Incidental Mutation 'R1503:Nr2c2'
ID 169439
Institutional Source Beutler Lab
Gene Symbol Nr2c2
Ensembl Gene ENSMUSG00000005893
Gene Name nuclear receptor subfamily 2, group C, member 2
Synonyms TAK1, Tr4
MMRRC Submission 039553-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R1503 (G1)
Quality Score 218
Status Not validated
Chromosome 6
Chromosomal Location 92091390-92174294 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92105331 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 9 (V9D)
Ref Sequence ENSEMBL: ENSMUSP00000109090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000113463]
AlphaFold P49117
Predicted Effect probably benign
Transcript: ENSMUST00000113460
SMART Domains Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893

ZnF_C4 114 185 4.33e-40 SMART
Blast:HOLI 238 324 4e-46 BLAST
HOLI 388 554 1.9e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113463
AA Change: V9D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: V9D

ZnF_C4 147 218 4.33e-40 SMART
Blast:HOLI 271 357 6e-46 BLAST
HOLI 421 587 1.9e-36 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice display reduced body size, reduced male fertility, and impaired spermatogenesis. Mice homozygous for a conditional allele activated in the CNS exhibit increased thermal, mechanical and chemical nociception threshold, decreased pruritus and neuronal loss in the spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef6 T C X: 57,338,562 (GRCm38) M5V probably benign Het
Atf7ip G T 6: 136,606,867 (GRCm38) V1299L probably damaging Het
Atp12a A T 14: 56,373,424 (GRCm38) N342Y probably damaging Het
Atp8b5 G A 4: 43,344,430 (GRCm38) G439D probably damaging Het
Bpifb2 G A 2: 153,889,510 (GRCm38) D269N possibly damaging Het
Btd T G 14: 31,667,655 (GRCm38) C444W probably damaging Het
Cacna1a A G 8: 84,601,946 (GRCm38) D1624G probably benign Het
Carmil3 A C 14: 55,498,280 (GRCm38) N563T probably damaging Het
Cars T C 7: 143,568,989 (GRCm38) R538G probably benign Het
Catsperd A G 17: 56,654,525 (GRCm38) K416E possibly damaging Het
Cc2d2a A T 5: 43,695,239 (GRCm38) Y386F probably damaging Het
Ccpg1 A G 9: 72,999,478 (GRCm38) N66S probably benign Het
Cd48 T A 1: 171,695,847 (GRCm38) L86H probably damaging Het
Cdan1 A T 2: 120,729,575 (GRCm38) H369Q probably damaging Het
Chil4 T C 3: 106,206,034 (GRCm38) D189G probably benign Het
Cit T A 5: 115,873,900 (GRCm38) Y189N possibly damaging Het
Cntn3 G A 6: 102,464,565 (GRCm38) Q7* probably null Het
Csn1s2a A T 5: 87,775,799 (GRCm38) I5F possibly damaging Het
Ctnnd1 C T 2: 84,605,179 (GRCm38) probably null Het
Dmxl2 A T 9: 54,446,988 (GRCm38) Y391* probably null Het
Dnah12 T C 14: 26,773,692 (GRCm38) S1426P probably damaging Het
Dnhd1 T G 7: 105,693,660 (GRCm38) S1404A possibly damaging Het
Drosha T A 15: 12,848,073 (GRCm38) C484S probably benign Het
Dsg4 A T 18: 20,449,679 (GRCm38) I125F probably damaging Het
Egfr T A 11: 16,869,301 (GRCm38) M277K possibly damaging Het
Eml5 G T 12: 98,831,174 (GRCm38) L1059I probably damaging Het
Erbb4 G T 1: 68,346,546 (GRCm38) H295N probably benign Het
Etl4 T G 2: 20,743,874 (GRCm38) V139G possibly damaging Het
Fam160a1 T A 3: 85,672,477 (GRCm38) Y807F possibly damaging Het
Frem3 A T 8: 80,687,018 (GRCm38) E1969D probably damaging Het
Gdf3 T A 6: 122,606,337 (GRCm38) D357V probably damaging Het
Gimap8 T A 6: 48,647,529 (GRCm38) probably null Het
Gml2 C A 15: 74,821,352 (GRCm38) S68* probably null Het
Gphn A G 12: 78,504,629 (GRCm38) I248V possibly damaging Het
Greb1 A T 12: 16,724,819 (GRCm38) Y192* probably null Het
Hmbs A C 9: 44,337,432 (GRCm38) L215W probably benign Het
Iglon5 T A 7: 43,479,025 (GRCm38) T123S probably benign Het
Ints2 C T 11: 86,226,781 (GRCm38) R705H probably damaging Het
Ints8 A T 4: 11,245,842 (GRCm38) L212Q probably damaging Het
Itgad A G 7: 128,198,121 (GRCm38) Y846C probably benign Het
Kcnj1 A G 9: 32,396,492 (GRCm38) T51A probably damaging Het
Kif1bp A G 10: 62,559,408 (GRCm38) V485A probably damaging Het
Kif9 A T 9: 110,510,438 (GRCm38) K449N possibly damaging Het
Klk11 G A 7: 43,778,909 (GRCm38) W241* probably null Het
