Incidental Mutation 'R3159:Hsd17b2'
ID 258063
Institutional Source Beutler Lab
Gene Symbol Hsd17b2
Ensembl Gene ENSMUSG00000031844
Gene Name hydroxysteroid (17-beta) dehydrogenase 2
Synonyms 17 HSD type 2
MMRRC Submission 040610-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3159 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 118428643-118485766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118485491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 318 (D318A)
Ref Sequence ENSEMBL: ENSMUSP00000034304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034304]
AlphaFold P51658
Predicted Effect probably damaging
Transcript: ENSMUST00000034304
AA Change: D318A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: D318A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp1 T C 3: 37,013,564 (GRCm39) V1931A probably benign Het
Ccdc146 T C 5: 21,604,790 (GRCm39) E16G unknown Het
Ccr4 G T 9: 114,321,350 (GRCm39) N238K probably benign Het
Cdk15 T C 1: 59,340,440 (GRCm39) I313T probably damaging Het
Celsr3 T C 9: 108,704,909 (GRCm39) V464A possibly damaging Het
Cfap54 T C 10: 92,834,918 (GRCm39) I1096V probably benign Het
Dmpk A G 7: 18,826,944 (GRCm39) T579A probably benign Het
Dscam T C 16: 96,479,710 (GRCm39) T1146A probably benign Het
Galnt12 A G 4: 47,104,264 (GRCm39) D174G probably damaging Het
Gm5145 A G 17: 20,791,155 (GRCm39) I178V probably benign Het
Gxylt1 A G 15: 93,142,913 (GRCm39) I384T probably benign Het
Hmgcr C T 13: 96,802,355 (GRCm39) V110I probably damaging Het
Ighv8-6 A G 12: 115,129,508 (GRCm39) S83P probably damaging Het
Isg20 C A 7: 78,564,201 (GRCm39) A36E possibly damaging Het
Jade3 A G X: 20,345,783 (GRCm39) K54E probably damaging Het
Mark1 A T 1: 184,640,584 (GRCm39) Y505N probably damaging Het
Mmp11 C T 10: 75,762,948 (GRCm39) probably benign Het
Myo1g G T 11: 6,464,527 (GRCm39) T511K possibly damaging Het
Ociad1 A T 5: 73,467,688 (GRCm39) R155* probably null Het
Or5t7 A G 2: 86,506,855 (GRCm39) I274T probably benign Het
Pcdha2 C T 18: 37,074,250 (GRCm39) T627I probably damaging Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Rbm48 A T 5: 3,646,105 (GRCm39) V33D possibly damaging Het
Rfx6 A T 10: 51,602,816 (GRCm39) R778W probably damaging Het
Sav1 A T 12: 70,031,326 (GRCm39) D65E probably benign Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Shank2 C A 7: 143,635,611 (GRCm39) N328K probably damaging Het
Slc8a3 C A 12: 81,361,766 (GRCm39) R351L probably damaging Het
Slc9b1 G A 3: 135,077,606 (GRCm39) G100E probably damaging Het
Slit1 A G 19: 41,592,812 (GRCm39) Y1214H probably benign Het
Smu1 T A 4: 40,754,529 (GRCm39) R123S possibly damaging Het
Tgfb3 A T 12: 86,105,760 (GRCm39) W332R probably damaging Het
Tmem132a C T 19: 10,836,901 (GRCm39) W680* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trav4-4-dv10 A T 14: 53,921,559 (GRCm39) K86* probably null Het
Zfp667 T C 7: 6,308,999 (GRCm39) C556R probably damaging Het
Zranb3 A G 1: 127,900,686 (GRCm39) I713T probably benign 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
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'- AGCATCTGAGCCTTGCTTTC -3'
(R):5'- GAATGTGACATTCCCCACCC -3'

Sequencing Primer
(F):5'- CTTCTTGTGTTCCAGACATCACAGG -3'
(R):5'- AGTGCACTGTCCTTAAAGCTC -3'
Posted On 2015-01-23