Incidental Mutation 'R1627:Hsd17b2'
ID 172561
Institutional Source Beutler Lab
Gene Symbol Hsd17b2
Ensembl Gene ENSMUSG00000031844
Gene Name hydroxysteroid (17-beta) dehydrogenase 2
Synonyms 17 HSD type 2
MMRRC Submission 039664-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1627 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 118428643-118485766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118428909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 59 (F59I)
Ref Sequence ENSEMBL: ENSMUSP00000034304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034304]
AlphaFold P51658
Predicted Effect possibly damaging
Transcript: ENSMUST00000034304
AA Change: F59I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: F59I

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: F28I
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,083,880 (GRCm39) M630T probably benign Het
Anpep T C 7: 79,491,759 (GRCm39) I81V probably benign Het
Bub1 A G 2: 127,650,933 (GRCm39) S627P probably benign Het
C1s1 T A 6: 124,514,439 (GRCm39) N139I probably damaging Het
Car6 A T 4: 150,277,035 (GRCm39) V152D probably damaging Het
Cdh19 C A 1: 110,847,375 (GRCm39) M411I probably benign Het
Cep95 A G 11: 106,700,531 (GRCm39) E322G probably damaging Het
Chek1 C A 9: 36,625,737 (GRCm39) V303L probably benign Het
Dctn1 T A 6: 83,172,064 (GRCm39) I818N probably damaging Het
Dscaml1 T C 9: 45,664,445 (GRCm39) S2107P probably damaging Het
Dusp14 A G 11: 83,939,597 (GRCm39) I148T probably damaging Het
Eps15 A G 4: 109,227,754 (GRCm39) D645G probably damaging Het
Etl4 A G 2: 20,806,390 (GRCm39) N1153S possibly damaging Het
Fer1l6 A G 15: 58,513,728 (GRCm39) D1541G probably benign Het
Gm14496 A G 2: 181,640,571 (GRCm39) S513G probably damaging Het
H2-D1 G T 17: 35,482,471 (GRCm39) A64S possibly damaging Het
Itgb7 T G 15: 102,131,911 (GRCm39) Q224P probably damaging Het
Jak1 A G 4: 101,048,821 (GRCm39) probably null Het
Kdm1b G A 13: 47,217,707 (GRCm39) probably null Het
Lrp8 A G 4: 107,711,613 (GRCm39) I466V probably damaging Het
Mga A G 2: 119,795,043 (GRCm39) D2909G probably damaging Het
Nol8 T C 13: 49,814,980 (GRCm39) S345P probably benign Het
Nup210l T C 3: 90,051,476 (GRCm39) M540T probably benign Het
Obscn C T 11: 59,003,464 (GRCm39) R1370H probably benign Het
Or2ad1 A G 13: 21,327,125 (GRCm39) F34S probably damaging Het
Pbx3 A G 2: 34,065,965 (GRCm39) V375A probably benign Het
Ppp1r9a T C 6: 4,906,168 (GRCm39) V241A possibly damaging Het
Psmd6 C T 14: 14,112,539 (GRCm38) V354M probably damaging Het
Rab2a T C 4: 8,578,481 (GRCm39) F94L probably damaging Het
Rev1 T C 1: 38,094,571 (GRCm39) D949G probably damaging Het
Ric8a A G 7: 140,438,091 (GRCm39) D110G probably damaging Het
Rlf A T 4: 121,007,197 (GRCm39) D594E probably benign Het
Septin1 C A 7: 126,817,230 (GRCm39) probably null Het
Slco5a1 G C 1: 13,060,607 (GRCm39) P38R probably damaging Het
Snx33 C A 9: 56,833,241 (GRCm39) R276L probably damaging Het
Taf11 A T 17: 28,124,253 (GRCm39) D101E probably benign Het
Ttn A G 2: 76,764,564 (GRCm39) S3168P probably damaging Het
Uggt2 T C 14: 119,295,075 (GRCm39) E41G possibly damaging Het
Vmn2r80 A G 10: 79,030,249 (GRCm39) R692G probably damaging Het
Zfp763 A T 17: 33,240,758 (GRCm39) W24R 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
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
R6536:Hsd17b2 UTSW 8 118,428,921 (GRCm39) missense possibly damaging 0.96
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'- CAGTATTCACTGGCCCAGAGCAAG -3'
(R):5'- GCTGCCTGTCATTCACTCTAAGCAC -3'

Sequencing Primer
(F):5'- CCAGTGGAGAATGAGCCC -3'
(R):5'- AAGCCAAAACTGACAGTGTCC -3'
Posted On 2014-04-24