Incidental Mutation 'R9713:Hsd17b2'
ID 730319
Institutional Source Beutler Lab
Gene Symbol Hsd17b2
Ensembl Gene ENSMUSG00000031844
Gene Name hydroxysteroid (17-beta) dehydrogenase 2
Synonyms 17 HSD type 2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9713 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 118428643-118485766 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 118485342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034304] [ENSMUST00000034304] [ENSMUST00000034304]
AlphaFold P51658
Predicted Effect probably null
Transcript: ENSMUST00000034304
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844

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 probably null
Transcript: ENSMUST00000034304
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844

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 probably null
Transcript: ENSMUST00000034304
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A T 14: 41,820,060 (GRCm39) I107F probably benign Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,528,556 (GRCm39) I277N probably damaging Het
Atp11b A T 3: 35,885,560 (GRCm39) Y851F probably damaging Het
Cdhr1 A G 14: 36,801,751 (GRCm39) S731P probably damaging Het
Csf2rb2 A G 15: 78,176,730 (GRCm39) S221P possibly damaging Het
Dact3 A T 7: 16,620,292 (GRCm39) I596F unknown Het
Eya4 A T 10: 23,027,870 (GRCm39) Y287* probably null Het
Folr2 T C 7: 101,489,809 (GRCm39) D153G probably benign Het
Gal3st2b A T 1: 93,866,409 (GRCm39) I37L probably benign Het
H2ac8 G A 13: 23,755,041 (GRCm39) P81L probably damaging Het
Hectd1 A G 12: 51,823,328 (GRCm39) M1027T probably benign Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Igkv4-74 A G 6: 69,161,993 (GRCm39) Y59H probably damaging Het
Ilvbl T C 10: 78,412,489 (GRCm39) V70A probably benign Het
Klrh1 A G 6: 129,752,359 (GRCm39) V52A possibly damaging Het
Ly9 A C 1: 171,428,756 (GRCm39) I288S probably damaging Het
Muc5b A G 7: 141,416,678 (GRCm39) E3208G probably benign Het
Myo1b G A 1: 51,818,766 (GRCm39) T503I possibly damaging Het
Ntm T A 9: 29,090,327 (GRCm39) I131F possibly damaging Het
Odad1 T G 7: 45,578,562 (GRCm39) V45G probably damaging Het
Or1p4-ps1 A G 11: 74,208,078 (GRCm39) T76A probably damaging Het
Or51f23c-ps1 T C 7: 102,431,633 (GRCm39) *317Q probably null Het
Or52ae7 C T 7: 103,119,914 (GRCm39) L223F possibly damaging Het
Or5b108 A T 19: 13,168,727 (GRCm39) Y232F probably benign Het
Or8k38 T C 2: 86,488,041 (GRCm39) T254A possibly damaging Het
Pbrm1 T C 14: 30,828,123 (GRCm39) S1317P probably damaging Het
Spaca6 T A 17: 18,058,498 (GRCm39) Y39* probably null Het
Spen G A 4: 141,244,331 (GRCm39) R235C unknown Het
Sycp2l C A 13: 41,326,183 (GRCm39) A746D probably damaging Het
Tgm3 A G 2: 129,867,229 (GRCm39) E158G possibly damaging Het
Trim26 A T 17: 37,168,307 (GRCm39) D324V probably damaging Het
Ttc9b T C 7: 27,353,475 (GRCm39) S42P probably benign Het
Ttn C A 2: 76,682,434 (GRCm39) E952* probably null Het
Ulk4 C A 9: 120,873,862 (GRCm39) E1190* probably null Het
Vmn1r85 A T 7: 12,818,458 (GRCm39) S229T probably damaging Het
Wwc1 C A 11: 35,766,576 (GRCm39) A560S probably benign Het
Zfp787 A G 7: 6,146,059 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ATGGAGTAGCATTATACGGACTC -3'
(R):5'- GAAATGGCATGCTGGATGTCC -3'

Sequencing Primer
(F):5'- GCTATAAATCTGGAAAAGTTCAAGGC -3'
(R):5'- ATGCTGGATGTCCCGAAGC -3'
Posted On 2022-10-06