ZMP
PPEF2
Ensembl ID:
Description:
protein phosphatase, EF-hand calcium binding domain 2 [Source:HGNC Symbol;Acc:9244]
Human Orthologue:
PPEF2
Human Description:
protein phosphatase, EF-hand calcium binding domain 2 [Source:HGNC Symbol;Acc:9244]
Mouse Orthologue:
Ppef2
Mouse Description:
protein phosphatase, EF hand calcium-binding domain 2 Gene [Source:MGI Symbol;Acc:MGI:1342304]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20559 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa20558 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa20559
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 |
|---|---|---|---|---|---|
| ENSDART00000108926 | Nonsense | 35 | 304 | 1 | 9 |
Genomic Location (Zv9):
Chromosome 5 (position 63802823)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 52274889 |
| GRCz11 | 5 | 52921482 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGAAATGAGACGAAGATACACTTGGAACATCTTCCAGTCCATGGAGTA[T/A]GCAGACCTACAAGACCAGATCAAAGTAAGAAATTGTTTACCTTAAACCCA
Long Flanking Sequence:
AGGCTATATGCGAGTATAGGTGTGTTTGCATGCAGCGTGTTTATGTATGTACATGTGTTAATGTGGATGTTCATGCGATGATCGAGTTTATATGTGTATGCCAGTGTGTGTGGGTGTGTTTGCATGCACTGAGTTTTTATGTATGTGCGTGTATTGTAGTGGGTGTATATGCAAGGATCGAGTTTATGTATATATGCAAGTTATATATATATTGTTTTGAACATCCAGTGATATAGCTGTATATGTATGAGTTGATAAGCAAGGTTTGATTTAAATCCTACATAGTAATCCCTTAAATGATGCTGAATATGGTGCGGTTCCGGAAGTCTTATATGAAAATTGTAAATTTGTAATCAATCACATATACATTGATTTAAATATAGTGTTTTCTTGTAAGCAATAAAAGCTGCAGTGCTGATCCAGCGCTGGCACAAACAGTATGTGGCTCGCATGGAAATGAGACGAAGATACACTTGGAACATCTTCCAGTCCATGGAGTA[T/A]GCAGACCTACAAGACCAGATCAAAGTAAGAAATTGTTTACCTTAAACCCAATTTGAAGGCAGGTATGATTGGCGGAATGGTTGGATAGATGAATGGAAGGATGGATGGATGAATGGATGGATGGATGAAGATAGTGTATGGAAGGAAATATAAATGGATGGATGAAAAAAGAAGGACAGATGGTTAAAAAAGGTCAAAATGTGAATGGATAGAAAATGGAAATATAGATGGATGGAGAGATTAAAAAGTCTGTGGATGGATTGATAGATGGAAGAAAGAATGGGTGAGTGGTTTGAAGAATGAATGGATGGACAACTCAATTTCAAATAAATCTGTGACTGCAATTATAATGATATGACATTTTTTGTTCACTTCTTTGCAGTTATACAATTTTCTTGGTTACCTGGTGGATAACTTTACTCCTTCAAGCAGTGAACGTAAAACAAGCTGTTGCAACACAAACCACCTATACAGTACATATTTGCACTCAAATAAACCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20558
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 |
|---|---|---|---|---|---|
| ENSDART00000108926 | Essential Splice Site | 293 | 304 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 5 (position 63798635)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 52270702 |
| GRCz11 | 5 | 52917295 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCAGACAGCACAAACCTTGCTCTCATAGCTCGAGTTGACCGACATAGA[G/A]TAAGTCAAACAACCAGACTACATCAATAATTGCAGATTGAGATTTTGTGA
Long Flanking Sequence:
ATATATATATATATATATATATATATATATATATATAAAGGCAATAAATTTACAAAAGTTAATTTGTAACTCGTTCTCTTAACCAAATTTAGTCTAGGATGAAATTTGAAAACTTTTAAAAACTAATTTAAAAGTTTTCCAATTTATCCTTTGTTTCTATCATGCAGTTACTTTGTATCTGTATAACTGCAGTCAAATGTATGATGAAGCTCATGTTTCTGTTGCTTTAACGTCATCAGTAATGTGTTATTCTCTTTTGGCCGTACTTCTCTGAGATTCACAATATAAAGCAATACATTTGATGCATTTTTCCTTGAATCTGAGATCTGACATTTCTTATCTACTTGTAGCTGCATGGAAAGCGTATTCTGAAGCTGCTGCAGAAGATCTTCAGCTGGCTGCCTTTAGTGACAGTGATCGATCAGCGGGTGCTTATAGTCCATGGAGGAATCTCAGACAGCACAAACCTTGCTCTCATAGCTCGAGTTGACCGACATAGA[G/A]TAAGTCAAACAACCAGACTACATCAATAATTGCAGATTGAGATTTTGTGATTTATGGATTTATTTTCAGTCTAATATAAATACACATTAAAGGTGCTATTGCAACAGTTTAATTACAGCAGTGTCTATGAAATTTATTTACAATACATTTTGATTCTCTATTTTTTCCTCACGCTCTGAGCTACTCCACTTTCATAAATCTAAAATTTACAGTTTGATTCATATTTGTAAGCTTAAGGTTTTTACCTAAGGGATATATTGACACAAAATGTCCCTGATTATCAATGTTTTAATTTACATAGAATGGCTGTTGACAGTATTTTCTGAATTATTGATTGATAAACAGCGATTCCCAAATATCCCTCAGTGAAATTACCTTTCTAGTTCCATCATTAAATTTGTAAATTTTTAATCTGTCATTCCTCATTTGGAAGAATTCCTCATTTGCATATTTAAAAAGCCTTTCAGAGAATTTGTATTGCAAAATAGTGTTTGCAATTA
Associated Phenotype:
Not determined