Incidental Mutation 'R7427:Srd5a3'
ID576166
Institutional Source Beutler Lab
Gene Symbol Srd5a3
Ensembl Gene ENSMUSG00000029233
Gene Namesteroid 5 alpha-reductase 3
SynonymsD730040M03Rik, 1110025P14Rik, Srd5a2l
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7427 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location76140271-76155504 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76154643 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 285 (H285R)
Ref Sequence ENSEMBL: ENSMUSP00000031143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031143] [ENSMUST00000113506] [ENSMUST00000113507] [ENSMUST00000127278] [ENSMUST00000152642]
Predicted Effect probably benign
Transcript: ENSMUST00000031143
AA Change: H285R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: H285R

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: H161R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
AA Change: H161R

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: H161R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
AA Change: H161R

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik C T 2: 23,256,994 R337C probably benign Het
Adck5 T A 15: 76,594,385 C318S possibly damaging Het
Aspm T A 1: 139,457,616 C333S probably benign Het
B3gnt4 A G 5: 123,510,731 N53S probably damaging Het
Bpifb5 G A 2: 154,225,122 M98I probably benign Het
Cacna2d3 A G 14: 29,064,275 M585T probably damaging Het
Cbarp T C 10: 80,131,304 D701G probably damaging Het
Cntrl T A 2: 35,170,534 W1913R probably benign Het
Cry2 T C 2: 92,413,047 D483G possibly damaging Het
Csmd1 A G 8: 16,023,850 F2044L possibly damaging Het
Ctgf T G 10: 24,597,499 M312R probably damaging Het
Cxcl16 A G 11: 70,458,804 V78A possibly damaging Het
Cxcr6 A T 9: 123,810,240 Y109F probably benign Het
Cyb5b A G 8: 107,170,416 D106G probably benign Het
D630036H23Rik T C 12: 36,381,538 R154G unknown Het
Dnah9 T C 11: 65,955,219 T2998A probably benign Het
Focad T C 4: 88,368,751 S1254P unknown Het
Gm21886 A T 18: 80,089,652 L97Q probably damaging Het
Gm6614 T G 6: 142,003,508 probably null Het
Gpr158 A C 2: 21,827,318 L1076F probably benign Het
Hivep2 T C 10: 14,133,741 M1714T possibly damaging Het
Hlcs A G 16: 94,267,899 V154A probably benign Het
Hpdl A T 4: 116,820,865 L133Q probably damaging Het
Il1rn C A 2: 24,349,542 T150K probably benign Het
Il6st A G 13: 112,488,560 I237V probably benign Het
Inpp5f A G 7: 128,679,805 D510G probably damaging Het
Ism2 G T 12: 87,286,995 T92K possibly damaging Het
Kif13b T C 14: 64,788,460 I1422T probably benign Het
Kit G A 5: 75,645,847 V671I possibly damaging Het
Klhdc8a A T 1: 132,302,967 N190I probably damaging Het
Lad1 C T 1: 135,825,838 T41I probably damaging Het
Lrrc7 G T 3: 158,198,141 T294K probably benign Het
Megf8 C T 7: 25,338,371 R771C probably benign Het
Micu3 A C 8: 40,378,914 N440T possibly damaging Het
Mnx1 T C 5: 29,474,213 N291D unknown Het
Mthfr A G 4: 148,051,603 M378V probably benign Het
Mup2 A T 4: 60,138,454 D79E probably benign Het
Myzap T C 9: 71,505,183 T451A probably benign Het
Nlrp9c T C 7: 26,371,435 D907G probably benign Het
Nr1h4 T C 10: 89,498,405 E41G probably benign Het
Nup98 A T 7: 102,135,001 probably null Het
Nxpe5 A C 5: 138,239,760 Y194S probably damaging Het
