Incidental Mutation 'R1802:Nr2c1'
ID 203224
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 039832-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1802 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 93983885-94033073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93999648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 103 (V103M)
Ref Sequence ENSEMBL: ENSMUSP00000100927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092213] [ENSMUST00000099343] [ENSMUST00000105290]
AlphaFold Q505F1
Predicted Effect possibly damaging
Transcript: ENSMUST00000092213
AA Change: V103M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089858
Gene: ENSMUSG00000005897
AA Change: V103M

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000099343
AA Change: V103M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096945
Gene: ENSMUSG00000005897
AA Change: V103M

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105290
AA Change: V103M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100927
Gene: ENSMUSG00000005897
AA Change: V103M

DomainStartEndE-ValueType
ZnF_C4 98 169 3.18e-38 SMART
HOLI 382 548 4.94e-35 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G T 15: 91,047,305 (GRCm39) R583S probably benign Het
Ago2 A T 15: 72,993,029 (GRCm39) F492Y probably damaging Het
Ano4 T A 10: 88,816,878 (GRCm39) D610V probably damaging Het
Atp6v0d2 A G 4: 19,922,366 (GRCm39) probably null Het
Atxn7 T G 14: 14,089,419 (GRCm38) S312A probably benign Het
Azgp1 A G 5: 137,983,493 (GRCm39) Y56C probably damaging Het
Bcan A G 3: 87,900,415 (GRCm39) V606A possibly damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
Ccdc63 T C 5: 122,267,940 (GRCm39) R9G probably damaging Het
Cdyl T A 13: 36,056,619 (GRCm39) L534* probably null Het
Celf2 T C 2: 6,554,744 (GRCm39) E445G probably damaging Het
Cfap97d1 T A 11: 101,879,302 (GRCm39) Y25N possibly damaging Het
Cimap3 T A 3: 105,921,866 (GRCm39) Q19L possibly damaging Het
Cnot8 T C 11: 58,008,361 (GRCm39) C276R probably benign Het
Dock4 A G 12: 40,844,597 (GRCm39) I1135V possibly damaging Het
Edc3 A G 9: 57,634,598 (GRCm39) D205G probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Fancl T G 11: 26,409,709 (GRCm39) S188R probably benign Het
Fbn2 T A 18: 58,186,048 (GRCm39) K1767* probably null Het
Glrb A T 3: 80,769,264 (GRCm39) H154Q probably damaging Het
Gm19965 C T 1: 116,748,633 (GRCm39) R105* probably null Het
Grhpr C A 4: 44,988,950 (GRCm39) Y202* probably null Het
Herc2 A G 7: 55,834,080 (GRCm39) E3095G probably damaging Het
Il22ra2 A T 10: 19,502,447 (GRCm39) N89Y probably damaging Het
Itgb6 T C 2: 60,483,625 (GRCm39) D261G probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kif1a T A 1: 92,993,871 (GRCm39) I360F probably damaging Het
Kmt2d T C 15: 98,760,866 (GRCm39) Q828R unknown Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mios T A 6: 8,216,385 (GRCm39) Y436* probably null Het
Mprip C T 11: 59,645,867 (GRCm39) L684F probably damaging Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Naga C T 15: 82,221,669 (GRCm39) R24Q probably benign Het
Oca2 A G 7: 55,904,728 (GRCm39) S65G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or52ab7 A G 7: 102,977,854 (GRCm39) I54V probably benign Het
Phyhipl A T 10: 70,434,855 (GRCm39) I28N probably benign Het
Pik3cb C A 9: 98,983,342 (GRCm39) E89* probably null Het
Plekhm2 A T 4: 141,361,658 (GRCm39) S262T probably benign Het
Ppm1a T A 12: 72,840,481 (GRCm39) probably null Het
Relt T C 7: 100,499,401 (GRCm39) I173V probably damaging Het
Rfx7 T A 9: 72,526,919 (GRCm39) S1370T possibly damaging Het
Rps7 G A 12: 28,684,258 (GRCm39) R81C probably benign Het
Saa3 T C 7: 46,361,550 (GRCm39) *123W probably null Het
Serpina3b C A 12: 104,104,896 (GRCm39) H357Q probably damaging Het
Slc9c1 T A 16: 45,378,644 (GRCm39) N493K probably benign Het
Spata31 T C 13: 65,070,197 (GRCm39) Y782H probably benign Het
Tfap2a T C 13: 40,878,646 (GRCm39) D166G probably damaging Het
Thada A T 17: 84,771,835 (GRCm39) M9K probably benign Het
Tmem269 A T 4: 119,068,070 (GRCm39) probably null Het
Tnxb C A 17: 34,922,863 (GRCm39) P2482Q probably damaging Het
Vit T C 17: 78,912,940 (GRCm39) V291A possibly damaging Het
Zfp930 G T 8: 69,679,046 (GRCm39) A18S possibly damaging Het
Zup1 A T 10: 33,819,714 (GRCm39) V200D 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
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
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'- GCCTATGTGTGAAAGAAAACTAGC -3'
(R):5'- TGTGTTTACCTCTAGACAGTGAAACC -3'

Sequencing Primer
(F):5'- TGTGTGAAAGAAAACTAGCATAACTG -3'
(R):5'- TTACCTCTAGACAGTGAAACCAAAAC -3'
Posted On 2014-06-23