Incidental Mutation 'R6536:Hsd17b2'
ID 520415
Institutional Source Beutler Lab
Gene Symbol Hsd17b2
Ensembl Gene ENSMUSG00000031844
Gene Name hydroxysteroid (17-beta) dehydrogenase 2
Synonyms 17 HSD type 2
MMRRC Submission 044662-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6536 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 118428643-118485766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118428921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 63 (V63M)
Ref Sequence ENSEMBL: ENSMUSP00000034304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034304]
AlphaFold P51658
Predicted Effect possibly damaging
Transcript: ENSMUST00000034304
AA Change: V63M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: V63M

DomainStartEndE-ValueType
transmembrane domain 10 27 N/A INTRINSIC
transmembrane domain 40 62 N/A INTRINSIC
Pfam:adh_short 84 279 1.3e-48 PFAM
Pfam:KR 85 263 3.6e-7 PFAM
Pfam:DUF1776 85 361 3.2e-13 PFAM
Pfam:adh_short_C2 89 288 1.5e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000212052
AA Change: V32M
Meta Mutation Damage Score 0.1204 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (36/36)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G T 11: 48,910,550 (GRCm39) H628N probably benign Het
Abcb1a T A 5: 8,769,030 (GRCm39) F751I probably benign Het
Adamts13 G A 2: 26,865,762 (GRCm39) V106M probably damaging Het
Add1 C A 5: 34,758,780 (GRCm39) N31K possibly damaging Het
Adgrf5 G T 17: 43,733,552 (GRCm39) probably benign Het
Akap11 T G 14: 78,748,754 (GRCm39) D1211A possibly damaging Het
Atp5f1c G A 2: 10,085,127 (GRCm39) probably benign Het
Cd320 T C 17: 34,066,477 (GRCm39) S72P probably benign Het
Clca4b C A 3: 144,622,490 (GRCm39) W525L possibly damaging Het
Cripto A T 9: 110,773,257 (GRCm39) probably null Het
Csmd3 G A 15: 47,701,863 (GRCm39) T1740I probably damaging Het
Dnah7c T G 1: 46,697,450 (GRCm39) S2122A probably benign Het
Enpp2 T C 15: 54,726,027 (GRCm39) N583S probably damaging Het
Fcsk A G 8: 111,610,511 (GRCm39) V964A possibly damaging Het
Gpd2 A T 2: 57,235,367 (GRCm39) I366F probably benign Het
Hsdl2 A T 4: 59,610,508 (GRCm39) probably null Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Ifi44 A G 3: 151,438,126 (GRCm39) V387A probably benign Het
Kcnc4 T C 3: 107,355,512 (GRCm39) D312G possibly damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Klra6 C T 6: 130,000,682 (GRCm39) V41I probably benign Het
Lrp1 A G 10: 127,393,937 (GRCm39) probably null Het
Mpdz T C 4: 81,301,654 (GRCm39) E257G probably damaging Het
Or10v1 T C 19: 11,873,760 (GRCm39) V125A probably benign Het
Or4f14 T C 2: 111,743,119 (GRCm39) D52G possibly damaging Het
Papln A G 12: 83,828,661 (GRCm39) Y789C probably damaging Het
Pcdh15 T C 10: 74,467,221 (GRCm39) L1680P probably damaging Het
Pcdhac1 A G 18: 37,223,367 (GRCm39) N60S probably benign Het
Polr3g T C 13: 81,826,335 (GRCm39) N162S unknown Het
Pou3f3 A G 1: 42,737,374 (GRCm39) I357V probably damaging Het
Sycp2 A G 2: 177,993,441 (GRCm39) S1235P probably damaging Het
Tns3 A T 11: 8,384,531 (GRCm39) V1429E probably damaging Het
Trim67 T C 8: 125,521,081 (GRCm39) S148P possibly damaging Het
Usp49 A T 17: 47,990,617 (GRCm39) I348F probably damaging Het
Wac A T 18: 7,905,189 (GRCm39) probably null Het
Zfp775 A G 6: 48,596,543 (GRCm39) K139R probably damaging Het
Other mutations in Hsd17b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Hsd17b2 APN 8 118,485,410 (GRCm39) missense probably damaging 0.98
IGL00907:Hsd17b2 APN 8 118,461,433 (GRCm39) missense probably benign 0.00
R0664:Hsd17b2 UTSW 8 118,485,440 (GRCm39) missense possibly damaging 0.67
R1506:Hsd17b2 UTSW 8 118,429,004 (GRCm39) critical splice donor site probably null
R1627:Hsd17b2 UTSW 8 118,428,909 (GRCm39) missense possibly damaging 0.53
R1822:Hsd17b2 UTSW 8 118,485,488 (GRCm39) missense possibly damaging 0.47
R1930:Hsd17b2 UTSW 8 118,485,643 (GRCm39) missense possibly damaging 0.56
R2055:Hsd17b2 UTSW 8 118,428,913 (GRCm39) missense possibly damaging 0.96
R3159:Hsd17b2 UTSW 8 118,485,491 (GRCm39) missense probably damaging 1.00
R8074:Hsd17b2 UTSW 8 118,485,440 (GRCm39) missense possibly damaging 0.67
R8310:Hsd17b2 UTSW 8 118,469,155 (GRCm39) missense probably damaging 0.99
R8875:Hsd17b2 UTSW 8 118,469,101 (GRCm39) missense possibly damaging 0.91
R9713:Hsd17b2 UTSW 8 118,485,342 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGGAGAATGAGCCCGTTTGC -3'
(R):5'- ATGTGCTGCCTGTCATTCAC -3'

Sequencing Primer
(F):5'- GAATGAGCCCGTTTGCCTCTG -3'
(R):5'- GTGCTGCCTGTCATTCACTCTAAG -3'
Posted On 2018-06-06