Olfr1024 T A 2: 85,904,131 R308* probably null Het
Olfr1032 A T 2: 86,008,219 I148L probably benign Het
Olfr105-ps T C 17: 37,383,299 V244A probably damaging Het
Olfr1121 G T 2: 87,371,690 V53L probably benign Het
Olfr332 A G 11: 58,489,780 I325T probably benign Het
Olfr466 A G 13: 65,153,052 Y276C probably damaging Het
Olfr554 A G 7: 102,640,326 I27V probably benign Het
Omd A T 13: 49,592,269 E385V possibly damaging Het
Pcdh9 G T 14: 93,887,111 T541K probably damaging Het
Pdia6 T C 12: 17,278,545 V167A probably damaging Het
Phf7 C T 14: 31,240,413 R145Q possibly damaging Het
Pitx3 T C 19: 46,137,424 D20G possibly damaging Het
Plxnb1 T C 9: 109,108,168 V1139A probably benign Het
Pon2 A T 6: 5,268,995 N226K probably damaging Het
Ppp1r10 T A 17: 35,930,133 H642Q possibly damaging Het
Prom2 A G 2: 127,539,811 L195P probably damaging Het
Psg23 C T 7: 18,611,983 probably null Het
Rfx4 C A 10: 84,896,012 Q618K probably benign Het
Rhobtb1 T A 10: 69,248,824 I15N probably damaging Het
Rhot2 A T 17: 25,841,609 V233E probably damaging Het
Ripply2 T C 9: 87,019,756 S112P possibly damaging Het
Slc12a1 C A 2: 125,214,132 T861N probably benign Het
Slc35f1 T A 10: 53,089,414 S308R probably damaging Het
Slc35f4 T A 14: 49,298,898 I427F probably damaging Het
Sned1 G A 1: 93,289,358 V1322I probably benign Het
Sprr2f G A 3: 92,365,944 V17M unknown Het
Stab1 T C 14: 31,159,259 T605A probably benign Het
Syne1 T C 10: 5,273,718 Q3054R probably damaging Het
Tas1r1 T C 4: 152,038,308 T27A probably benign Het
Tmem150b A T 7: 4,716,210 V237E probably benign Het
Trpv6 C T 6: 41,625,153 M407I probably benign Het
Ttn T G 2: 76,720,354 D31528A probably damaging Het
Uroc1 A T 6: 90,346,362 D354V possibly damaging Het
Vmn2r69 T C 7: 85,411,259 I372M probably benign Het
Vmn2r93 A T 17: 18,326,410 H848L probably benign Het
Zfp971 T A 2: 178,033,174 C189S probably damaging Het
Other mutations in Srd5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Srd5a3 APN 5 76149746 splice site probably benign
IGL02172:Srd5a3 APN 5 76147709 missense probably benign 0.05
R1055:Srd5a3 UTSW 5 76153638 missense probably benign 0.30
R1777:Srd5a3 UTSW 5 76149783 missense probably damaging 0.96
R1914:Srd5a3 UTSW 5 76147705 missense probably benign
R1915:Srd5a3 UTSW 5 76147705 missense probably benign
R4357:Srd5a3 UTSW 5 76147700 missense probably damaging 0.99
R4359:Srd5a3 UTSW 5 76147700 missense probably damaging 0.99
R4537:Srd5a3 UTSW 5 76149951 critical splice donor site probably null
R5714:Srd5a3 UTSW 5 76153566 missense probably benign 0.06
R6762:Srd5a3 UTSW 5 76153551 missense probably benign
R7009:Srd5a3 UTSW 5 76149866 missense probably benign 0.00
R7130:Srd5a3 UTSW 5 76149837 missense possibly damaging 0.87
R7185:Srd5a3 UTSW 5 76153572 missense probably benign 0.09
R7778:Srd5a3 UTSW 5 76154771 missense probably damaging 0.99
R7824:Srd5a3 UTSW 5 76154771 missense probably damaging 0.99
R7861:Srd5a3 UTSW 5 76147819 nonsense probably null
R7869:Srd5a3 UTSW 5 76147736 missense probably damaging 1.00
Z1088:Srd5a3 UTSW 5 76149821 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CTGTCAGCGATCTTAGAAGTGG -3'
(R):5'- TCCCGCAGAAAGTGTACTTTG -3'

Sequencing Primer
(F):5'- GAGCGGTAACAAGTGATCGCC -3'
(R):5'- AATGGAATCTGTCACCTGGC -3'
Posted On2019-10-07