Incidental Mutation 'R8966:Srd5a3'
ID 682725
Institutional Source Beutler Lab
Gene Symbol Srd5a3
Ensembl Gene ENSMUSG00000029233
Gene Name steroid 5 alpha-reductase 3
Synonyms Srd5a2l, 1110025P14Rik, D730040M03Rik
MMRRC Submission 068800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 76288118-76303351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76301437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 222 (F222Y)
Ref Sequence ENSEMBL: ENSMUSP00000031143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031143] [ENSMUST00000113506] [ENSMUST00000113507] [ENSMUST00000127278] [ENSMUST00000152642]
AlphaFold Q9WUP4
Predicted Effect probably benign
Transcript: ENSMUST00000031143
AA Change: F222Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: F222Y

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 132 150 N/A INTRINSIC
Pfam:Steroid_dh 168 330 4.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113506
AA Change: F98Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
AA Change: F98Y

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Steroid_dh 44 206 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113507
AA Change: F98Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
AA Change: F98Y

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Steroid_dh 44 206 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127278
SMART Domains Protein: ENSMUSP00000116801
Gene: ENSMUSG00000029233

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152642
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A T 1: 16,151,062 (GRCm39) M40K possibly damaging Het
Aak1 A C 6: 86,964,234 (GRCm39) N945T unknown Het
Abca13 C G 11: 9,578,588 (GRCm39) D4863E probably damaging Het
Abca8a C T 11: 109,962,245 (GRCm39) probably null Het
Alppl2 T A 1: 87,015,210 (GRCm39) N413I probably damaging Het
Asb13 T A 13: 3,692,093 (GRCm39) H24Q probably damaging Het
Atg9b A G 5: 24,596,200 (GRCm39) probably null Het
Atp2b4 T A 1: 133,666,317 (GRCm39) H245L probably benign Het
B3galt2 A C 1: 143,521,883 (GRCm39) R6S probably damaging Het
B4galnt2 T C 11: 95,781,811 (GRCm39) H118R probably damaging Het
Ccdc121rt2 T A 5: 112,598,103 (GRCm39) W217R probably damaging Het
Clca3b A G 3: 144,544,872 (GRCm39) S372P probably benign Het
Cnn1 T C 9: 22,010,716 (GRCm39) probably null Het
Cpne6 C T 14: 55,750,060 (GRCm39) R64C probably damaging Het
Csmd1 T A 8: 16,250,059 (GRCm39) H973L probably damaging Het
Dennd5b A T 6: 148,901,474 (GRCm39) H1137Q probably damaging Het
Dnah3 G T 7: 119,549,881 (GRCm39) Y500* probably null Het
Dnajc19 A G 3: 34,132,893 (GRCm39) V104A unknown Het
Eea1 G A 10: 95,832,901 (GRCm39) E249K probably damaging Het
Eif1ad19 G T 12: 87,740,273 (GRCm39) Y95* probably null Het
Fancc T C 13: 63,495,285 (GRCm39) Q213R probably benign Het
Gabrr1 A G 4: 33,152,411 (GRCm39) probably null Het
Hgd T A 16: 37,431,532 (GRCm39) V113E probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Lrrcc1 T C 3: 14,602,359 (GRCm39) C151R probably damaging Het
Marveld3 T C 8: 110,675,019 (GRCm39) S266G possibly damaging Het
Mdn1 C T 4: 32,672,837 (GRCm39) Q486* probably null Het
Mstn G T 1: 53,105,641 (GRCm39) V328L probably benign Het
Ndc80 C A 17: 71,815,573 (GRCm39) G404V probably benign Het
Nelfb T C 2: 25,090,751 (GRCm39) R557G probably damaging Het
Nol10 T G 12: 17,419,507 (GRCm39) V266G possibly damaging Het
Optc C A 1: 133,828,872 (GRCm39) A245S probably damaging Het
Or51a43 A G 7: 103,718,139 (GRCm39) L33P probably damaging Het
Or52ae7 A T 7: 103,119,524 (GRCm39) I93F probably benign Het
Or5b111 A T 19: 13,291,196 (GRCm39) F151Y probably damaging Het
Or6c75 A T 10: 129,336,951 (GRCm39) Y58F probably damaging Het
Or8i2 T A 2: 86,852,879 (GRCm39) E3V possibly damaging Het
Pcdhb11 A G 18: 37,556,037 (GRCm39) T456A possibly damaging Het
Pkd1 A G 17: 24,794,751 (GRCm39) E2146G possibly damaging Het
Pkdrej A T 15: 85,702,012 (GRCm39) I1308N probably damaging Het
Plekha3 A T 2: 76,523,006 (GRCm39) I225F probably benign Het
Ppp1r3c A T 19: 36,711,736 (GRCm39) D11E probably benign Het
Pprc1 A G 19: 46,054,118 (GRCm39) D1155G unknown Het
Prcc T C 3: 87,792,232 (GRCm39) K140E probably damaging Het
Pth1r A T 9: 110,554,229 (GRCm39) V334D possibly damaging Het
Rab3d G A 9: 21,826,060 (GRCm39) T118M probably damaging Het
Ric8a A G 7: 140,438,379 (GRCm39) E206G probably benign Het
Rps17 C A 7: 80,994,660 (GRCm39) V34L probably benign Het
Serpinb13 T C 1: 106,928,165 (GRCm39) S262P probably damaging Het
Serpinb6b T A 13: 33,162,035 (GRCm39) L278Q probably damaging Het
Slc1a3 C T 15: 8,680,332 (GRCm39) probably null Het
Slc27a5 C A 7: 12,725,090 (GRCm39) R452S probably benign Het
Slc45a2 T A 15: 11,001,122 (GRCm39) W74R probably damaging Het
Slc4a2 A G 5: 24,635,092 (GRCm39) T175A probably benign Het
Sos1 C A 17: 80,705,879 (GRCm39) G1231C possibly damaging Het
Spata32 T C 11: 103,100,143 (GRCm39) T121A probably damaging Het
Stag3 T C 5: 138,289,666 (GRCm39) Y279H probably damaging Het
Stk31 T C 6: 49,423,134 (GRCm39) I795T possibly damaging Het
Syne2 T C 12: 76,146,197 (GRCm39) I1665T probably damaging Het
Tas2r118 A G 6: 23,970,020 (GRCm39) Y14H probably damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tnik T G 3: 28,587,044 (GRCm39) M105R unknown Het
Trrap A G 5: 144,740,162 (GRCm39) T1195A probably damaging Het
Usf1 T A 1: 171,245,101 (GRCm39) probably null Het
Usp53 G A 3: 122,754,981 (GRCm39) T158I probably damaging Het
Uty T C Y: 1,099,748 (GRCm39) E1149G possibly damaging Het
Vmn2r23 G A 6: 123,719,079 (GRCm39) V811M possibly damaging Het
Zfp663 T A 2: 165,194,958 (GRCm39) K420N probably damaging Het
Zfp703 T C 8: 27,468,302 (GRCm39) S91P possibly damaging Het
Zpld2 T C 4: 133,929,712 (GRCm39) T198A probably damaging Het
Zscan4-ps1 A C 7: 10,800,250 (GRCm39) I213S probably benign Het
Other mutations in Srd5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Srd5a3 APN 5 76,297,593 (GRCm39) splice site probably benign
IGL02172:Srd5a3 APN 5 76,295,556 (GRCm39) missense probably benign 0.05
R1055:Srd5a3 UTSW 5 76,301,485 (GRCm39) missense probably benign 0.30
R1777:Srd5a3 UTSW 5 76,297,630 (GRCm39) missense probably damaging 0.96
R1914:Srd5a3 UTSW 5 76,295,552 (GRCm39) missense probably benign
R1915:Srd5a3 UTSW 5 76,295,552 (GRCm39) missense probably benign
R4357:Srd5a3 UTSW 5 76,295,547 (GRCm39) missense probably damaging 0.99
R4359:Srd5a3 UTSW 5 76,295,547 (GRCm39) missense probably damaging 0.99
R4537:Srd5a3 UTSW 5 76,297,798 (GRCm39) critical splice donor site probably null
R5714:Srd5a3 UTSW 5 76,301,413 (GRCm39) missense probably benign 0.06
R6762:Srd5a3 UTSW 5 76,301,398 (GRCm39) missense probably benign
R7009:Srd5a3 UTSW 5 76,297,713 (GRCm39) missense probably benign 0.00
R7130:Srd5a3 UTSW 5 76,297,684 (GRCm39) missense possibly damaging 0.87
R7185:Srd5a3 UTSW 5 76,301,419 (GRCm39) missense probably benign 0.09
R7427:Srd5a3 UTSW 5 76,302,490 (GRCm39) missense probably benign 0.00
R7778:Srd5a3 UTSW 5 76,302,618 (GRCm39) missense probably damaging 0.99
R7824:Srd5a3 UTSW 5 76,302,618 (GRCm39) missense probably damaging 0.99
R7861:Srd5a3 UTSW 5 76,295,666 (GRCm39) nonsense probably null
R7869:Srd5a3 UTSW 5 76,295,583 (GRCm39) missense probably damaging 1.00
R8472:Srd5a3 UTSW 5 76,297,648 (GRCm39) missense possibly damaging 0.89
R8969:Srd5a3 UTSW 5 76,301,493 (GRCm39) missense probably benign 0.01
R9150:Srd5a3 UTSW 5 76,297,615 (GRCm39) missense probably damaging 1.00
R9516:Srd5a3 UTSW 5 76,297,794 (GRCm39) missense probably benign 0.07
Z1088:Srd5a3 UTSW 5 76,297,668 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AGACTGGGAAGCTGCTCTAG -3'
(R):5'- TGTTTGTCAAAAGCGGGTATC -3'

Sequencing Primer
(F):5'- TGCTCTAGCTGTCCGGAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2021-10-11