Incidental Mutation 'R1779:Nr2c2'
ID 197337
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 039810-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R1779 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 92091390-92174294 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92159243 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 355 (T355A)
Ref Sequence ENSEMBL: ENSMUSP00000109090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000113463] [ENSMUST00000146175]
AlphaFold P49117
Predicted Effect probably benign
Transcript: ENSMUST00000113460
AA Change: T322A

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: T322A

DomainStartEndE-ValueType
ZnF_C4 114 185 4.33e-40 SMART
Blast:HOLI 238 324 4e-46 BLAST
HOLI 388 554 1.9e-36 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113463
AA Change: T355A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: T355A

DomainStartEndE-ValueType
ZnF_C4 147 218 4.33e-40 SMART
Blast:HOLI 271 357 6e-46 BLAST
HOLI 421 587 1.9e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133321
Predicted Effect probably benign
Transcript: ENSMUST00000146175
AA Change: T322A

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: T322A

DomainStartEndE-ValueType
ZnF_C4 114 185 4.33e-40 SMART
Blast:HOLI 238 324 7e-47 BLAST
Pfam:Hormone_recep 367 493 8.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204497
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,406,514 (GRCm38) L476F probably damaging Het
1700061G19Rik T A 17: 56,885,169 (GRCm38) Y577* probably null Het
4930432E11Rik A T 7: 29,579,166 (GRCm38) noncoding transcript Het
A930011G23Rik A T 5: 99,223,038 (GRCm38) probably benign Het
Abcd3 A G 3: 121,781,963 (GRCm38) Y217H probably damaging Het
Abraxas1 A T 5: 100,817,956 (GRCm38) probably benign Het
Acsbg1 T C 9: 54,616,062 (GRCm38) Y427C probably damaging Het
Adam10 T A 9: 70,776,369 (GRCm38) probably benign Het
Adam24 G A 8: 40,680,965 (GRCm38) V491I possibly damaging Het
Adamts2 T G 11: 50,756,697 (GRCm38) V299G probably damaging Het
Adh7 A G 3: 138,223,991 (GRCm38) T143A probably damaging Het
Ahcyl1 A G 3: 107,674,103 (GRCm38) S81P probably benign Het
Arhgap20 C A 9: 51,849,915 (GRCm38) T986K probably benign Het
Atp13a5 A T 16: 29,314,660 (GRCm38) I391N possibly damaging Het
Atp6v0a1 C A 11: 101,026,685 (GRCm38) A143E probably benign Het
Calcrl A G 2: 84,351,285 (GRCm38) I173T probably damaging Het
Casz1 A G 4: 148,932,937 (GRCm38) T228A probably benign Het
Cckar A G 5: 53,699,979 (GRCm38) I292T probably damaging Het
Cfhr2 T A 1: 139,858,645 (GRCm38) probably null Het
Chkb T C 15: 89,429,057 (GRCm38) I109V possibly damaging Het
Clec2i T C 6: 128,888,106 (GRCm38) probably null Het
Clec4a4 T A 6: 123,023,975 (GRCm38) W216R probably damaging Het
Cntnap1 A C 11: 101,186,511 (GRCm38) I1000L probably damaging Het
Cp C A 3: 19,957,385 (GRCm38) D34E possibly damaging Het
Cse1l T C 2: 166,940,124 (GRCm38) probably null Het
Dennd3 T C 15: 73,522,508 (GRCm38) probably null Het
Dnah7a A G 1: 53,577,223 (GRCm38) V1193A probably benign Het
Eaf2 A G 16: 36,810,470 (GRCm38) probably null Het
Ephb2 T C 4: 136,693,825 (GRCm38) T405A possibly damaging Het
Fam117a G A 11: 95,378,953 (GRCm38) V348M probably damaging Het
Fh1 T C 1: 175,601,424 (GRCm38) *167W probably null Het
Fmo9 T A 1: 166,663,299 (GRCm38) I486F probably benign Het
Gabbr1 T A 17: 37,054,879 (GRCm38) I150N probably damaging Het
Gfpt1 T C 6: 87,077,197 (GRCm38) V478A possibly damaging Het
Gm11639 T A 11: 104,720,939 (GRCm38) S536T probably benign Het
Gm2663 A T 6: 40,997,960 (GRCm38) V59E probably damaging Het
Gm4868 T A 5: 125,848,112 (GRCm38) noncoding transcript Het
Heatr4 T A 12: 83,980,160 (GRCm38) T108S probably benign Het
Hells G T 19: 38,946,842 (GRCm38) A319S probably benign Het
Helz2 A G 2: 181,234,987 (GRCm38) V1238A probably benign Het
Helz2 T A 2: 181,238,459 (GRCm38) Q488L possibly damaging Het
Hkdc1 A G 10: 62,391,383 (GRCm38) F765S probably damaging Het
Hspg2 T A 4: 137,518,509 (GRCm38) W938R probably damaging Het
