Incidental Mutation 'R0077:Nr2c1'
ID 19490
Institutional Source Beutler Lab
Gene Symbol Nr2c1
Ensembl Gene ENSMUSG00000005897
Gene Name nuclear receptor subfamily 2, group C, member 1
Synonyms TR2, 4831444H07Rik, Eenr, Tr2-11
MMRRC Submission 038364-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0077 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 93983885-94033073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94024117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 441 (F441I)
Ref Sequence ENSEMBL: ENSMUSP00000100927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290]
AlphaFold Q505F1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083362
Predicted Effect probably benign
Transcript: ENSMUST00000092213
AA Change: F441I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: F441I

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099343
AA Change: F441I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: F441I

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105290
AA Change: F441I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: F441I

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Meta Mutation Damage Score 0.1395 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.5%
Validation Efficiency 83% (159/192)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,919,532 (GRCm39) probably benign Het
Adgrl4 A G 3: 151,223,418 (GRCm39) I624V probably damaging Het
AI661453 A G 17: 47,780,287 (GRCm39) probably benign Het
Alg12 C T 15: 88,700,181 (GRCm39) E60K probably damaging Het
Angel2 A T 1: 190,665,284 (GRCm39) N72Y possibly damaging Het
Ank1 C A 8: 23,630,183 (GRCm39) P81Q probably damaging Het
Atp6v1c2 A T 12: 17,371,613 (GRCm39) D61E probably damaging Het
Bpi T A 2: 158,103,254 (GRCm39) M83K probably damaging Het
Capn7 A G 14: 31,090,072 (GRCm39) I642V probably benign Het
Ccdc134 T C 15: 82,015,938 (GRCm39) probably benign Het
Ccr3 C T 9: 123,829,061 (GRCm39) T132I probably damaging Het
Cfap65 C A 1: 74,971,077 (GRCm39) W80C probably damaging Het
Chaf1a T A 17: 56,354,384 (GRCm39) I218K unknown Het
Ddx23 A G 15: 98,554,481 (GRCm39) probably null Het
Dmkn A G 7: 30,464,719 (GRCm39) S231G probably benign Het
Ep300 T C 15: 81,525,514 (GRCm39) I1446T unknown Het
Fmnl1 T C 11: 103,080,795 (GRCm39) F318S probably damaging Het
Grik5 A T 7: 24,722,805 (GRCm39) V497E probably damaging Het
Gtf2ird2 T C 5: 134,242,925 (GRCm39) Y380H probably damaging Het
Hecw2 C T 1: 53,907,990 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,358 (GRCm39) I167V probably damaging Het
Kcnh2 T A 5: 24,527,700 (GRCm39) N884I probably benign Het
Krba1 T C 6: 48,382,159 (GRCm39) probably benign Het
Krt18 G T 15: 101,939,409 (GRCm39) R294L probably benign Het
Lctl T A 9: 64,029,389 (GRCm39) M1K probably null Het
Lingo2 G A 4: 35,708,375 (GRCm39) S535F possibly damaging Het
Lrba A C 3: 86,449,995 (GRCm39) N2105H probably damaging Het
Lrrc10 A G 10: 116,881,419 (GRCm39) D31G probably damaging Het
Lrrtm1 T A 6: 77,220,855 (GRCm39) V104E probably damaging Het
Mgat3 C T 15: 80,096,778 (GRCm39) T535I probably benign Het
Nav3 T C 10: 109,552,503 (GRCm39) I1780V possibly damaging Het
Nlrc4 A G 17: 74,753,826 (GRCm39) W186R probably damaging Het
Obscn A G 11: 58,942,347 (GRCm39) probably benign Het
Or1p1 T C 11: 74,179,501 (GRCm39) F10L probably benign Het
Or2a56 T C 6: 42,932,707 (GRCm39) S92P probably benign Het
Or56b34 T C 7: 104,937,726 (GRCm39) V142A probably damaging Het
Or5au1 T C 14: 52,273,442 (GRCm39) N42S possibly damaging Het
Osr1 A T 12: 9,629,691 (GRCm39) Y188F probably damaging Het
Pak2 A T 16: 31,852,661 (GRCm39) N293K possibly damaging Het
Pappa A T 4: 65,226,049 (GRCm39) T1301S probably damaging Het
Pde4dip G A 3: 97,660,442 (GRCm39) Q679* probably null Het
Pik3r5 T A 11: 68,377,448 (GRCm39) probably null Het
Plbd2 C T 5: 120,624,104 (GRCm39) probably null Het
Ppp1r3a G T 6: 14,754,516 (GRCm39) P244T possibly damaging Het
Pum1 C A 4: 130,499,985 (GRCm39) R960S probably benign Het
Ralgapb T C 2: 158,315,169 (GRCm39) Y845H probably damaging Het
Rbms1 A T 2: 60,589,179 (GRCm39) M287K possibly damaging Het
Rdh1 A T 10: 127,595,906 (GRCm39) I34F probably damaging Het
Rgl3 T A 9: 21,885,398 (GRCm39) Q644L probably benign Het
Rpap2 T C 5: 107,768,340 (GRCm39) S393P probably damaging Het
Rsad2 T C 12: 26,506,376 (GRCm39) S15G probably damaging Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
S100a11 A C 3: 93,431,509 (GRCm39) probably null Het
Septin4 T C 11: 87,472,022 (GRCm39) S11P probably benign Het
Serpina1c T C 12: 103,862,350 (GRCm39) S322G probably benign Het
Setdb1 A T 3: 95,248,762 (GRCm39) C385S probably damaging Het
Shank2 A T 7: 143,746,204 (GRCm39) I193F possibly damaging Het
Slc4a11 G T 2: 130,528,221 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tbcd C A 11: 121,485,100 (GRCm39) Q761K probably benign Het
Tmed6 C T 8: 107,792,198 (GRCm39) V16M probably damaging Het
Tmem229a T C 6: 24,955,701 (GRCm39) T18A probably benign Het
Tsc1 T A 2: 28,568,955 (GRCm39) probably benign Het
Ube2m T C 7: 12,769,657 (GRCm39) N49D probably damaging Het
Ubqlnl T C 7: 103,799,254 (GRCm39) D81G probably damaging Het
Vmn2r56 A G 7: 12,449,332 (GRCm39) V302A probably benign Het
Vmn2r73 T A 7: 85,525,075 (GRCm39) R24S probably benign Het
Wfs1 C A 5: 37,130,538 (GRCm39) S236I probably damaging Het
Xpot A T 10: 121,441,544 (GRCm39) N560K probably benign Het
Yipf3 A G 17: 46,562,503 (GRCm39) T303A probably benign Het
Zfp790 T C 7: 29,524,300 (GRCm39) W19R probably damaging Het
Zfp846 T C 9: 20,505,303 (GRCm39) C388R probably benign Het
Zpr1 T A 9: 46,184,634 (GRCm39) I47N probably damaging Het
Other mutations in Nr2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Nr2c1 APN 10 94,026,552 (GRCm39) missense probably damaging 0.97
IGL02739:Nr2c1 APN 10 93,992,834 (GRCm39) missense probably damaging 0.99
chillax UTSW 10 93,999,648 (GRCm39) missense probably benign 0.38
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
Predicted Primers PCR Primer
(F):5'- CCGGAAGTCTTCCTGTAGCTGTTC -3'
(R):5'- CTGATTGATAACCCAGCCTCAGGTG -3'

Sequencing Primer
(F):5'- AGCTGTTCCTATGAACTGGC -3'
(R):5'- ATAACCCAGCCTCAGGTGTTATG -3'
Posted On 2013-04-11