Incidental Mutation 'IGL00163:Hsd17b2'
ID 1361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b2
Ensembl Gene ENSMUSG00000031844
Gene Name hydroxysteroid (17-beta) dehydrogenase 2
Synonyms 17 HSD type 2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00163
Quality Score
Status
Chromosome 8
Chromosomal Location 118428643-118485766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118485410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 291 (D291V)
Ref Sequence ENSEMBL: ENSMUSP00000034304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034304]
AlphaFold P51658
Predicted Effect probably damaging
Transcript: ENSMUST00000034304
AA Change: D291V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: D291V

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,786,310 (GRCm39) Q103* probably null Het
4933406P04Rik C A 10: 20,186,970 (GRCm39) probably benign Het
Adgrg6 T C 10: 14,343,194 (GRCm39) E251G probably damaging Het
Ago2 T C 15: 72,998,302 (GRCm39) H292R probably benign Het
Akr1c6 T C 13: 4,498,977 (GRCm39) probably benign Het
Arhgap24 T A 5: 103,008,265 (GRCm39) M62K possibly damaging Het
Bicd1 A G 6: 149,451,888 (GRCm39) H834R possibly damaging Het
Ccdc77 G T 6: 120,306,045 (GRCm39) probably benign Het
Cdadc1 G T 14: 59,818,818 (GRCm39) H337N probably damaging Het
Cep192 A G 18: 68,013,871 (GRCm39) T2424A possibly damaging Het
Cep78 T C 19: 15,946,504 (GRCm39) T443A probably benign Het
Chrna1 T A 2: 73,400,986 (GRCm39) E181D probably benign Het
Dmxl1 G A 18: 49,984,534 (GRCm39) D177N probably damaging Het
Eif3h T A 15: 51,650,195 (GRCm39) I330F probably damaging Het
Fam184b T C 5: 45,697,091 (GRCm39) E691G probably benign Het
Fastkd1 T A 2: 69,537,893 (GRCm39) S230C probably benign Het
Gipc2 T C 3: 151,843,215 (GRCm39) I141V probably damaging Het
Itpr2 G A 6: 146,292,334 (GRCm39) A420V possibly damaging Het
Jag1 C T 2: 136,927,952 (GRCm39) probably null Het
Minar1 A T 9: 89,473,150 (GRCm39) probably benign Het
Mmp1b T A 9: 7,387,946 (GRCm39) Y16F probably benign Het
Muc4 G T 16: 32,754,090 (GRCm38) R1322M probably benign Het
Myo9b T C 8: 71,801,379 (GRCm39) I1179T probably benign Het
Nos1ap A G 1: 170,342,175 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,174,199 (GRCm39) V702E probably damaging Het
Or13d1 G A 4: 52,971,058 (GRCm39) V146M possibly damaging Het
Or1j21 A G 2: 36,684,012 (GRCm39) I255V probably benign Het
Or2ag17 T A 7: 106,389,796 (GRCm39) R137S probably benign Het
Or2y10 A C 11: 49,454,747 (GRCm39) probably benign Het
Or4c31 A T 2: 88,291,696 (GRCm39) Y4F probably benign Het
Or4f7 A C 2: 111,644,126 (GRCm39) probably benign Het
Osmr A T 15: 6,873,926 (GRCm39) L157* probably null Het
Pdzph1 T C 17: 59,281,791 (GRCm39) T164A possibly damaging Het
Ptn T C 6: 36,720,424 (GRCm39) K43E probably benign Het
Rbm45 T C 2: 76,209,051 (GRCm39) V340A probably damaging Het
Rnf5 C T 17: 34,821,083 (GRCm39) G83E probably damaging Het
Scin G T 12: 40,126,971 (GRCm39) Q459K probably benign Het
Serpina5 C A 12: 104,071,479 (GRCm39) A362D probably damaging Het
Tex47 T A 5: 7,355,468 (GRCm39) Y216* probably null Het
Tll1 A T 8: 64,469,170 (GRCm39) H984Q probably benign Het
Tmem259 A G 10: 79,815,568 (GRCm39) V81A probably benign Het
Tns3 A T 11: 8,401,066 (GRCm39) S1077R probably benign Het
Trgv3 G A 13: 19,427,381 (GRCm39) S88N probably benign Het
Ttc17 A G 2: 94,153,428 (GRCm39) probably benign Het
Tubgcp2 T C 7: 139,610,935 (GRCm39) T149A possibly damaging Het
Ulk1 G A 5: 110,935,738 (GRCm39) A25V probably damaging Het
Vps13d T C 4: 144,895,110 (GRCm39) E378G probably damaging Het
Vsig10 A G 5: 117,476,479 (GRCm39) N311S probably benign Het
Zfp511 T C 7: 139,617,429 (GRCm39) Y144H possibly damaging Het
Other mutations in Hsd17b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9713:Hsd17b2 UTSW 8 118,485,342 (GRCm39) critical splice acceptor site probably null
Posted On 2011-07-12