Incidental Mutation 'IGL01418:Nr2c1'
ID80292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2c1
Ensembl Gene ENSMUSG00000005897
Gene Namenuclear receptor subfamily 2, group C, member 1
Synonyms4831444H07Rik, Tr2-11, Eenr, TR2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01418
Quality Score
Status
Chromosome10
Chromosomal Location94148023-94197211 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 94190690 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 476 (M476L)
Ref Sequence ENSEMBL: ENSMUSP00000100927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290]
Predicted Effect probably damaging
Transcript: ENSMUST00000092213
AA Change: M476L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: M476L

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099343
AA Change: M476L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: M476L

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105290
AA Change: M476L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: M476L

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Fbxo34 T A 14: 47,530,784 C585S possibly damaging Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Nr2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02739:Nr2c1 APN 10 94156972 missense probably damaging 0.99
chillax UTSW 10 94163786 missense probably benign 0.38
R0077:Nr2c1 UTSW 10 94188255 missense probably benign 0.01
R0349:Nr2c1 UTSW 10 94195182 missense probably damaging 1.00
R0401:Nr2c1 UTSW 10 94171158 missense probably benign 0.02
R0418:Nr2c1 UTSW 10 94181512 missense probably benign 0.00
R0662:Nr2c1 UTSW 10 94190738 missense probably damaging 1.00
R1665:Nr2c1 UTSW 10 94188183 missense probably damaging 1.00
R1802:Nr2c1 UTSW 10 94163786 missense possibly damaging 0.95
R4812:Nr2c1 UTSW 10 94188252 missense probably benign 0.00
R5549:Nr2c1 UTSW 10 94167696 missense probably benign
R5928:Nr2c1 UTSW 10 94188193 missense probably damaging 1.00
R6219:Nr2c1 UTSW 10 94163786 missense probably benign 0.38
R6430:Nr2c1 UTSW 10 94195341 missense possibly damaging 0.77
R6431:Nr2c1 UTSW 10 94188216 missense probably damaging 1.00
R6745:Nr2c1 UTSW 10 94190664 missense probably damaging 1.00
R6844:Nr2c1 UTSW 10 94171167 nonsense probably null
R7707:Nr2c1 UTSW 10 94188165 missense probably benign 0.00
R7848:Nr2c1 UTSW 10 94190646 missense probably benign
R7931:Nr2c1 UTSW 10 94190646 missense probably benign
Posted On2013-11-05