|Institutional Source||Beutler Lab|
|Gene Name||steroid 5 alpha-reductase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.227)|
|Stock #||R2269 (G1)|
|Chromosomal Location||74017706-74047916 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74024490 bp|
|Amino Acid Change||Arginine to Glycine at position 171 (R171G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048862 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043458]|
|Predicted Effect||probably damaging
AA Change: R171G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R171G
|Meta Mutation Damage Score||0.4563|
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutant males are fertile, but have small prostates and seminal vesicles, elevated testosterone in reproductive tissue and decreased androgen-dependent gene expression. Mutant females exhibit no detectable abnormality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Srd5a2||
(F):5'- GTCTGTAACAAGGCTAACCCTGA -3'
(R):5'- TGAGAATCCGGCCCCAAAAC -3'
(F):5'- ACCATGCCTGGAGTTAACTG -3'
(R):5'- GAGAATCCGGCCCCAAAACTAAAC -3'