Incidental Mutation 'R0349:Nr2c1'
ID 36100
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 038556-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0349 (G1)
Quality Score 185
Status Not validated
Chromosome 10
Chromosomal Location 93983885-94033073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94031044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 535 (S535L)
Ref Sequence ENSEMBL: ENSMUSP00000100927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020209] [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290] [ENSMUST00000135292] [ENSMUST00000179990]
AlphaFold Q505F1
Predicted Effect probably benign
Transcript: ENSMUST00000020209
SMART Domains Protein: ENSMUSP00000020209
Gene: ENSMUSG00000020022

DomainStartEndE-ValueType
Pfam:NDUFA12 36 141 2.1e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092213
AA Change: S535L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: S535L

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: S535L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: S535L

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: S535L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: S535L

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125379
Predicted Effect probably benign
Transcript: ENSMUST00000135292
SMART Domains Protein: ENSMUSP00000119625
Gene: ENSMUSG00000020022

DomainStartEndE-ValueType
Pfam:NDUFA12 36 85 1.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179990
SMART Domains Protein: ENSMUSP00000136313
Gene: ENSMUSG00000020022

DomainStartEndE-ValueType
Pfam:NDUFA12 40 143 1.4e-32 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.3%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A T 19: 31,910,062 (GRCm39) S285C possibly damaging Het
Abcc9 A T 6: 142,610,351 (GRCm39) N604K probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgrl3 A G 5: 81,919,491 (GRCm39) T1192A probably damaging Het
Aldh1l2 A T 10: 83,326,478 (GRCm39) Y800N probably damaging Het
Ano3 A T 2: 110,491,832 (GRCm39) V865D probably damaging Het
App A T 16: 84,810,568 (GRCm39) L545Q probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
B3galnt2 T C 13: 14,166,059 (GRCm39) V318A probably benign Het
Clcn3 T A 8: 61,394,382 (GRCm39) D49V possibly damaging Het
Clcn6 T A 4: 148,108,651 (GRCm39) K126M possibly damaging Het
Cntln T A 4: 84,914,722 (GRCm39) S510T probably damaging Het
Csk A C 9: 57,535,477 (GRCm39) C290W probably damaging Het
Dmxl1 T A 18: 50,012,349 (GRCm39) M1502K probably damaging Het
Dpy19l2 T A 9: 24,607,218 (GRCm39) N81I possibly damaging Het
Dpyd T A 3: 118,710,748 (GRCm39) C385* probably null Het
Dst G A 1: 34,238,634 (GRCm39) V1765I probably benign Het
Eif5b A G 1: 38,071,447 (GRCm39) S459G probably benign Het
Fam83d A G 2: 158,621,768 (GRCm39) I160V possibly damaging Het
Fat3 A G 9: 15,942,476 (GRCm39) F1299L probably damaging Het
Fmn1 A G 2: 113,196,141 (GRCm39) I614V unknown Het
Fsd1l T A 4: 53,679,854 (GRCm39) V184E probably damaging Het
Fyco1 A G 9: 123,626,727 (GRCm39) V1328A probably damaging Het
Ganab T A 19: 8,889,016 (GRCm39) N572K probably null Het
Gbp10 T A 5: 105,368,942 (GRCm39) D299V possibly damaging Het
Gpr83 T G 9: 14,779,563 (GRCm39) L205R probably damaging Het
Hapln2 G A 3: 87,930,936 (GRCm39) P152S probably damaging Het
Htatip2 T C 7: 49,423,140 (GRCm39) Y232H probably benign Het
Itga2b C T 11: 102,358,252 (GRCm39) V158I probably damaging Het
Kansl3 T C 1: 36,390,864 (GRCm39) D390G probably damaging Het
Kcnh2 T C 5: 24,556,235 (GRCm39) D16G probably benign Het
