|Institutional Source||Beutler Lab|
|Gene Name||androgen receptor|
|Is this an essential gene?||Not available|
|Stock #||R2224 (G1)|
|Chromosomal Location||98148769-98323215 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 98151331 bp|
|Amino Acid Change||Methionine to Lysine at position 517 (M517K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052648 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052837]|
|Predicted Effect||probably benign
AA Change: M517K
PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: M517K
|Coding Region Coverage||
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||
|Other mutations in Ar||
(F):5'- CAGCTGAAGAAGGCCAATTATATGG -3'
(R):5'- AAGATGACAGTCCCCACGAG -3'
(F):5'- GCCAATTATATGGGCCAGGAG -3'
(R):5'- CACGAGGGCTCCAGATGTAG -3'