Incidental Mutation 'IGL02739:Nr2c1'
ID 305800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2c1
Ensembl Gene ENSMUSG00000005897
Gene Name nuclear receptor subfamily 2, group C, member 1
Synonyms TR2, 4831444H07Rik, Eenr, Tr2-11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02739
Quality Score
Status
Chromosome 10
Chromosomal Location 93983885-94033073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93992834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 16 (M16K)
Ref Sequence ENSEMBL: ENSMUSP00000100927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290]
AlphaFold Q505F1
Predicted Effect probably damaging
Transcript: ENSMUST00000092213
AA Change: M16K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: M16K

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: M16K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: M16K

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: M16K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: M16K

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
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Ppp1r42 T A 1: 10,039,078 (GRCm39) K347N probably benign Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Nr2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Nr2c1 APN 10 94,026,552 (GRCm39) missense probably damaging 0.97
chillax UTSW 10 93,999,648 (GRCm39) missense probably benign 0.38
R0077:Nr2c1 UTSW 10 94,024,117 (GRCm39) missense probably benign 0.01
R0349:Nr2c1 UTSW 10 94,031,044 (GRCm39) missense probably damaging 1.00
R0401:Nr2c1 UTSW 10 94,007,020 (GRCm39) missense probably benign 0.02
R0418:Nr2c1 UTSW 10 94,017,374 (GRCm39) missense probably benign 0.00
R0662:Nr2c1 UTSW 10 94,026,600 (GRCm39) missense probably damaging 1.00
R1665:Nr2c1 UTSW 10 94,024,045 (GRCm39) missense probably damaging 1.00
R1802:Nr2c1 UTSW 10 93,999,648 (GRCm39) missense possibly damaging 0.95
R4812:Nr2c1 UTSW 10 94,024,114 (GRCm39) missense probably benign 0.00
R5549:Nr2c1 UTSW 10 94,003,558 (GRCm39) missense probably benign
R5928:Nr2c1 UTSW 10 94,024,055 (GRCm39) missense probably damaging 1.00
R6219:Nr2c1 UTSW 10 93,999,648 (GRCm39) missense probably benign 0.38
R6430:Nr2c1 UTSW 10 94,031,203 (GRCm39) missense possibly damaging 0.77
R6431:Nr2c1 UTSW 10 94,024,078 (GRCm39) missense probably damaging 1.00
R6745:Nr2c1 UTSW 10 94,026,526 (GRCm39) missense probably damaging 1.00
R6844:Nr2c1 UTSW 10 94,007,029 (GRCm39) nonsense probably null
R7707:Nr2c1 UTSW 10 94,024,027 (GRCm39) missense probably benign 0.00
R7848:Nr2c1 UTSW 10 94,026,508 (GRCm39) missense probably benign
R8257:Nr2c1 UTSW 10 94,028,769 (GRCm39) missense probably damaging 1.00
R8405:Nr2c1 UTSW 10 94,031,155 (GRCm39) missense probably benign 0.05
R8757:Nr2c1 UTSW 10 94,031,119 (GRCm39) missense probably damaging 1.00
R9165:Nr2c1 UTSW 10 94,017,465 (GRCm39) missense probably benign 0.34
R9546:Nr2c1 UTSW 10 94,026,528 (GRCm39) missense possibly damaging 0.71
R9630:Nr2c1 UTSW 10 93,998,285 (GRCm39) missense probably benign 0.01
R9667:Nr2c1 UTSW 10 94,017,479 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16