Incidental Mutation 'R6012:Hsd3b2'
ID 479796
Institutional Source Beutler Lab
Gene Symbol Hsd3b2
Ensembl Gene ENSMUSG00000063730
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Synonyms
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6012 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 98618423-98631859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98619333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 204 (M204K)
Ref Sequence ENSEMBL: ENSMUSP00000136533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]
AlphaFold P26149
Predicted Effect probably benign
Transcript: ENSMUST00000107021
AA Change: M204K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: M204K

DomainStartEndE-ValueType
Pfam:KR 5 130 3.9e-7 PFAM
Pfam:adh_short 5 133 5.6e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.1e-13 PFAM
Pfam:NmrA 6 139 7.7e-8 PFAM
Pfam:NAD_binding_10 6 207 1.4e-9 PFAM
Pfam:Epimerase 6 254 2.5e-26 PFAM
Pfam:3Beta_HSD 7 288 1.2e-112 PFAM
Pfam:NAD_binding_4 8 221 1.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107022
AA Change: M204K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: M204K

DomainStartEndE-ValueType
Pfam:KR 5 130 3.9e-7 PFAM
Pfam:adh_short 5 133 5.6e-8 PFAM
Pfam:Polysacc_synt_2 6 135 2.1e-13 PFAM
Pfam:NmrA 6 139 7.7e-8 PFAM
Pfam:NAD_binding_10 6 207 1.4e-9 PFAM
Pfam:Epimerase 6 254 2.5e-26 PFAM
Pfam:3Beta_HSD 7 288 1.2e-112 PFAM
Pfam:NAD_binding_4 8 221 1.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177651
AA Change: M204K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: M204K

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 6 136 1.2e-13 PFAM
Pfam:NmrA 6 140 1.7e-7 PFAM
Pfam:Epimerase 6 249 2.1e-25 PFAM
Pfam:GDP_Man_Dehyd 7 187 2.7e-13 PFAM
Pfam:3Beta_HSD 7 288 8.2e-114 PFAM
Pfam:NAD_binding_4 8 223 1.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196741
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Adrm1b C A 3: 92,336,791 (GRCm39) probably null Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Ghr T C 15: 3,370,409 (GRCm39) D152G probably damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hebp1 T A 6: 135,145,055 (GRCm39) E14V probably damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Kcnc3 A G 7: 44,248,296 (GRCm39) D757G probably benign Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Mrps28 A G 3: 8,965,044 (GRCm39) probably null Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Pcdh12 A G 18: 38,416,805 (GRCm39) S107P probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging Het
Other mutations in Hsd3b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Hsd3b2 APN 3 98,618,859 (GRCm39) missense possibly damaging 0.47
IGL01102:Hsd3b2 APN 3 98,618,995 (GRCm39) missense probably damaging 0.97
IGL01733:Hsd3b2 APN 3 98,623,801 (GRCm39) missense probably damaging 1.00
IGL02202:Hsd3b2 APN 3 98,619,183 (GRCm39) missense possibly damaging 0.85
IGL02851:Hsd3b2 APN 3 98,623,740 (GRCm39) missense possibly damaging 0.84
R1737:Hsd3b2 UTSW 3 98,618,862 (GRCm39) missense probably damaging 1.00
R1800:Hsd3b2 UTSW 3 98,619,553 (GRCm39) missense probably damaging 1.00
R1917:Hsd3b2 UTSW 3 98,619,342 (GRCm39) missense probably benign
R4797:Hsd3b2 UTSW 3 98,618,979 (GRCm39) missense probably damaging 1.00
R5354:Hsd3b2 UTSW 3 98,619,631 (GRCm39) missense probably benign 0.39
R5412:Hsd3b2 UTSW 3 98,619,208 (GRCm39) missense possibly damaging 0.88
R5940:Hsd3b2 UTSW 3 98,619,287 (GRCm39) missense probably benign 0.02
R5954:Hsd3b2 UTSW 3 98,618,875 (GRCm39) missense probably benign 0.06
R6083:Hsd3b2 UTSW 3 98,619,372 (GRCm39) missense possibly damaging 0.94
R6675:Hsd3b2 UTSW 3 98,620,788 (GRCm39) missense probably benign 0.02
R7436:Hsd3b2 UTSW 3 98,619,112 (GRCm39) missense probably benign 0.00
R8192:Hsd3b2 UTSW 3 98,620,908 (GRCm39) missense probably benign 0.00
R9380:Hsd3b2 UTSW 3 98,619,453 (GRCm39) missense probably damaging 0.99
R9445:Hsd3b2 UTSW 3 98,619,051 (GRCm39) missense possibly damaging 0.95
X0054:Hsd3b2 UTSW 3 98,620,816 (GRCm39) missense probably damaging 1.00
Z1176:Hsd3b2 UTSW 3 98,619,538 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCAAAGCTTTGGTGAGGGG -3'
(R):5'- GGCCCAACTCTTACAAGGAG -3'

Sequencing Primer
(F):5'- GTGTCATCTGAGATGTAGTAGAACTC -3'
(R):5'- CAAGGAGATTGTCTTGAATGGCC -3'
Posted On 2017-06-26