAAAAGGCTAATAAATTGCTTGAATTATTAGTAATATGTATATTAATTATGCAGCACATTGTGCTTTTTGTCAGCAATTGTCAACATTTTCTTGCTGCTTGTGTTTCTGACCAGATATACCTTTTTGTGTTAATGTGCCTAATTAGTAGCAGTTTCTATTGGATGTTTCAATATTGAACTTTGCTGTCATACAATGGCTAAATTAGTACAATAATATCACAAGATTTTAACTGGTGGTGCATATATGGGTCTTGGTGCTGTGGACTATTTTTAGGCATTGCATAATATCATTGCGTCTCAAGTTCCTTGATTATTACTCTACTACTTGTATGACACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6550
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104421 | Essential Splice Site | 166 | 298 | 4 | 9 |
| ENSDART00000125696 | Essential Splice Site | 166 | 169 | 4 | 5 |
| ENSDART00000104421 | Essential Splice Site | 166 | 298 | 4 | 9 |
| ENSDART00000125696 | Essential Splice Site | 166 | 169 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 19 (position 18435787)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 19281022 |
| GRCz11 | 19 | 18853975 |
KASP Assay ID:
554-5450.1 (used for ordering genotyping assays)
KASP Sequence:
TGCTATACTGCAGTGGGCCAGAAAATATCAATCTGTAAYTACTGGAATGG[T/C]GAGTATGGATTGATCATGCATGTCATATTTAAAGTAAGAGAGAGAGAGAG
Long Flanking Sequence:
GAATAATTGAATAAAATGCACAAAACAAAGATTAATTTAGTTTGAACTAAATATTTTTTTCTTTGTGATTTGAGTCAGAGGTGTTCGTTATTATATATAACACTAATGCAAGGCCATGTCTAATTGTGTCGCAGGTGGCTTGGTATGTCGAGGAATTCTGTCCACTCTCCCAGACCATAATGTACACTCTTTTATATCTCTGTCTGCTCCACAGGCAGGACAGTATGGAGGTAACCCACTTTTTAGTTCTGCTGAGGAACACATTTAAAACATGCTGACCTAGTTAACCGTAGAATTGAATGTTTTTGTGTTATGTGAATATTTGGAAATATTTACTTTTACAGTTCTGCTTAAGTTTCTTTTTTTTTAAATTAATTTTGTCTGTTTGCAGACACAGACTATTTGAAGTACCTGTTCCCTCAGTTTGTCAAATCCAACTTGTTTCATGTATGCTATACTGCAGTGGGCCAGAAAATATCAATCTGTAACTACTGGAATGG[T/C]GAGTATGGATTGATCATGCATGTCATATTTAAAGTAAGAGAGAGAGAGAGATATTACTACAATTTGCAAATGCTTTGTCTGTTATTTTTCAAATTCTAATGAGTTTATGTAAATGGAATTTCACTTGCATTGGTTATACTTGGTGCTTTGAACAAAACAATAAAAAAGGCTAATAAATTGCTTGAATTATTAGTAATATGTATATTAATTATGCAGCACATTGTGCTTTTTGTCAGCAATTGTCAACATTTTCTTGCTGCTTGTGTTTCTGACCAGATATACCTTTTTGTGTTAATGTGCCTAATTAGTAGCAGTTTCTATTGGATGTTTCAATATTGAACTTTGCTGTCATACAATGGCTAAATTAGTACAATAATATCACAAGATTTTAACTGGTGGTGCATATATGGGTCTTGGTGCTGTGGACTATTTTTAGGCATTGCATAATATCATTGCGTCTCAAGTTCCTTGATTATTACTCTACTACTTGTATGACACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1557
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104421 | Nonsense | 197 | 298 | 6 | 9 |
| ENSDART00000125696 | None | None | 169 | None | 5 |
Genomic Location (Zv9):
Chromosome 19 (position 18434339)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 19279574 |
| GRCz11 | 19 | 18852527 |
KASP Assay ID:
554-1500.1 (used for ordering genotyping assays)
KASP Sequence:
ATAACATTTCTGGTTTGTGATGTTTTTGTTTTACTTGAACAGCTTGGAAA[C/T]AAAACTTTCTGCGTATTAAGAAGCTAGTACTGATTGGYGGCCCTGATGAT
Long Flanking Sequence:
TGCTCTGGTCATTTCAGTGGTGCATATTGAACTGTAAATTAGAGCTGGGCGATTTAGCCTAAAATCTAAATCTCAAATAATTTAACATTTTAATAGTTTCCAGGTCACTATGTGTTGCTGGTGGAAGAAAACATTTCTTCACTCGCTCCTCCAAAATACCACAAAGTGGTTCAATAATATTTAGATCTGGTGACTGTGCAGGTCATAAGAGATATTTAACCTCACTTTCATGTTTAGCAAACCACTCTGTCAGAAGATACATGATGTTTTTATGTTTTTTTCTTTAGACCCTCATCACAGAGACATGTACATCAACAGCAGTGACTATCTGGCCTTACTAAACAATGAAAGACCAAATCCCAACTCTACTGGTAAAGTTTTTAAAACTTCTTGAAATATCTGTGGTTTTGGGATCCAGATGTTTCTTAATTTTTCAGGGATTCATTTTTAATAACATTTCTGGTTTGTGATGTTTTTGTTTTACTTGAACAGCTTGGAAA[C/T]AAAACTTTCTGCGTATTAAGAAGCTAGTACTGATTGGCGGCCCTGATGATGGGGTAATCACACCATGGCAGTCAAGGTCGGGTAAAATCATCTGTTAGCTTATTTATCTTTAAATCATATTCTCAAATGCTTGAAGCATGATGGTCAATTTCTTTTTTTTCTTGCAAAAGATTGTTCTAATGTTTAATATTCTTGATTTTCAGTCAGTTTGGTTTCTATGATGATAATGAGACTGTCGTTGAGATGAAAAACCAGAAAGTAAGCATAATTCCAATTAGCATTTTTTATAATTCCAGAGTGATGCCAACACTTGTGAAAAATACACAATGCAGTTCTTCTAACTTTGCTCTGTTTCACTATGGGAATCGCATTAAGCATGACCATCTACAGATGTTTCAATGACAGCTTGTCTGTTTTTGATAGACAGGTCGACCTTAAACTATTCTCCACCTTGCCTATATTACTCAGGTCGCTCCTTTACAGTATCATTCATGCTTTCT
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |