Incidental Mutation 'R7824:Srd5a3'
ID 602058
Institutional Source Beutler Lab
Gene Symbol Srd5a3
Ensembl Gene ENSMUSG00000029233
Gene Name steroid 5 alpha-reductase 3
Synonyms Srd5a2l, 1110025P14Rik, D730040M03Rik
MMRRC Submission 045878-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7824 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 76288118-76303351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76302618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 328 (F328I)
Ref Sequence ENSEMBL: ENSMUSP00000031143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031143] [ENSMUST00000113506] [ENSMUST00000113507] [ENSMUST00000127278]
AlphaFold Q9WUP4
Predicted Effect probably damaging
Transcript: ENSMUST00000031143
AA Change: F328I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: F328I

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 damaging
Transcript: ENSMUST00000113506
AA Change: F204I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
AA Change: F204I

transmembrane domain 12 29 N/A INTRINSIC
Pfam:Steroid_dh 44 206 2.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113507
AA Change: F204I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
AA Change: F204I

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

transmembrane domain 12 29 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,273,275 (GRCm39) R396G probably damaging Het
Arhgap40 A T 2: 158,376,666 (GRCm39) R267S probably damaging Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Bub1b T G 2: 118,457,448 (GRCm39) probably null Het
Capn7 A G 14: 31,074,367 (GRCm39) T257A probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Cldn6 T A 17: 23,900,581 (GRCm39) C182S probably damaging Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Ddx11 T C 17: 66,437,543 (GRCm39) probably null Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Farsb T C 1: 78,445,936 (GRCm39) N148D probably benign Het
Fmnl2 C T 2: 52,963,692 (GRCm39) L275F unknown Het
Gfpt2 T G 11: 49,715,268 (GRCm39) I421R probably damaging Het
Gm8297 A G 14: 16,167,939 (GRCm39) N193S possibly damaging Het
Hic1 C T 11: 75,057,042 (GRCm39) V616M possibly damaging Het
Ica1l T G 1: 60,047,029 (GRCm39) M241L probably benign Het
Ighg3 A T 12: 113,323,426 (GRCm39) D283E Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Ism2 A C 12: 87,326,634 (GRCm39) V435G probably damaging Het
Klhdc2 A G 12: 69,354,002 (GRCm39) H271R probably damaging Het
Lama1 T A 17: 68,111,468 (GRCm39) S2240T Het
Lrp2 T A 2: 69,331,883 (GRCm39) E1624V possibly damaging Het
Map3k21 C G 8: 126,637,702 (GRCm39) P96R probably benign Het
Mfge8 G T 7: 78,795,135 (GRCm39) probably null Het
Mical2 T A 7: 112,006,844 (GRCm39) Y588N probably damaging Het
Mrps15 A T 4: 125,945,170 (GRCm39) N119I probably damaging Het
Mybpc2 G A 7: 44,154,284 (GRCm39) probably null Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Odf4 A T 11: 68,812,898 (GRCm39) S253R probably benign Het
Or6c5c A G 10: 129,298,665 (GRCm39) N40S probably damaging Het
Ovch2 A G 7: 107,388,295 (GRCm39) probably null Het
Pax8 A G 2: 24,325,913 (GRCm39) S324P possibly damaging Het
Plau A G 14: 20,892,393 (GRCm39) S393G probably benign Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Rapgefl1 A G 11: 98,741,980 (GRCm39) N648S probably damaging Het
Rin2 T A 2: 145,703,037 (GRCm39) S533T probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Sez6 T C 11: 77,865,375 (GRCm39) S671P probably damaging Het
Slc22a3 G T 17: 12,683,350 (GRCm39) A171E probably damaging Het
Son T C 16: 91,453,416 (GRCm39) L721S probably damaging Het
Spata31d1b A T 13: 59,865,047 (GRCm39) R732W possibly damaging Het
Speg T A 1: 75,360,661 (GRCm39) probably null Het
Tbc1d2 C T 4: 46,637,746 (GRCm39) probably null Het
Tfap2b G A 1: 19,304,531 (GRCm39) G447D probably damaging Het
Thoc3 A C 13: 54,611,591 (GRCm39) F232C probably damaging Het
Togaram2 T A 17: 72,011,746 (GRCm39) M476K probably benign Het
Tpgs2 G T 18: 25,262,922 (GRCm39) F232L probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Tube1 A G 10: 39,018,294 (GRCm39) I124V probably benign Het
Ubr5 A T 15: 37,991,566 (GRCm39) H1992Q probably damaging Het
Utrn G A 10: 12,362,354 (GRCm39) R2660C probably damaging Het
Vcan T C 13: 89,836,773 (GRCm39) T2924A probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Vwf A G 6: 125,635,778 (GRCm39) K270E Het
Zfp874b A G 13: 67,622,093 (GRCm39) F402L 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
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
R8966:Srd5a3 UTSW 5 76,301,437 (GRCm39) missense probably benign 0.22
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

Sequencing Primer
Posted On 2019-12-03