Incidental Mutation 'IGL02281:Nr2c2'
ID289839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2c2
Ensembl Gene ENSMUSG00000005893
Gene Namenuclear receptor subfamily 2, group C, member 2
SynonymsTAK1, Tr4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.610) question?
Stock #IGL02281
Quality Score
Status
Chromosome6
Chromosomal Location92091390-92174294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92154514 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 186 (S186T)
Ref Sequence ENSEMBL: ENSMUSP00000138465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000113463] [ENSMUST00000146175]
Predicted Effect probably benign
Transcript: ENSMUST00000113460
AA Change: S186T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: S186T

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 probably benign
Transcript: ENSMUST00000113463
AA Change: S219T

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: S219T

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: S186T

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: S186T

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: ENSMUST00000204497
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 105,567,154 E60G probably benign Het
Aldh3a1 T G 11: 61,217,123 probably null Het
Bach2 T C 4: 32,562,513 C327R possibly damaging Het
Bcam C T 7: 19,758,691 G523D probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Calm1 A T 12: 100,205,624 I112F probably damaging Het
Ceacam3 T C 7: 17,161,731 V542A probably benign Het
Clec5a A T 6: 40,584,402 D36E probably benign Het
Clspn T A 4: 126,565,770 C321S possibly damaging Het
Cmtr1 T A 17: 29,691,281 D453E probably benign Het
Cntnap1 T A 11: 101,182,254 D561E possibly damaging Het
Cul5 A G 9: 53,635,049 V137A possibly damaging Het
Cyp2b9 A G 7: 26,201,104 Y389C probably damaging Het
Ddi2 A G 4: 141,692,419 V340A probably benign Het
Etv4 T C 11: 101,773,719 Y235C probably damaging Het
Gm3099 G A 14: 4,001,257 probably benign Het
Gpsm1 T A 2: 26,339,626 probably benign Het
Idh2 A G 7: 80,095,802 probably null Het
Kit G A 5: 75,654,534 E973K possibly damaging Het
Lilra5 A G 7: 4,238,783 I194V probably benign Het
Lrp6 A C 6: 134,457,734 N1335K probably benign Het
Map9 G A 3: 82,391,146 E613K possibly damaging Het
Mroh2b G A 15: 4,952,263 A1519T probably benign Het
Nefm A G 14: 68,124,464 V117A probably damaging Het
Pde2a G A 7: 101,481,392 A80T probably benign Het
Plcd1 A T 9: 119,074,773 C334S probably benign Het
Pomt1 T C 2: 32,248,646 S425P possibly damaging Het
Pspc1 G T 14: 56,723,178 P497T probably benign Het
Rnf123 G A 9: 108,071,452 P58L probably benign Het
Rph3a T C 5: 120,948,833 T435A probably damaging Het
Rsbn1 T C 3: 103,962,461 L746P probably damaging Het
Sfrp2 A G 3: 83,773,139 E202G possibly damaging Het
Slc25a38 T C 9: 120,117,532 S111P probably damaging Het
Tfcp2l1 T C 1: 118,669,380 probably benign Het
Tonsl A T 15: 76,634,074 L566H probably damaging Het
Tsc1 C A 2: 28,663,595 D153E probably damaging Het
Vmn2r37 A T 7: 9,217,882 H327Q possibly damaging Het
Other mutations in Nr2c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Nr2c2 APN 6 92149719 missense probably damaging 1.00
IGL01129:Nr2c2 APN 6 92158416 missense probably benign 0.08
IGL01578:Nr2c2 APN 6 92162038 missense probably benign 0.01
R1385:Nr2c2 UTSW 6 92154470 missense probably damaging 1.00
R1397:Nr2c2 UTSW 6 92149764 missense probably benign 0.34
R1503:Nr2c2 UTSW 6 92105331 missense probably benign
R1691:Nr2c2 UTSW 6 92156692 missense probably damaging 0.99
R1779:Nr2c2 UTSW 6 92159243 missense possibly damaging 0.50
R2655:Nr2c2 UTSW 6 92163138 missense probably damaging 0.99
R3840:Nr2c2 UTSW 6 92163138 missense probably damaging 0.99
R3841:Nr2c2 UTSW 6 92163138 missense probably damaging 0.99
R3923:Nr2c2 UTSW 6 92160401 missense probably damaging 0.98
R3926:Nr2c2 UTSW 6 92160401 missense probably damaging 0.98
R3945:Nr2c2 UTSW 6 92163138 missense probably damaging 0.99
R3946:Nr2c2 UTSW 6 92163138 missense probably damaging 0.99
R4721:Nr2c2 UTSW 6 92139847 missense possibly damaging 0.49
R5038:Nr2c2 UTSW 6 92139822 missense probably damaging 1.00
R5101:Nr2c2 UTSW 6 92154516 critical splice donor site probably null
R5524:Nr2c2 UTSW 6 92139765 splice site probably null
R6884:Nr2c2 UTSW 6 92158393 missense probably benign 0.05
R7046:Nr2c2 UTSW 6 92158357 missense probably damaging 1.00
R7278:Nr2c2 UTSW 6 92159378 missense probably damaging 0.96
R7316:Nr2c2 UTSW 6 92154463 missense probably damaging 0.99
Posted On2015-04-16