Busch Lab

ZMP

ppt2

Ensembl ID:
ENSDARG00000070883
ZFIN ID:
ZDB-GENE-010430-4
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
sa6550 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa36813 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.
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:
sa6550
Status:
Mutation detected in F1 DNA
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:
sa36813
Status:
Mutation detected in F1 DNA
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:
sa1557
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
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