Incidental Mutation 'R2227:Ar'
ID 239821
Institutional Source Beutler Lab
Gene Symbol Ar
Ensembl Gene ENSMUSG00000046532
Gene Name androgen receptor
Synonyms
MMRRC Submission 040228-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2227 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 97192375-97366821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97194937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 517 (M517K)
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 benign
Transcript: ENSMUST00000052837
AA Change: M517K

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052648
Gene: ENSMUSG00000046532
AA Change: M517K

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik T A 14: 60,325,668 (GRCm39) probably benign Het
Abtb1 A C 6: 88,813,349 (GRCm39) L439R probably damaging Het
Adcy10 A G 1: 165,345,829 (GRCm39) T293A probably damaging Het
Agl A T 3: 116,581,961 (GRCm39) V306D possibly damaging Het
Alpk2 T A 18: 65,511,147 (GRCm39) T17S probably damaging Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
BB014433 C A 8: 15,091,717 (GRCm39) A379S probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Ccl2 G T 11: 81,927,427 (GRCm39) probably null Het
Cct2 T C 10: 116,888,922 (GRCm39) R526G probably null Het
Cep55 T C 19: 38,051,082 (GRCm39) M164T probably benign Het
Clec2d G A 6: 129,161,214 (GRCm39) A104T probably benign Het
Cyp3a11 A G 5: 145,805,357 (GRCm39) L220P possibly damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Exoc2 T A 13: 31,048,867 (GRCm39) I729L probably benign Het
Fbxl20 T C 11: 97,981,675 (GRCm39) I338V probably benign Het
Gucy2c G A 6: 136,679,758 (GRCm39) T943I probably damaging Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Il17rb A T 14: 29,728,038 (GRCm39) S56R probably benign Het
Knl1 A G 2: 118,902,481 (GRCm39) D1394G probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt6b A G 15: 101,587,557 (GRCm39) V179A probably damaging Het
Lpar5 A T 6: 125,058,098 (GRCm39) probably null Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Myl1 T C 1: 66,983,974 (GRCm39) K31E possibly damaging Het
Myt1l T A 12: 29,876,969 (GRCm39) L207I unknown Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 (GRCm39) R1081L probably benign Het
Rc3h1 T C 1: 160,791,112 (GRCm39) I932T probably benign Het
Rubcnl G A 14: 75,279,832 (GRCm39) R405Q probably benign Het
Saxo5 A G 8: 3,529,249 (GRCm39) T245A probably benign Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slco1a8 T G 6: 141,938,087 (GRCm39) E277D possibly damaging Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Tnn A T 1: 159,975,035 (GRCm39) C131S probably damaging Het
Tnnt2 A G 1: 135,771,529 (GRCm39) probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn1r86 T C 7: 12,836,847 (GRCm39) I10V probably benign Het
Xpot T C 10: 121,458,765 (GRCm39) R20G probably damaging Het
Zfp735 T A 11: 73,602,222 (GRCm39) L389I possibly damaging Het
Zfp735 T G 11: 73,602,223 (GRCm39) L389* probably null 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
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
Z1176:Ar UTSW X 97,194,615 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCAATTATATGGGCCAGGAG -3'
(R):5'- TTTCACAAGATGACAGTCCCC -3'

Sequencing Primer
(F):5'- AGCAGCCCAAGCGATGC -3'
(R):5'- CACGAGGGCTCCAGATGTAG -3'
Posted On 2014-10-15