Incidental Mutation 'IGL02626:Ar'
ID 301075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ar
Ensembl Gene ENSMUSG00000046532
Gene Name androgen receptor
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02626
Quality Score
Status
Chromosome X
Chromosomal Location 97192375-97366821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97358492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 756 (H756Y)
Ref Sequence ENSEMBL: ENSMUSP00000052648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052837]
AlphaFold P19091
PDB Structure AR LBD with small molecule [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000052837
AA Change: H756Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052648
Gene: ENSMUSG00000046532
AA Change: H756Y

DomainStartEndE-ValueType
Pfam:Androgen_recep 6 442 5.4e-231 PFAM
ZnF_C4 536 607 3.34e-32 SMART
HOLI 686 850 1.04e-33 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a nuclear hormone receptor containing zinc finger and DNA-binding domains. The encoded protein is a key regulator of signalling by androgens, a class of steroid hormones involved in male reproductive development. The protein responds to hormone signalling by translocating to the nucleus, forming dimers, and binding to androgen response elements (AREs) in the promoters of target genes, which are subsequently transcriptionally activated. Activity of this protein is negatively regulated by nuclear receptor subfamily 0 group B member 1 (Nr0b1, also known as Dax1). Mutations in this gene result in feminized genitals and infertility in male animals. Loss of function in female animals also causes problems in reproductive development and function. [provided by RefSeq, May 2015]
PHENOTYPE: Hemizygous mutant males are androgen-resistant and therefore have small, undescended testes, and lack epididymal structures, vas deferens, and male accessory glands. They resemble females physically and behaviorally, but lack female reproductive organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,810 (GRCm39) K1236E probably damaging Het
Actl7a A T 4: 56,744,353 (GRCm39) E293D possibly damaging Het
Adamts2 T C 11: 50,667,082 (GRCm39) Y460H probably damaging Het
Aoc1 G A 6: 48,883,044 (GRCm39) V307I probably benign Het
Atg3 C T 16: 45,004,048 (GRCm39) R224W probably benign Het
Atp5po G A 16: 91,483,201 (GRCm39) P47S probably damaging Het
Bicd1 A G 6: 149,311,054 (GRCm39) E43G probably damaging Het
Ccdc88c A G 12: 100,934,059 (GRCm39) probably benign Het
Cd33 A G 7: 43,179,736 (GRCm39) probably benign Het
Cd36 T A 5: 18,002,126 (GRCm39) R292* probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh23 T C 10: 60,227,580 (GRCm39) D1167G probably damaging Het
Cdk5rap1 A G 2: 154,207,880 (GRCm39) probably null Het
Chd6 A G 2: 160,881,270 (GRCm39) probably benign Het
Chd7 A T 4: 8,826,519 (GRCm39) Y961F probably damaging Het
Cpe T C 8: 65,145,829 (GRCm39) E52G probably benign Het
Cpne5 C T 17: 29,379,311 (GRCm39) G491S probably damaging Het
Csmd3 A T 15: 47,567,503 (GRCm39) probably benign Het
Ctbp2 T A 7: 132,600,940 (GRCm39) T608S probably benign Het
Cybb A G X: 9,335,439 (GRCm39) probably null Het
Daam2 T C 17: 49,797,282 (GRCm39) T168A possibly damaging Het
Dnah5 G T 15: 28,307,422 (GRCm39) V1717F possibly damaging Het
Dse G A 10: 34,029,158 (GRCm39) T644I probably damaging Het
Dtd2 A C 12: 52,051,708 (GRCm39) Y45* probably null Het
Fgfr1op2 T A 6: 146,491,509 (GRCm39) M124K probably benign Het
Flii T C 11: 60,610,685 (GRCm39) D537G probably benign Het
Fntb T A 12: 76,944,145 (GRCm39) I217N probably benign Het
Foxi1 A G 11: 34,155,860 (GRCm39) S257P probably benign Het
Fyn G A 10: 39,402,798 (GRCm39) R190H probably damaging Het
Gm28557 T A 13: 67,223,008 (GRCm39) T8S probably benign Het
Gramd1b T C 9: 40,209,306 (GRCm39) K873E probably damaging Het
Grb10 T C 11: 11,895,503 (GRCm39) T329A probably benign Het
Haus5 A G 7: 30,356,675 (GRCm39) L477P probably damaging Het
Hectd4 A T 5: 121,491,944 (GRCm39) E3761V possibly damaging Het
Ift172 T C 5: 31,421,840 (GRCm39) I930V probably benign Het
Itprid1 T A 6: 55,945,631 (GRCm39) V784D probably benign Het
Izumo2 A G 7: 44,358,560 (GRCm39) probably benign Het
Map4k4 A G 1: 40,053,257 (GRCm39) probably benign Het
Morc1 A G 16: 48,436,123 (GRCm39) S753G probably damaging Het
Mpzl2 C T 9: 44,955,590 (GRCm39) T167I probably damaging Het
Mta2 T A 19: 8,926,532 (GRCm39) I491N probably damaging Het
Myo18b A T 5: 113,025,951 (GRCm39) I33N unknown Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Or10ak13 T C 4: 118,639,531 (GRCm39) M84V probably damaging Het
Or4f58 A T 2: 111,851,458 (GRCm39) V247E probably damaging Het
Or5d47 T C 2: 87,804,068 (GRCm39) N314D probably benign Het
Or8d2b T C 9: 38,788,784 (GRCm39) L104S probably benign Het
Ralyl A T 3: 13,842,094 (GRCm39) M77L probably benign Het
Rap1gap T A 4: 137,454,364 (GRCm39) V649E probably benign Het
Rnf40 C A 7: 127,195,744 (GRCm39) Q663K probably damaging Het
Slc22a18 T C 7: 143,052,837 (GRCm39) L354P probably damaging Het
Slc9a8 T C 2: 167,309,597 (GRCm39) probably benign Het
Surf4 C T 2: 26,815,619 (GRCm39) probably null Het
T A T 17: 8,654,069 (GRCm39) N85Y probably damaging Het
Tanc1 A G 2: 59,630,216 (GRCm39) E732G probably damaging Het
Tas2r138 A G 6: 40,589,649 (GRCm39) V199A possibly damaging Het
Trim43b T C 9: 88,967,541 (GRCm39) Y365C possibly damaging Het
Ubd T C 17: 37,506,573 (GRCm39) L153P probably damaging Het
Xpnpep2 A C X: 47,215,786 (GRCm39) M513L probably benign Het
Zar1l C T 5: 150,441,210 (GRCm39) G139R probably damaging Het
Zc3hav1 T G 6: 38,309,926 (GRCm39) T299P probably damaging Het
Zfp236 C A 18: 82,676,120 (GRCm39) probably benign Het
Other mutations in Ar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Ar APN X 97,295,453 (GRCm39) splice site probably benign
IGL02178:Ar APN X 97,349,044 (GRCm39) missense probably damaging 1.00
R0661:Ar UTSW X 97,194,171 (GRCm39) missense probably damaging 1.00
R2224:Ar UTSW X 97,194,937 (GRCm39) missense probably benign 0.19
R2226:Ar UTSW X 97,194,937 (GRCm39) missense probably benign 0.19
R2227:Ar UTSW X 97,194,937 (GRCm39) missense probably benign 0.19
Z1176:Ar UTSW X 97,194,615 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16