Incidental Mutation 'R0661:Ar'
ID 61868
Institutional Source Beutler Lab
Gene Symbol Ar
Ensembl Gene ENSMUSG00000046532
Gene Name androgen receptor
Synonyms
MMRRC Submission 038846-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0661 (G1)
Quality Score 119
Status Not validated
Chromosome X
Chromosomal Location 97192375-97366821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97194171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 262 (Y262N)
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: Y262N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052648
Gene: ENSMUSG00000046532
AA Change: Y262N

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Brip1 A T 11: 86,001,189 (GRCm39) I749N possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Heyl G T 4: 123,139,824 (GRCm39) V128F probably damaging Het
Hoxd12 A G 2: 74,506,236 (GRCm39) E216G probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Ufsp2 T A 8: 46,432,270 (GRCm39) M1K probably null Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Yme1l1 T A 2: 23,081,054 (GRCm39) M442K probably damaging Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging 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
IGL02626:Ar APN X 97,358,492 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- AGCTGCTCCGCCGACATTAAAGAC -3'
(R):5'- AAGTGTCCCAGAGCTACCTGCTTC -3'

Sequencing Primer
(F):5'- cagcagcagcaacaacag -3'
(R):5'- TTCACTGCTGCCAGAGCAC -3'
Posted On 2013-07-30