Nr2c1 - SNV Details



 Gene Information 
Gene Name Nr2c1
Old Gene Names for Nr2c1 Tr2-11 , 4831444h07rik , Eenr
Gene Description nuclear receptor subfamily 2, group C, member 1 [Source:MGI Symbol;Acc:MGI:1352465]
MGI phenotype Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in testis development or in spermatogenesis; no gross defects were detected in the central nervous system and normal motor neuron cell numbers were noted.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; positive regulation of retinoic acid receptor signaling pathway; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; steroid hormone receptor activity; protein homodimerization activity; protein binding; PML body; nucleus; histone deacetylase binding; regulation of transcription
DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling pathway
Homolog in other species NR2C1
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005897
Chromosome 10
Coordinate 94,190,690     (Assembly: GRCm38)    
Ref Base A
Codon Change Atg/Ttg
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.33
T:V0.67
Amino Acid Position 476
Amino Acid Change M->L (Methionine -> Leucine)
Sample ID IGL01418
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0.37
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000100927:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Nuclear hormone receptor, ligand-binding, core Nucl_hrmn_rcpt_lig-bd_core IPR000536 ENSMUSP00000100927 Smart 382
548 Description available Search pathways
Nuclear hormone receptor, ligand-binding, core Nucl_hrmn_rcpt_lig-bd_core IPR000536 ENSMUSP00000100927 Pfam 410
570 Description available Search pathways
Nuclear hormone receptor, ligand-binding Nucl_hormone_rcpt_ligand-bd IPR008946 ENSMUSP00000100927 Superfamily 167
580 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved