Incidental Mutation 'IGL00163:Hsd17b2'
ID1361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsd17b2
Ensembl Gene ENSMUSG00000031844
Gene Namehydroxysteroid (17-beta) dehydrogenase 2
Synonyms17 HSD type 2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00163
Quality Score
Status
Chromosome8
Chromosomal Location117701904-117759027 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117758671 bp
ZygosityHeterozygous
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]
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: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cdadc1 G T 14: 59,581,369 H337N probably damaging Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Eif3h T A 15: 51,786,799 I330F probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr50 A G 2: 36,794,000 I255V probably benign Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Ptn T C 6: 36,743,489 K43E probably benign Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tmem259 A G 10: 79,979,734 V81A probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Zfp511 T C 7: 140,037,516 Y144H possibly damaging Het
Other mutations in Hsd17b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Hsd17b2 APN 8 117734694 missense probably benign 0.00
R0664:Hsd17b2 UTSW 8 117758701 missense possibly damaging 0.67
R1506:Hsd17b2 UTSW 8 117702265 critical splice donor site probably null
R1627:Hsd17b2 UTSW 8 117702170 missense possibly damaging 0.53
R1822:Hsd17b2 UTSW 8 117758749 missense possibly damaging 0.47
R1930:Hsd17b2 UTSW 8 117758904 missense possibly damaging 0.56
R2055:Hsd17b2 UTSW 8 117702174 missense possibly damaging 0.96
R3159:Hsd17b2 UTSW 8 117758752 missense probably damaging 1.00
R6536:Hsd17b2 UTSW 8 117702182 missense possibly damaging 0.96
Posted On2011-07-12