ZMP
nr5a2
Ensembl ID:
ZFIN ID:
Description:
nuclear receptor subfamily 5 group A member 2 [Source:RefSeq peptide;Acc:NP_571538]
Human Orthologue:
NR5A2
Human Description:
nuclear receptor subfamily 5, group A, member 2 [Source:HGNC Symbol;Acc:7984]
Mouse Orthologue:
Nr5a2
Mouse Description:
nuclear receptor subfamily 5, group A, member 2 Gene [Source:MGI Symbol;Acc:MGI:1346834]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37513 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44987 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa37512 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa43841 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37513
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 |
|---|---|---|---|---|---|
| ENSDART00000062417 | Nonsense | 58 | 516 | 2 | 11 |
| ENSDART00000127424 | Nonsense | 58 | 517 | 2 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 23084519)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 22691970 |
| GRCz11 | 22 | 22716948 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGATGAGATGTGTCCAGTGTGCGGAGACAAGGTGTCCGGATATCACTA[T/A]GGGTTGCTGACCTGTGAGAGCTGTAAGGTGTGTAACATCAGCTGTTTTTA
Long Flanking Sequence:
ACACCCGACTCGAAGCTTCGTCTAGTTCCCAGAGACCCAAAACTGCATATTCTTACAGAAAATTCACTCTTAAGGCTAGACTTGGTGAACAACTGGTGGTTCGTATTTTATTTATTTCTGCAAAAACTGCAGGCTACACGTAGAAGTTAGCCGAAGAGATGGTTACAATTGAAATATTTGCTTTAAAATGATGTTTTTTCAATCATTGAAGCTCTGAATTTGTTTAGTCTTTTCGTTGTGGAGATTCAAACAGTTCTTGTTTTTTTAGCTGCTTCTTAATCTTTCAAAACGAACCTCATAACACATGACAGCCAAACCATTTTTTTTTTGTCAAAAAATAAATTAATTAATTGAATAGGTTCTGTAATGTAAATTGTTACTCACTGTACTCATACTCTTATGTTTTCAGCCCCACAGTTTAAAATGATGGACTACTCCTACGACGAAGACTTGGATGAGATGTGTCCAGTGTGCGGAGACAAGGTGTCCGGATATCACTA[T/A]GGGTTGCTGACCTGTGAGAGCTGTAAGGTGTGTAACATCAGCTGTTTTTATCTTCTCAACTGGTCACCTTAAAAAAGCACTGTTCTGATAGGGAGAAAAACAATTGTAGACAGAACAAAGCTTACGTTTTAGAATATTTGTTGGTGTTTAAAGAGAGAAGAGAACTATTTTAAATACCTTGTGTTGACCTTGAAGGTTGTGCATCCATTCAAATGGTATTTTGAAGCAAATCCAAGTAAGATTTAGCACAACCGCACCATCACATTCATGAAAATTTTGCTTTTAATGATTTTTAGTATTGTAAATTTTTTGGGTCACAATCTGGACTTGATTCCAAATTAGTTGAAGACTCATCTAATGTGTTTTTATTCAGTTTTTCCTACCAAATTATTACAATGTTTTTATTTTATTAAAATCAAATTCCTATGGACTTTTTTGTTATGTATTTAGTGTATAATGTGATTTTATGGAAAAGACTGTGTGTTTAAAGGTAGAAAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44987
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062417 | Nonsense | 71 | 516 | 3 | 11 |
| ENSDART00000127424 | Nonsense | 71 | 517 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 23082776)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 22690241 |
| GRCz11 | 22 | 22715219 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGTCAAAAGTTTGACATCTTCATTCACCTCACTCTGCAGGGCTTCTTC[A/T]AGCGCACGGTGCAGAACAACAAGCGCTACACATGTATAGAGAACCAGAGC
Long Flanking Sequence:
GCCAAATTAGACTTAATTAAAGTTTCACAATACTTTCAATGGCTTGTGCTCATAGTTCCTCCAATGCTAATAGCTGAAATATCACTAGGTCACCATACTAAATGGGACTAAAGAGAATCTTTTTATTAGTGCCGGTACATTTAGTCCACTCTCTGTCTCCAATCTGTTGGTTTCCATCCTCAGCATGTATTTTTGTTTGTTCATGTCAAGTGTGCGTGTGGGTGCACATGTCAGTTTTTGTGTGGGTGTGTGTGTTTGTGTTTATCCAAGTGAGCGTCGACTGCTGAGGGAGCGTTTCTATGCCCGTGGCTCTACTTTTATATGTGTCTACTTGTGTGGCAGTGTGTGTAACACCTCTTTTTTTTCTGTGTGAATGGATACGAGCGTTTTTTTTTTTTCCGTATGTGTGTGTGGGTTGTCTGTGGCTGAATAGCACATTAACAAACACCGGAGGTCAAAAGTTTGACATCTTCATTCACCTCACTCTGCAGGGCTTCTTC[A/T]AGCGCACGGTGCAGAACAACAAGCGCTACACATGTATAGAGAACCAGAGCTGTCAAATAGACAAGACCCAGCGGAAACGTTGCCCCTACTGTCGCTTCCAGAAGTGCCTCACAGTCGGCATGAAACTGGAGGGTAAGAAGTCTTTATAGTTCATCCATGCATTTCTTCCGCTAACTCAACACAGATTTCTGGTCTTTAAACAGCTGTTTTGTCATCATTTGCTGGTGTTACAAAGCCAAAAGACTCTGTTTTCTTCTGTAGAACAAAAAAGGAGACGTTTTGAGCAATGTTCGTGCTGCTCTTTTCCATACAATCGAACTGAATGGTGACCAAACTATGTCAAAAAATGTTTGAAGTTTGAATATACCTAATAAAAAAATATTAAAATTGGATTAAAATAATAATAAGTTCCTTAAAAAGGTATGCAAAGATAAATTTGTAAAAAATATGTATATATATAAAAATAATAAATACTTCAAATATATTATTATATAAAAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37512
