Incidental Mutation 'R2924:Srd5a1'
ID 255674
Institutional Source Beutler Lab
Gene Symbol Srd5a1
Ensembl Gene ENSMUSG00000021594
Gene Name steroid 5 alpha-reductase 1
Synonyms 4930435F02Rik, Srd5a-1, 0610031P22Rik
MMRRC Submission 040509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R2924 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 69721568-69759561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69734834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 191 (S191P)
Ref Sequence ENSEMBL: ENSMUSP00000089097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091514] [ENSMUST00000143716]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000091514
AA Change: S191P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594
AA Change: S191P

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
transmembrane domain 83 102 N/A INTRINSIC
Pfam:DUF1295 104 242 4.6e-13 PFAM
Pfam:Steroid_dh 106 255 2.9e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220731
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
PHENOTYPE: Female mice homozygous for a targeted mutation exhibit parturiton defects and deliver small litters. Male homozygous mice appear healthy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A G 3: 97,117,069 (GRCm39) S542P probably benign Het
Cass4 A G 2: 172,268,592 (GRCm39) R225G possibly damaging Het
Ddx50 A T 10: 62,463,373 (GRCm39) V440E probably damaging Het
Dmrtc2 G A 7: 24,571,941 (GRCm39) C12Y probably damaging Het
Dock6 A T 9: 21,720,926 (GRCm39) I1693N probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Gli2 C T 1: 118,764,089 (GRCm39) R1354H probably benign Het
Gm5478 A T 15: 101,552,229 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Il2rb T C 15: 78,376,049 (GRCm39) M1V probably null Het
Ints6l A G X: 55,550,196 (GRCm39) E483G probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mrgpra1 G A 7: 46,984,618 (GRCm39) probably null Het
Mtbp G A 15: 55,483,210 (GRCm39) R429Q probably benign Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or1e34 A G 11: 73,778,337 (GRCm39) I287T probably damaging Het
Oxr1 T C 15: 41,689,353 (GRCm39) Y526H probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Prex2 A G 1: 11,168,711 (GRCm39) T236A probably damaging Het
Rbbp5 G C 1: 132,420,401 (GRCm39) probably null Het
Slc24a2 A G 4: 86,929,961 (GRCm39) S512P probably benign Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tmem132e T C 11: 82,335,149 (GRCm39) S652P probably damaging Het
Uba6 A T 5: 86,307,130 (GRCm39) V102D probably damaging Het
Unc13a A G 8: 72,097,596 (GRCm39) V1158A possibly damaging Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Zc3hav1 T C 6: 38,331,045 (GRCm39) Y38C probably damaging Het
Zfp119a C A 17: 56,175,343 (GRCm39) D51Y possibly damaging Het
Other mutations in Srd5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Srd5a1 APN 13 69,759,181 (GRCm39) nonsense probably null
R1328:Srd5a1 UTSW 13 69,723,310 (GRCm39) missense probably damaging 1.00
R2979:Srd5a1 UTSW 13 69,748,418 (GRCm39) missense probably damaging 1.00
R6787:Srd5a1 UTSW 13 69,759,418 (GRCm39) unclassified probably benign
R7332:Srd5a1 UTSW 13 69,759,173 (GRCm39) missense probably benign 0.01
R7995:Srd5a1 UTSW 13 69,759,338 (GRCm39) missense probably damaging 0.97
R9019:Srd5a1 UTSW 13 69,748,413 (GRCm39) nonsense probably null
R9704:Srd5a1 UTSW 13 69,743,086 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGTGGGATTAGCAATTCGAG -3'
(R):5'- ATTTAACACCTGGGCCACC -3'

Sequencing Primer
(F):5'- TGTTACCACTCTGAAAGCGG -3'
(R):5'- GGGCCACCATCCCCCTC -3'
Posted On 2014-12-29