|Institutional Source||Beutler Lab|
|Gene Name||steroid 5 alpha-reductase 2|
|Is this an essential gene?||Probably non essential (E-score: 0.230)|
|Stock #||R5698 (G1)|
|Chromosomal Location||74017706-74047916 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 74027019 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 135 (E135G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048862 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043458]|
|Predicted Effect||possibly damaging
AA Change: E135G
PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: E135G
|Coding Region Coverage||
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'- CTTACAGGGAAAGACCAGAGTC -3'
(R):5'- AATGGGAGAGTGTTCGCAAC -3'
(F):5'- ACCAGAGTCGGGTTATGAGTG -3'
(R):5'- GTTCGCAACACTTAGTATCGTTATC -3'