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000062417 | Nonsense | 89 | 516 | 3 | 11 |
| ENSDART00000127424 | Nonsense | 89 | 517 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 23082722)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 22690187 |
| GRCz11 | 22 | 22715165 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCACGGTGCAGAACAACAAGCGCTACACATGTATAGAGAACCAGAGCTGT[C/T]AAATAGACAAGACCCAGCGGAAACGTTGCCCCTACTGTCGCTTCCAGAAG
Long Flanking Sequence:
GTTCCTCCAATGCTAATAGCTGAAATATCACTAGGTCACCATACTAAATGGGACTAAAGAGAATCTTTTTATTAGTGCCGGTACATTTAGTCCACTCTCTGTCTCCAATCTGTTGGTTTCCATCCTCAGCATGTATTTTTGTTTGTTCATGTCAAGTGTGCGTGTGGGTGCACATGTCAGTTTTTGTGTGGGTGTGTGTGTTTGTGTTTATCCAAGTGAGCGTCGACTGCTGAGGGAGCGTTTCTATGCCCGTGGCTCTACTTTTATATGTGTCTACTTGTGTGGCAGTGTGTGTAACACCTCTTTTTTTTCTGTGTGAATGGATACGAGCGTTTTTTTTTTTTCCGTATGTGTGTGTGGGTTGTCTGTGGCTGAATAGCACATTAACAAACACCGGAGGTCAAAAGTTTGACATCTTCATTCACCTCACTCTGCAGGGCTTCTTCAAGCGCACGGTGCAGAACAACAAGCGCTACACATGTATAGAGAACCAGAGCTGT[C/T]AAATAGACAAGACCCAGCGGAAACGTTGCCCCTACTGTCGCTTCCAGAAGTGCCTCACAGTCGGCATGAAACTGGAGGGTAAGAAGTCTTTATAGTTCATCCATGCATTTCTTCCGCTAACTCAACACAGATTTCTGGTCTTTAAACAGCTGTTTTGTCATCATTTGCTGGTGTTACAAAGCCAAAAGACTCTGTTTTCTTCTGTAGAACAAAAAAGGAGACGTTTTGAGCAATGTTCGTGCTGCTCTTTTCCATACAATCGAACTGAATGGTGACCAAACTATGTCAAAAAATGTTTGAAGTTTGAATATACCTAATAAAAAAATATTAAAATTGGATTAAAATAATAATAAGTTCCTTAAAAAGGTATGCAAAGATAAATTTGTAAAAAATATGTATATATATAAAAATAATAAATACTTCAAATATATTATTATATAAAAATAATATATTAAAATGTATTGTTAAATGTACTTAATTTGTATATAAGCATATATATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43841
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 |
|---|---|---|---|---|---|
| ENSDART00000062417 | Essential Splice Site | 385 | 516 | 8 | 11 |
| ENSDART00000127424 | Essential Splice Site | 386 | 517 | 5 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 23038687)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 22645299 |
| GRCz11 | 22 | 22670277 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTGATGCACGCCAAAGAAGGCTCCATCCTCCTGGTCACGGGGCAACAGG[T/C]GAGTGTCTCCTCCATCTCCTCCCTACAGAGCTCATCAGGCCTTTTTGCGA
Long Flanking Sequence:
TCTGAGAGTGTAGAAACGTAAGTTGTTTGCTCTTTATTGGTGTCGGTATCCAAGTTTATCCACAGCACCACACACATGCATTGGTCGAAACGTCCTTATATTGTTACTATTCATTTTACTATACATTTTGCTGTAAATATAAATGACACTAAAAGGGAATTGAACTTGTATTTTCAATAGGAAACTGATTAGTGACGGTTATAATTATTTAAACTGTAAAATATTATTGAAGGTAGACAGCTTGAGAGCCACTTATTTTTGGTCAAAGAGCCACATGTGGCCCATCTAATCAAAAAGTTGCAGTTTACTCAGATTACTACTTTTGATTGAACATAACGATTGCTTACATAATCTGATGCATCTGTCACTGTCCCCTCAGGTTGACGACCAAATGAAGCTTCTCCAGAACTGCTGGAGCGAACTCCTCATCCTGGACCACGTTTTTCGGCAGGTGATGCACGCCAAAGAAGGCTCCATCCTCCTGGTCACGGGGCAACAGG[T/C]GAGTGTCTCCTCCATCTCCTCCCTACAGAGCTCATCAGGCCTTTTTGCGAGAGTGGATCAACATCCTTTAAAGTGCTATCGACTGGCCTGGCCACTCCATTAAAAATAGATTACGCTTAGGTATAAACTAATGTGGCCAGAATAATCAATTGTACACTTCTTATCAAGTGCGTGGCGAAGGAATAAATAAAATGGTTGGTTAAGCATGCACGAGTCATCGGCGGCGAAGACGGGATGAGAGACACAGAGAAAGACAGACAGGGAGGGAAAGCAGAAGATATGTATGATTTACCTCAGTCGTCTCCGAGGAGCATCGCTGGACGGACGCCTCAGGCTCAGCTGAAGTTTTTCTGCACACGAGGACCTTTAATTCTGTCTTCGGCTCCAGCGCATGCACACACACACTTCCAGAAGATGTTTAAACTGCTTATAAATAAATATGCTTCTGTCTGCCTGTCAGTAAGGCATGGGTTTAATTTTTAATTCTGTGTTTTCCCTCC
Associated Phenotype:
Not determined