Krt32 T C 11: 100,084,110 (GRCm38) probably null Het
Loxl1 A G 9: 58,293,640 (GRCm38) F513S probably damaging Het
Mapk8ip3 A T 17: 24,904,923 (GRCm38) S571T probably damaging Het
Mcam C T 9: 44,141,291 (GRCm38) R606C probably damaging Het
Mtss1 T C 15: 58,951,672 (GRCm38) N282S probably damaging Het
Myh13 T A 11: 67,353,674 (GRCm38) D1012E probably benign Het
Myo16 A G 8: 10,502,817 (GRCm38) T952A probably benign Het
Neb T C 2: 52,298,620 (GRCm38) D874G probably damaging Het
Nek11 A G 9: 105,163,204 (GRCm38) Y553H probably damaging Het
Nxf1 T A 19: 8,762,436 (GRCm38) F51L probably benign Het
Olfr1260 T C 2: 89,978,528 (GRCm38) V250A probably damaging Het
Olfr1347 T C 7: 6,488,179 (GRCm38) I232V probably damaging Het
Olfr1350 A G 7: 6,570,471 (GRCm38) N160S probably damaging Het
Olfr170 A G 16: 19,606,312 (GRCm38) S119P probably benign Het
Olfr344 A T 2: 36,568,873 (GRCm38) I92F probably damaging Het
Olfr397 T G 11: 73,964,568 (GRCm38) probably null Het
Olfr750 A G 14: 51,070,734 (GRCm38) S220P probably damaging Het
Pcdhb8 A T 18: 37,356,519 (GRCm38) N76Y probably damaging Het
Pdzrn4 T A 15: 92,399,804 (GRCm38) F217I probably damaging Het
Ppp1r16a T A 15: 76,694,399 (GRCm38) H434Q probably benign Het
Prpf19 T A 19: 10,901,022 (GRCm38) F291I possibly damaging Het
R3hdm2 G T 10: 127,471,826 (GRCm38) E319* probably null Het
Sel1l3 A G 5: 53,137,929 (GRCm38) Y777H probably damaging Het
Serpinb5 G A 1: 106,870,289 (GRCm38) A3T possibly damaging Het
Skp2 C A 15: 9,127,911 (GRCm38) V88F probably damaging Het
Slc25a16 T C 10: 62,928,376 (GRCm38) Y71H probably damaging Het
Slc6a6 T A 6: 91,740,992 (GRCm38) I304N probably damaging Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Sox17 C A 1: 4,491,928 (GRCm38) G222C probably damaging Het
Trmu T A 15: 85,895,019 (GRCm38) V289E possibly damaging Het
Vdac2 A G 14: 21,837,877 (GRCm38) E96G probably damaging Het
Wdhd1 A T 14: 47,247,400 (GRCm38) D885E probably benign Het
Zfp646 A G 7: 127,880,136 (GRCm38) N495S probably damaging Het
Zfp663 T C 2: 165,352,653 (GRCm38) T549A probably damaging Het
Zfp935 G A 13: 62,455,137 (GRCm38) A83V possibly damaging Het
Other mutations in Nr2c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Nr2c2 APN 6 92,149,719 (GRCm38) missense probably damaging 1.00
IGL01129:Nr2c2 APN 6 92,158,416 (GRCm38) missense probably benign 0.08
IGL01578:Nr2c2 APN 6 92,162,038 (GRCm38) missense probably benign 0.01
IGL02281:Nr2c2 APN 6 92,154,514 (GRCm38) missense probably benign 0.20
R1385:Nr2c2 UTSW 6 92,154,470 (GRCm38) missense probably damaging 1.00
R1397:Nr2c2 UTSW 6 92,149,764 (GRCm38) missense probably benign 0.34
R1691:Nr2c2 UTSW 6 92,156,692 (GRCm38) missense probably damaging 0.99
R1779:Nr2c2 UTSW 6 92,159,243 (GRCm38) missense possibly damaging 0.50
R2655:Nr2c2 UTSW 6 92,163,138 (GRCm38) missense probably damaging 0.99
R3840:Nr2c2 UTSW 6 92,163,138 (GRCm38) missense probably damaging 0.99
R3841:Nr2c2 UTSW 6 92,163,138 (GRCm38) missense probably damaging 0.99
R3923:Nr2c2 UTSW 6 92,160,401 (GRCm38) missense probably damaging 0.98
R3926:Nr2c2 UTSW 6 92,160,401 (GRCm38) missense probably damaging 0.98
R3945:Nr2c2 UTSW 6 92,163,138 (GRCm38) missense probably damaging 0.99
R3946:Nr2c2 UTSW 6 92,163,138 (GRCm38) missense probably damaging 0.99
R4721:Nr2c2 UTSW 6 92,139,847 (GRCm38) missense possibly damaging 0.49
R5038:Nr2c2 UTSW 6 92,139,822 (GRCm38) missense probably damaging 1.00
R5101:Nr2c2 UTSW 6 92,154,516 (GRCm38) critical splice donor site probably null
R5524:Nr2c2 UTSW 6 92,139,765 (GRCm38) splice site probably null
R6884:Nr2c2 UTSW 6 92,158,393 (GRCm38) missense probably benign 0.05
R7046:Nr2c2 UTSW 6 92,158,357 (GRCm38) missense probably damaging 1.00
R7278:Nr2c2 UTSW 6 92,159,378 (GRCm38) missense probably damaging 0.96
R7316:Nr2c2 UTSW 6 92,154,463 (GRCm38) missense probably damaging 0.99
R9238:Nr2c2 UTSW 6 92,167,549 (GRCm38) missense probably damaging 1.00
R9497:Nr2c2 UTSW 6 92,156,692 (GRCm38) missense possibly damaging 0.73
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13