Incidental Mutation 'R2226:Ar'
ID 239766
Institutional Source Beutler Lab
Gene Symbol Ar
Ensembl Gene ENSMUSG00000046532
Gene Name androgen receptor
Synonyms
MMRRC Submission 040227-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2226 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,190,295 (GRCm39) V2E possibly damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Ascc3 A G 10: 50,630,148 (GRCm39) T1746A probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Atp1b3 A G 9: 96,225,329 (GRCm39) F113S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc150 A G 1: 54,404,084 (GRCm39) I943V probably null Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Efhb A T 17: 53,769,457 (GRCm39) probably null Het
Elfn2 A G 15: 78,558,443 (GRCm39) W35R probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Epha2 G A 4: 141,048,548 (GRCm39) R569H probably damaging Het
Gabrg2 A T 11: 41,862,735 (GRCm39) F116L probably damaging Het
Gm11555 T G 11: 99,540,585 (GRCm39) R141S unknown Het
Hectd3 T C 4: 116,852,886 (GRCm39) I96T possibly damaging Het
Hnrnpul2 T A 19: 8,802,349 (GRCm39) N405K probably damaging Het
Iigp1 A T 18: 60,522,960 (GRCm39) K26I possibly damaging Het
Kirrel2 T C 7: 30,153,579 (GRCm39) K260R probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt19 T C 11: 100,032,401 (GRCm39) E260G probably damaging Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mthfd2l G T 5: 91,096,693 (GRCm39) E105* probably null Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Ndufaf5 T C 2: 140,030,780 (GRCm39) V222A probably benign Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Nsun7 T A 5: 66,418,562 (GRCm39) Y97* probably null Het
Nxph3 T C 11: 95,404,990 (GRCm39) Y17C probably benign Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or4k1 A G 14: 50,378,076 (GRCm39) S7P probably damaging Het
Or51a5 A G 7: 102,771,115 (GRCm39) M292T probably benign Het
Or5aq1 A C 2: 86,966,590 (GRCm39) V25G possibly damaging Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
P2rx2 A G 5: 110,490,745 (GRCm39) F26S probably damaging Het
Pank1 A T 19: 34,804,763 (GRCm39) L131Q probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppwd1 A G 13: 104,353,753 (GRCm39) L335P probably damaging Het
Ptch1 A G 13: 63,661,485 (GRCm39) S1218P probably damaging Het
Ptpn4 C T 1: 119,610,515 (GRCm39) R664Q probably damaging Het
Semp2l1 A T 1: 32,584,934 (GRCm39) H325Q probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slc22a19 C T 19: 7,661,215 (GRCm39) V320M possibly damaging Het
Slc25a33 A T 4: 149,838,306 (GRCm39) I122N probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign 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
Ttc12 A G 9: 49,353,135 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably 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
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
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'- CCAATTATATGGGCCAGGAGG -3'
(R):5'- TTCACAAGATGACAGTCCCC -3'

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