ZMP

NR2C2 (2 of 2)

Ensembl ID:

ENSDARG00000094967

Description:

nuclear receptor subfamily 2, group C, member 2 [Source:HGNC Symbol;Acc:7972]

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 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa34524	Nonsense	Mutation detected in F1 DNA	Not yet available
sa12029	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa34524

Status:

Mutation detected in F1 DNA
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
ENSDART00000135801	Nonsense	105	338	4	9

The following transcripts of ENSDARG00000094967 do not overlap with this mutation:

ENSDART00000146848

The following genes are also affected by this mutation:

ENSDARG00000042477

Genomic Location (Zv9):

Chromosome 8 (position 55380201)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	53247602
GRCz11	8	53126181

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTCCAGCGGGTAAAGTCCTGCTGGCGTCCCCAGAGAGCTCCAGCGCCAAA[C/T]AGCTCATCTTCGCCACTGCCGACAGCCTGGTACCCGGCAGAATACAGGTA

Long Flanking Sequence:

AGTACACACCCACAACCACAAACATATATACACACAGACACACAAACACATGTGCACACTACCACACACACACACACACGCACACACAACCAAACATATTTGCACCCAGACACACAAACATGCACACAAAATATATATATATACATATACAATATACATACACACACACACACACACATACACAAAACCAAACACACATGCCATGAACACAATTACACACTCACACACATACACACACATGCACGCATACAAACACATATATTCAGACACAGAGATTCTCACATTCACACAAAACCAAACACACACTCCTCATCAGCGCTGTCTGGTTCACACATGATCCTCCTCTTCAGATCGTCACAGAGCAGCAGACGGGGCAGAAGATCCAGATAGTGACGGCTCTGGACTCCTCTGTGCCCAAGCAGCAGTTCCTCCTGGCCTCTCCTGATGGCTCTCCAGCGGGTAAAGTCCTGCTGGCGTCCCCAGAGAGCTCCAGCGCCAAA[C/T]AGCTCATCTTCGCCACTGCCGACAGCCTGGTACCCGGCAGAATACAGGTATGAAGAACACACACACACACACACACACACATGTACAATTCTGGGATGTACGTTATCTCTTACTTATTATATCGGTCAGAGTTTCTTGTTCACCTGTGAACTACTAGACCATCATCATCATCATCATCATCATCATCATCATCTTTATATAGCTGTGCTGTATTAATGCTGAATAAGAAATGCTTCTGCCTTCTGCTGTAGTTTGTGACTGATGCCGTGTCCGTGGAGAGGCTTCTGGGTAAAGGCACAGACCTCAGCCGAGTTCAGCCAATTGAATACTGTGTGGTGTGTGGAGATAAAGCCTCAGGTACAAACGCATTCAGTCTTACAAATGTGATTTTCTTTTTATACATGGAAGAAAGCATATTAAATGCAAATGTGTTGAAATATGGGTGAAATAATGCTCCATTGTCATTCAGTGTAATGTATGTTTATTTAAGAGTGAAGCAC

Associated Phenotype:

Not determined

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
Order Allele From EZRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000135801	Essential Splice Site	215	338	6	9

The following transcripts of ENSDARG00000094967 do not overlap with this mutation:

ENSDART00000146848

The following genes are also affected by this mutation:

ENSDARG00000042477

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