Kctd8 A T 5: 69,498,353 (GRCm39) F98I probably damaging Het
Kif21b A T 1: 136,077,049 (GRCm39) E357V probably damaging Het
Kmt5c C T 7: 4,749,594 (GRCm39) R371C probably damaging Het
Kndc1 T C 7: 139,490,220 (GRCm39) F241L probably benign Het
Lrba A G 3: 86,447,312 (GRCm39) D2052G probably damaging Het
Lsr T A 7: 30,658,698 (GRCm39) I54F probably damaging Het
Matk G T 10: 81,094,328 (GRCm39) L28F probably benign Het
Mdn1 T C 4: 32,750,318 (GRCm39) L4429P probably damaging Het
Med29 CCTGCTGCTGCTGCTGC CCTGCTGCTGCTGC 7: 28,091,935 (GRCm39) probably benign Het
Msln G T 17: 25,969,250 (GRCm39) Q407K possibly damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Myof A G 19: 37,899,417 (GRCm39) I1040T probably damaging Het
Nckap5 A G 1: 125,954,171 (GRCm39) S794P probably benign Het
Nfkbiz C T 16: 55,639,354 (GRCm39) probably null Het
Opn3 A C 1: 175,519,870 (GRCm39) L78R probably damaging Het
Or11h4b G A 14: 50,918,711 (GRCm39) R127C probably benign Het
Or52n3 A T 7: 104,530,199 (GRCm39) D95V possibly damaging Het
Or5b12 A T 19: 12,897,299 (GRCm39) C125S probably damaging Het
Otulinl T A 15: 27,664,876 (GRCm39) I27L probably benign Het
Pcdhb9 A G 18: 37,535,632 (GRCm39) N542S probably damaging Het
Pdc T A 1: 150,209,178 (GRCm39) N220K probably benign Het
Pde6c A T 19: 38,150,797 (GRCm39) N569Y probably damaging Het
Pgm1 A T 4: 99,820,814 (GRCm39) K219M probably damaging Het
Pitpnb C T 5: 111,494,992 (GRCm39) T99M possibly damaging Het
Pou6f2 T A 13: 18,326,589 (GRCm39) Q71L probably damaging Het
Pramel24 T G 4: 143,453,629 (GRCm39) W246G probably benign Het
Prkd1 C A 12: 50,413,139 (GRCm39) L677F probably damaging Het
Ranbp17 T C 11: 33,450,689 (GRCm39) I78V probably benign Het
Rnft2 T A 5: 118,339,450 (GRCm39) K362M possibly damaging Het
Rprd1a T A 18: 24,639,904 (GRCm39) E259V possibly damaging Het
Scara3 A T 14: 66,169,230 (GRCm39) I129N probably damaging Het
Scgb1a1 A T 19: 9,062,753 (GRCm39) probably null Het
Sec16b A T 1: 157,359,746 (GRCm39) probably null Het
Slc18a1 A T 8: 69,524,753 (GRCm39) M167K probably damaging Het
Slc6a15 C T 10: 103,254,086 (GRCm39) A674V probably benign Het
Slc6a3 T C 13: 73,715,676 (GRCm39) F437S probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stag1 T A 9: 100,658,837 (GRCm39) N141K probably damaging Het
Sun2 T C 15: 79,614,433 (GRCm39) E321G probably damaging Het
Taar2 C A 10: 23,817,327 (GRCm39) T289K possibly damaging Het
Taar2 T C 10: 23,817,407 (GRCm39) Y316H probably benign Het
Tbcd T A 11: 121,493,809 (GRCm39) probably null Het
Tecr G A 8: 84,298,904 (GRCm39) T106I probably damaging Het
Thoc2l T C 5: 104,667,842 (GRCm39) L788P possibly damaging Het
Tmem60 T G 5: 21,091,628 (GRCm39) V131G probably benign Het
Uimc1 A G 13: 55,223,804 (GRCm39) V156A probably benign Het
Usp28 G A 9: 48,921,581 (GRCm39) W266* probably null Het
Vmn2r17 T A 5: 109,576,202 (GRCm39) S358T probably damaging Het
Wwc2 T A 8: 48,321,701 (GRCm39) Y471F unknown Het
Ythdc1 C T 5: 86,983,579 (GRCm39) R675C probably damaging Het
Zfp30 T C 7: 29,493,029 (GRCm39) S428P probably damaging Het
Zfp462 T A 4: 55,008,768 (GRCm39) C245S probably benign Het
Zscan30 T C 18: 24,104,455 (GRCm39) noncoding transcript 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
R0077:Nr2c1 UTSW 10 94,024,117 (GRCm39) missense probably benign 0.01
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'- GTGTCTAAGTGTATCTGCCTGTGCC -3'
(R):5'- ATTCGCAGACTCCCTGGAAGCAAC -3'

Sequencing Primer
(F):5'- acctgtgtctgtgtgtctg -3'
(R):5'- TCTTGTGTCCCGAGAAGGAAC -3'
Posted On 2013-05-09