Incidental Mutation 'IGL01578:Nr2c2'
ID91333
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 #IGL01578
Quality Score
Status
Chromosome6
Chromosomal Location92091390-92174294 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92162038 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 486 (N486S)
Ref Sequence ENSEMBL: ENSMUSP00000109090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000113463] [ENSMUST00000146175]
Predicted Effect probably benign
Transcript: ENSMUST00000113460
AA Change: N453S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: N453S

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: N486S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: N486S

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 probably benign
Transcript: ENSMUST00000146175
AA Change: N453S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: N453S

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,710 E3167G unknown Het
Arhgap28 G A 17: 67,858,200 T516I probably benign Het
Birc6 T C 17: 74,648,197 C3486R probably benign Het
Camk2g G A 14: 20,747,854 probably benign Het
Dmxl1 T A 18: 49,962,205 H2950Q probably damaging Het
Eml6 A T 11: 29,850,870 S379T probably benign Het
Epb41l3 C T 17: 69,248,709 H13Y probably damaging Het
Fam149a A T 8: 45,350,442 D337E probably damaging Het
Galnt14 T A 17: 73,535,366 probably benign Het
Gm6489 G T 1: 31,287,335 noncoding transcript Het
Hspg2 G A 4: 137,539,183 R1885H probably damaging Het
Jag1 T A 2: 137,100,051 probably benign Het
Nalcn A T 14: 123,572,091 N216K probably benign Het
Ndst1 T C 18: 60,713,126 Y37C probably damaging Het
Obscn A T 11: 58,999,680 L7342Q unknown Het
Olfr1051 C A 2: 86,275,741 V249F probably damaging Het
Olfr1402 A T 3: 97,410,720 C154S probably damaging Het
Olfr661 A G 7: 104,688,845 I277V probably benign Het
Pou4f2 A C 8: 78,435,655 D106E probably damaging Het
Ppic G A 18: 53,417,929 P10S unknown Het
Psd2 A G 18: 35,979,785 T178A probably damaging Het
Slc25a34 G T 4: 141,622,510 probably null Het
Stap2 A G 17: 55,997,623 S360P probably benign Het
Stx3 T C 19: 11,786,605 E129G probably damaging Het
Sun3 T A 11: 9,029,436 E28D probably damaging Het
Tmem126a C T 7: 90,451,542 probably null Het
Trove2 A T 1: 143,761,300 N391K probably damaging Het
Trpc6 A T 9: 8,634,057 H379L probably damaging Het
Ttf2 A G 3: 100,956,195 S608P possibly damaging Het
Tubgcp3 T C 8: 12,661,297 probably benign 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
IGL02281:Nr2c2 APN 6 92154514 missense probably benign 0.20
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 On2013-12-09