ZMP
rhpn2
Ensembl ID:
ZFIN ID:
Description:
Rhophilin-2 [Source:UniProtKB/Swiss-Prot;Acc:Q6TNR1]
Human Orthologues:
AC126603.1, RHPN2
Human Descriptions:
Putative rhophilin-2-like protein [Source:UniProtKB/Swiss-Prot;Acc:A8MT19]
rhophilin, Rho GTPase binding protein 2 [Source:HGNC Symbol;Acc:19974]
rhophilin, Rho GTPase binding protein 2 [Source:HGNC Symbol;Acc:19974]
Mouse Orthologue:
Rhpn2
Mouse Description:
rhophilin, Rho GTPase binding protein 2 Gene [Source:MGI Symbol;Acc:MGI:1289234]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21021 | Nonsense | Available for shipment | Available now |
| sa1319 | Essential Splice Site | Available for shipment | Available now |
| sa10688 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21021
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000010046 | Nonsense | 137 | 683 | 5 | 15 |
The following transcripts of ENSDARG00000014577 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 7 (position 39764926)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38101566 |
| GRCz11 | 7 | 38372824 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGGGTACAAAAATGATTTATTTGAACAGGACTTCATCCTGGAACACTA[C/A]AGTGAAGATGGCTCAAACTTCCAGAATCAGATCGATGACCTCATGGACCT
Long Flanking Sequence:
GAGTCATCCAGCATCCCGCTCATTCCCCTGGGACTGAAGGAGACAAAAGATGTGGATTTCTCTGTTCCTCTCAAGGTCGGTTTCTTTCACAGCACCTCCTCTGTTTACCTCAGTTATCAGGCCTGCAGTCTGGTTGCTTTCAAAGCTTTTCTGAGTGTAAATGGAAAGTAGGTCACAGAATAATAAACAGGGACTCAATAAAACTTTAATAAGCCTTGATGAATATCTCTTATTGTCTCGTAAATATATGGGCGTTGAGATGAATGTTGAGAGATGGAGATCAATCGGATGGATTTTTGTTTTCTAGCCAAACTGTAATAACATACTCTTTTACAGGTGAAGTTATGACAGTATGCCATTGCAAGTCTGTTTTTCTAGAGACAAGTTTAACAAGGCGAACAGGCCTGCAAATACGGGATCATGTGACGTCTTGTGTATGGCATATTAATTAATGGGTACAAAAATGATTTATTTGAACAGGACTTCATCCTGGAACACTA[C/A]AGTGAAGATGGCTCAAACTTCCAGAATCAGATCGATGACCTCATGGACCTAAGACAGGTATAATCATCCCTCTGGACTTTAAGCTTTAATTTCACGGTGGTGCCTTCAGTGTCTGATGTTGAATGACATGTTACACAGTACATAGTGTACGGTGCGTCTTTTGGGACACTAGTAGACTTTACACCATCTACTGGTGGTTTTAACGTCATATTTATTATTTATTTAATGTGTTATTTATTTTTTTTGTAATGTGCCATGTTGGCTGATTTGTTGGCAATATTGGTTGGCATGAATATTCATACTAGATAAAAAAATTGTTCATTTAAAAAATGTAAAGTACATTTAAAGGGATAGTGAAAATGAAAATTTACTCACACTCAAGTGGTTCTAATCCTTTGAGTTTCTTTCTTCTGTTGAACACAAAAGAAGTTATTTTAAGGCAAGCTAAAATACTTGTAACCATTGACTTCCATATTAAGAAAGATTCTATTGAAGTCAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1319
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000010046 | Essential Splice Site | 473 | 683 | 11 | 15 |
The following transcripts of ENSDARG00000014577 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 7 (position 39774234)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38110874 |
| GRCz11 | 7 | 38382132 |
KASP Assay ID:
554-1233.1 (used for ordering genotyping assays)
KASP Sequence:
CGACAAGGAAGACGAGTTCACAGACTACATGCTTGCACCAGATATTATCT[G/A]TAAGTCAGAGATGGACACTATTGGAACCRCCRTTTTATTAGAACAGAATC
Long Flanking Sequence:
CAGTTAGACGGGTGTACCAAACAAAGTGGCTTGGGGAGTGTATATATATATATACTAAATAAATACACACAATACGCGCACTTGAATCATGTCAAAACAACTTGTATTTTGGATTTGATTACTTGTGATCAATTTTTGCCCAGCACTAGTTATTTTCCCTTTTTTAAAGTAGGTTTAAGATTGTAATGTACTACAGTACTTAAAGAAAATAGCTTTACTCAACACAGCATCTTGACCTGTTAGACAGATGTAAATATGGGATAATCCACTGTAGCACAATAATAATTTCTCTCTGTGACACTCAGGTAAAGCTCATCTACAGCGCTCCATCATGGGACACGAAGAGGCCATCCGCACACATTGTCGCTGTCGACACCTGCAAAAACTGGACATCCTGAGTGACATCCTGCGTGCTAGCCTCAATCGCTCTCTCACTAAGTTCGAACAAAACGACAAGGAAGACGAGTTCACAGACTACATGCTTGCACCAGATATTATCT[G/A]TAAGTCAGAGATGGACACTATTGGAACCACCGTTTTATTAGAACAGAATCAGAGTTAAAATGTTTATTGGTCAGTCAAGTAATGTACACTAGACTTGTGTCGTATTTAAAAATCATAATTCAACACAGCCAAAATGTAAAATATATATTTGCTTAATTTTACTGCATTACTGTAAGTTTGAAATGTGCAGTTCTTTTAATTCAGCTGTATGTTCATGCATTGAAAAAACCACCTTTTGTTGGTCACATTTATACAATAATGTTCCAGTTTTTATGATGACTTTGGAACAGTTGCATTCTCATGGATATAAATGTGTATAGTTGCAAGTCATGGAATGGAAAGTATAGCATGCATGGCTCTTTTTATTAACACTAATGTATTATAAACATGTATGCATCTGGGTGTGTCCTAGGACATTTGTCAAACATTTTACTACCTGATGTAAACAAATGTTTAAACTCCTCTTAATCTCCCACATGATTGAATTAATAGAAATTGAT
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa10688
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000010046 | Nonsense | 531 | 683 | 13 | 15 |
The following transcripts of ENSDARG00000014577 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 7 (position 39777607)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38114247 |
| GRCz11 | 7 | 38385505 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CRCGCACCATCAGGCTCATACTGCAGGACAGAGACCTCGGGTTTACRCTC[A/T]AGGGAGATGCACCCGTTCAGATACAGTCRCTCGACCCCCTTTGTCCCGCW
Long Flanking Sequence:
ACCTCCAATCTTAGCTCTGGTACTTCTGTTTAAGTTAAACAAATACCCTGTTGGTTTAATTTTAGTGTTTGTATGAGTTATTCTAACTGAAAGACCCATGTGCCCCTATGGGACTTGGCAGAGGCCTCTCATATGAGAACACCGGTGCCTTAAACAGTTCATCATCACCTCAGATGACAGTGTTTCATAACAATATGAAATAAACGTTCTGCACCATATGACCAGTCTTTCACATATACTGTGTGTAGTCGGCGTACCAGTAAGCCAAATGTTTGGATGACCAGCAGAGTTGGATTTATAGCCAAGGGCGAGCAGGGTGGCAGGCAGGCTTAAGTTAAAAACAGCCTGTGTGTCTTGGACTTTGGTGAGTTGCTATAGTGATTTGCTGTTGTATTTGTGTTTTGCAGGGGCCTTTGTCAGTGTTTTCAGCGAAGCAGAGGTGGACAGCTCCGCGCACCATCAGGCTCATACTGCAGGACAGAGACCTCGGGTTTACGCTC[A/T]AGGGAGATGCACCCGTTCAGATACAGTCACTCGACCCCCTTTGTCCCGCTGCAGTGAGTGTTCACACACTCAGACAAACACACAAAATAATGTTCAGCTTCCTTTTAAGGGCACGTTCAGCCAAAATCTAACTTTGGTCATTATTTATTTACCATGACAAATAATAAAAAAAAAAAATTTCTTCCCCCCATTTTTATCTACCTTTTAAAATTATAAAAGGATCTAAAAAATTTTAACTTTTCTAAAATAATACAGAAAGAGTACTAAAAAAGATTAAGTAAACTGCAAAATTAAATTAAAATGAATTAAAATAAATAAAATATTTAAAAAAATCAAATTAACTAATAGTATTATTTCAGTCTCGCTATTTTGTAGGGATATCCTGATCAGTTTTTTTTGCCCTTGAGTCAAAGTTATTTGATTTTGAGTATCTACTGATACCGAAATCCAATCCGATACTTCTATAATACATACAAATAGAATAAATAAGAGCCAAGAAA
Associated Phenotype:
Not determined