ZMP
si:dkey-181c1.7
Ensembl ID:
ZFIN ID:
Human Orthologue:
PEAR1
Human Description:
platelet endothelial aggregation receptor 1 [Source:HGNC Symbol;Acc:33631]
Mouse Orthologue:
Pear1
Mouse Description:
platelet endothelial aggregation receptor 1 Gene [Source:MGI Symbol;Acc:MGI:1920432]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa2863 | Nonsense | F2 line generated | Not yet available |
| sa36172 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa42751 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa2863
Status:
F2 line generated
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000135981 | Nonsense | 8 | 235 | 1 | 5 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 32801506)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 30540021 |
| GRCz11 | 16 | 30497948 |
KASP Assay ID:
554-3072.1 (used for ordering genotyping assays)
KASP Sequence:
ATCAATTCTGTCCCTGTATATGTTGCTCCAGCTGTCACCCTCTGAAGGGC[G/T]AGTGCACCTGTCAGCCAGGCTGGGCTGGTCTGTACTGTAATGAAACCTGT
Long Flanking Sequence:
CATTCAAATCTCGATATTAGCAATCCATTAACTATGACTTTTGCTTCAATGAGCTCCTAAATTGTTCTTAGGTATTGGGTATGATGTAGAATAAGATCATGCAGAATATGTAGTTTATAAGTACTAATAAGCAGCCAATTTTTCAATAACATGCATGCTAATAAGCAACTAGTTAATAGTGAGAAATGGTCTCTAAAGTGTCATCAAATGTATTCATTTTTTATTGATTGAGATGATCCTGGAGGGGAGTTAATCATGCAAAAATTAAGTAAACAAATTACAAGCATAAATAAATACAATAAAACAAAGATAAAGGTGAAATAAGCAGTGTGTGTTTTGTGGTTTTGTAAATATAAAACCTACACTGCAAAGTCTTTATTGTATGAATAATTCAATACAATTATTCTTAATTAAACAAATATGTGACTACCAGTAGTTGGTGACACATGAATCAATTCTGTCCCTGTATATGTTGCTCCAGCTGTCACCCTCTGAAGGGC[G/T]AGTGCACCTGTCAGCCAGGCTGGGCTGGTCTGTACTGTAATGAAACCTGTGCTCAGGGTTATTATGGTAATGGCTGCCTGGAGCCCTGCCTGTGTGTGAATGGAGGAGTGTGTGACTCAGTGACTGGCCAGTGCCACTGTCCACCCGGATTTACGGTAAGGCTCAAACAAAACAGCTTCTGTAAGAACATACAATAATTGTAACTAATGACACCTCAGATGTTTAATGTATATTTATACATGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGGCTGCACTGTGAGAAGCTCTGTGAGGATGGTTTCTACGGAAAGGGCTGCTTGTCTGCTTGTAAATGTGTTAACTCTATAGTCTGTTCTCCTGTGGATGGAGCGTGTATCTGTAAGGAAGGTGAGTTTTGGTACACTTATTAGCTAAAATAATGTACAAACTACTTGTTCAGTGAATTAAACATTCAGTCAGTCAAGTTATGTTATCAGAGGCATTCACACGGCAGGAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36172
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 |
|---|---|---|---|---|---|
| ENSDART00000135981 | Essential Splice Site | 99 | 235 | 2 | 5 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 32801897)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 30540412 |
| GRCz11 | 16 | 30498339 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACTCTATAGTCTGTTCTCCTGTGGATGGAGCGTGTATCTGTAAGGAAG[G/A]TGAGTTTTGGTACACTTATTAGCTAAAATAATGTACAAACTACTTGTTCA
Long Flanking Sequence:
TCAATACAATTATTCTTAATTAAACAAATATGTGACTACCAGTAGTTGGTGACACATGAATCAATTCTGTCCCTGTATATGTTGCTCCAGCTGTCACCCTCTGAAGGGCGAGTGCACCTGTCAGCCAGGCTGGGCTGGTCTGTACTGTAATGAAACCTGTGCTCAGGGTTATTATGGTAATGGCTGCCTGGAGCCCTGCCTGTGTGTGAATGGAGGAGTGTGTGACTCAGTGACTGGCCAGTGCCACTGTCCACCCGGATTTACGGTAAGGCTCAAACAAAACAGCTTCTGTAAGAACATACAATAATTGTAACTAATGACACCTCAGATGTTTAATGTATATTTATACATGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGGCTGCACTGTGAGAAGCTCTGTGAGGATGGTTTCTACGGAAAGGGCTGCTTGTCTGCTTGTAAATGTGTTAACTCTATAGTCTGTTCTCCTGTGGATGGAGCGTGTATCTGTAAGGAAG[G/A]TGAGTTTTGGTACACTTATTAGCTAAAATAATGTACAAACTACTTGTTCAGTGAATTAAACATTCAGTCAGTCAAGTTATGTTATCAGAGGCATTCACACGGCAGGAAATGAGGCCCAAATACTACATTTAAAAACTGTAATTAAAAAAATCTAGACAAAACGATTTATTTGACAAGACTTGATCAGTACTTCCACATATCAGACTATATTTTCAAGGGCGCAGGCATCAATTGGCTATTGTAGCCTTATGGCATGATTCTCTGTTTTTCCTTTTGTTTGAATCAACTGGAAATACAACAACATCTTCAGATTGAGACGCAGGGTTGTGATAATATACACGCCTTCTAAAGCAAGGCATGCACATAAAGAATTATTTTGGGAATTTCTTGAATCGATATTGTTTTTTTAAACTGAAGTTTAATTCAAATTGAGGAGTCGTTTTTCCCTAATTTCACGACACATCGCCTAATAAATAATCATATAAATGATGATTTCAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42751
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 |
|---|---|---|---|---|---|
| ENSDART00000135981 | Nonsense | 174 | 235 | 4 | 5 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 32805145)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 30543660 |
| GRCz11 | 16 | 30501587 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGGACCAGGCTGTCAAAACCAATGTGACTGTGTGCATGATGAGGGATG[T/A]GAGAGTGTTACAGGACAGTGTCTGTGTTTACCAGGCTGGACAGGTAAGAC
Long Flanking Sequence:
CTGGCTGTAACCGAACTTGCAAGTGTACAAATGGAGCGTCTTGCGACCCTGCTGATGGGTCGTGCAAGTGCACCGCAGGGTGGAGAGGAGCATCCTGTGACGAGCCCTGTCTAGTAAATAACTGCCTTATCCAGCGCACATGTGTTTAATTTACAACAACCAGCTCAGAATTTTCACGAGATTCAGCTCAAGTCACACTTTCCCTACCATGACCTGAATTCGACATCCGAGTTGTTGTTGTTTCAGCATATCTGTCTTCTAAATGAACTGCAATCATTTTAACACCATCAGCAGAAGTTATTAACCCGATGGCAAACGCATTACACTCTTCTGCTTCGAGAATATGCTGCATGGCCATCATTCAGAATAAAGTAGTAATTATATTGGAGCTCAGAGTTACTTGATCATCCTGAATCAGTATTTCCATTCTGCTTTATACAGATCGGGACTTTTGGACCAGGCTGTCAAAACCAATGTGACTGTGTGCATGATGAGGGATG[T/A]GAGAGTGTTACAGGACAGTGTCTGTGTTTACCAGGCTGGACAGGTAAGACTTCATTTATATTTATAAGGCCTACAGCAGTGAGCAATTAAAGTGGATCATCACCTTTCATCAACATTATCCTAATACTATTGAACGACACCCATTCTTGTCCTTTATTTACTTCTAATGTTGACTATTGTATAGTATATACTGTAAGTCTTAAAAGACCAGTCATGCTATGCTTTTTTGTTAATTTGACTTCCATTCATATGTCTGTGAATGTGAGAGACTGGAAATATGAGCTCCTGCAAAGATGTTTTACATTTTGTTGTATTCCAAAGTCCAAGTTTGGTGAACTCTGGGATGGAAATTCTTATAACACAAAGGTGTTTTGTACAGTTTTTTTTGTAATGTACAATTTCAAGACTGATACATGACAGCTTTACTTCATAGTTGAATTAAAAACACTATGAGGTCTCATGACTTTTTGCATTCAAAGAGAAAACCAATATAAATCATG
Associated Phenotype:
Not determined