Busch Lab

ZMP

nr2c2

Ensembl ID:
ENSDARG00000042477
ZFIN ID:
ZDB-GENE-080403-8
Description:
nuclear receptor subfamily 2 group C member 2 [Source:RefSeq peptide;Acc:NP_001116766]
Human Orthologue:
NR2C2
Human Description:
nuclear receptor subfamily 2, group C, member 2 [Source:HGNC Symbol;Acc:7972]
Mouse Orthologue:
Nr2c2
Mouse Description:
nuclear receptor subfamily 2, group C, member 2 Gene [Source:MGI Symbol;Acc:MGI:1352466]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa12029 Essential Splice Site Available for shipment Available now
sa14160 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12029
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
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011597 Essential Splice Site 215 623 5 14
ENSDART00000125232 Essential Splice Site 215 623 6 15

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 55378459)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53249344
GRCz11 8 53127923
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAGTTCTGCCGGCTCCGCAAGTGCCTGGAGATGGGCATGAAGATGGAGT[G/A]TGAGTGACGCAGAAACAGCAGGGCTGGGGGGCGATGAATSCAATCGAGAA
Long Flanking Sequence:
ACAAGTTGTATTTTTACCATTTTTTTTACCCTTATCTGTTCCGGGACTTGACAATTCACAAATTAAGCACTGGCAGTAAGTGAGACCAGAAGTGTCCAGTCAATAAGGCTGAACCACTCATATGTGAAAGAATCAGGTCTCTGTGGGAAAATAGTAGTTTTTGAACTGCATTAAAATTGCATTACATCAAACAGACGAAATAATGTTCTTGTTTTCTTTAGCAATGTCATATGACCCCTTTTAAATAGAAGTATTAAACTGAACTTCATTCATTCACTGGTCTCATCTCTCTGTGTGTGTGTGTGTGTGTGTGTTTGTAGGGAGGCATTATGGAGCTGTGAGCTGTGAGGGCTGTAAGGGTTTCTTCAAGCGGAGCGTGCGCAAGAGTCTGACCTACAGCTGCAGGAGTAACCAGGACTGTGTGATCAACAAACACCACCGCAACCGCTGCCAGTTCTGCCGGCTCCGCAAGTGCCTGGAGATGGGCATGAAGATGGAGT[G/A]TGAGTGACGCAGAAACAGCAGGGCTGGGGGGCGATGAATGCAATCGAGAAATTATTCTGCATCCGTTTTGAAGTTTTGCACTGCAATATATATACAGAATTATTCACCCTCCTGTGTTTTTTATTGAACAGATTCAGGAATTTTTCACAGTATTTCCTATAATATTTGTTCTTCTGGAGAAAGTCTTAGTTGTTTTATTTCGGCTAGAATAAAAGTAGTTTTTTATTTGTTTTAAAGCCATTTTAAGGTTAATATTATTAGCCCCATTAAGCAATATTAGTGTTGGATTGTCTCCAGAACAAACCACTGTTATACAATGACTTGCCTAATGAACCTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGAATAGTGTTGCACAAAAATGACCTATATTTAATATAAAAAGTTATTTTTGGACTGGATATATTGGATTTATGTATAAATAGATATAATATTAGATATAACACTGGCTCTGATGCATTTTGTGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14160
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
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011597 Nonsense 545 623 13 14
ENSDART00000125232 Nonsense 545 623 14 15
Genomic Location (Zv9):
Chromosome 8 (position 55368164)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53259639
GRCz11 8 53138218
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCWCCAGATCATCCAGGTTTGAGTAGCTGCAGCCAGATTGAAAAGTTT[C/T]AGGAGAAAGCGCAGATGGAGCTCCAGGACTATGTGCAGAAGACCTATCCR
Long Flanking Sequence:
TTACGCAGCGGATGCCCTTCCAGATGGGAAACATCCACACACACACTCATACACTACGGACAATTTAGCCTACCCAATTCCCCTGTACCGCATGTGTTTGGACTGTGGGAGAAACCGGAGCATCCGGAGGAAACCCACGCGAACGCAGGGAGAACATGCAAACTCCACACAGAAATGCCAACTGAGCCGAGGTTCGAACAGGCGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGCACCACTGCCCTGCCCTAGTGCTCATTCAGTTTTTGGTAGTTTGATGCAGAGATGATCTAATACACACATAAATACATATAAATATTTTAGAATTTTAAAAATAAATCTTAATATTAAAAACTATCAAGGATTTAAGATGCTGAGGATTGTTAAACGCATCATAACGCATGGTCTTGTGAAAAGGGTCCTGAACTCACAGCTGCTCCGTTTCTTCTCCAGATCATCCAGGTTTGAGTAGCTGCAGCCAGATTGAAAAGTTT[C/T]AGGAGAAAGCGCAGATGGAGCTCCAGGACTATGTGCAGAAGACCTATCCGGATGAAACCTACAGGTCAGCTCCATGTTGATATCAGACTATGGAGAAATGCATCTTATAGCTCTGATATAATCACTACTATTGAGATAAGAACAGTGGCGTAGCGCAAAATGCGGAGGCCCCCCTGCAGGGATCGCTGACGGGGCCCCCTGATGATGGGGGTGGGGGGGGGATACGTCATACGTCAATTTGCATATCACTGACGTCATCACGTTCTACCGTTTCTGTTTGTTTAACAGCATATGGTTAATAAAGGGGTATTTATAATTGCACTACACTTTATTTAAGCATGTTTATTTAACTTAATGTATTGCTGTTTGAATACAGTATGTCATTATAGATGTGTAGTGAATGTGCAGTAATCTCTCATATGTAATAAACTCAGACAAGTTCAGAAACTGTCACTAAAATATCTGTGATTGTGAACAAGAAAAGAATAAACGGTCCAATT
Associated Phenotype:
Not determined