Itpr2 G A 6: 146,158,901 (GRCm38) R2473* probably null Het
Kctd1 C T 18: 15,061,782 (GRCm38) V595I probably benign Het
Krt7 A G 15: 101,423,409 (GRCm38) Y369C probably damaging Het
Krt72 T C 15: 101,780,929 (GRCm38) T323A probably benign Het
Krt76 A G 15: 101,892,687 (GRCm38) L58P unknown Het
Liph C A 16: 21,968,050 (GRCm38) R272L probably benign Het
Lrrc9 A T 12: 72,455,998 (GRCm38) K248* probably null Het
Mei4 T A 9: 81,927,142 (GRCm38) S93T probably damaging Het
Mgll T A 6: 88,813,948 (GRCm38) Y183* probably null Het
Myo5b A G 18: 74,742,147 (GRCm38) M1541V probably benign Het
Napg A G 18: 62,982,691 (GRCm38) E66G probably benign Het
Npr3 T C 15: 11,851,486 (GRCm38) D406G probably damaging Het
Olfr1243 A T 2: 89,527,645 (GRCm38) I255K probably benign Het
Olfr1461 T C 19: 13,165,040 (GRCm38) Y9H probably benign Het
Olfr26 A G 9: 38,855,550 (GRCm38) M163V possibly damaging Het
Olfr618 A T 7: 103,597,900 (GRCm38) I195F probably damaging Het
Olfr624 A G 7: 103,670,638 (GRCm38) I131T probably benign Het
Olfr631 G T 7: 103,929,461 (GRCm38) V213L probably benign Het
Olfr71 G A 4: 43,706,041 (GRCm38) H176Y probably damaging Het
Orai2 T C 5: 136,150,939 (GRCm38) E80G probably damaging Het
Pcdhb14 T A 18: 37,449,482 (GRCm38) V547E probably damaging Het
Pcdhb15 T C 18: 37,476,031 (GRCm38) I772T possibly damaging Het
Pcnt T C 10: 76,408,796 (GRCm38) Q1150R probably damaging Het
Pdcd6 A G 13: 74,305,581 (GRCm38) I146T probably damaging Het
Phldb2 T A 16: 45,801,625 (GRCm38) D664V probably damaging Het
Pik3ap1 A T 19: 41,332,234 (GRCm38) V182E probably damaging Het
Pip4k2a A G 2: 18,847,622 (GRCm38) V283A probably benign Het
Pkdrej A G 15: 85,821,171 (GRCm38) V188A possibly damaging Het
Pnpla6 T C 8: 3,541,404 (GRCm38) W1151R probably damaging Het
Ppp1r14c A G 10: 3,366,890 (GRCm38) Y75C probably damaging Het
Prl2b1 C T 13: 27,383,469 (GRCm38) D224N probably benign Het
Ptgis A G 2: 167,214,858 (GRCm38) S270P probably benign Het
Rgs11 C A 17: 26,210,666 (GRCm38) A446D probably damaging Het
Rims2 A G 15: 39,681,702 (GRCm38) T1531A probably damaging Het
Sbno1 A T 5: 124,388,517 (GRCm38) probably benign Het
Scarb2 C G 5: 92,448,557 (GRCm38) M409I probably benign Het
Scube3 C T 17: 28,168,379 (GRCm38) probably benign Het
Slc44a4 T C 17: 34,921,925 (GRCm38) I180T probably damaging Het
Slc9a2 T C 1: 40,742,643 (GRCm38) M344T probably damaging Het
Smc3 A T 19: 53,639,369 (GRCm38) T860S probably benign Het
Snrpa A G 7: 27,191,749 (GRCm38) I99T probably benign Het
Sorcs1 A G 19: 50,175,043 (GRCm38) probably benign Het
Sorl1 C T 9: 41,991,482 (GRCm38) probably null Het
Suds3 T C 5: 117,105,244 (GRCm38) K143R probably benign Het
Supt20 A T 3: 54,714,743 (GRCm38) M424L probably benign Het
Tgtp2 T C 11: 49,058,924 (GRCm38) M274V probably benign Het
Tmem158 T A 9: 123,259,909 (GRCm38) M213L probably benign Het
Tnks C A 8: 34,857,518 (GRCm38) R639L probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Trmt10c A C 16: 56,034,575 (GRCm38) N232K possibly damaging Het
Trpm6 C T 19: 18,856,217 (GRCm38) R1587W probably damaging Het
Trrap G A 5: 144,828,590 (GRCm38) V2539I probably benign Het
Tsg101 A G 7: 46,907,087 (GRCm38) S115P probably benign Het
Ttll13 G T 7: 80,260,508 (GRCm38) V800L probably benign Het
Vmn1r57 A G 7: 5,220,577 (GRCm38) T34A possibly damaging Het
Vmn2r118 T A 17: 55,611,530 (GRCm38) T121S probably benign Het
Wdr35 A G 12: 8,985,772 (GRCm38) I238M possibly damaging Het
Wisp2 G A 2: 163,828,986 (GRCm38) V138M probably damaging Het
Zfp81 T A 17: 33,335,106 (GRCm38) T245S probably benign Het
Zfyve26 G T 12: 79,278,463 (GRCm38) P824Q probably 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
R1503:Nr2c2 UTSW 6 92,105,331 (GRCm38) missense probably benign
R1691:Nr2c2 UTSW 6 92,156,692 (GRCm38) missense probably damaging 0.99
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
(F):5'- ATGGGGACTTACTGGGAGCTACAC -3'
(R):5'- GTGATGTGCCACACTTATTGGAGGG -3'

Sequencing Primer
(F):5'- TTACTGGGAGCTACACAGTCC -3'
(R):5'- TGTATAGGTAAAGCACCTGGCTC -3'
Posted On 2014-05-23