Incidental Mutation 'IGL02704:Hpgds'
ID304277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpgds
Ensembl Gene ENSMUSG00000029919
Gene Namehematopoietic prostaglandin D synthase
SynonymsPtgds2, H-PGDS
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL02704
Quality Score
Status
Chromosome6
Chromosomal Location65117293-65144908 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 65123637 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 119 (L119*)
Ref Sequence ENSEMBL: ENSMUSP00000031982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031982]
Predicted Effect probably null
Transcript: ENSMUST00000031982
AA Change: L119*
SMART Domains Protein: ENSMUSP00000031982
Gene: ENSMUSG00000029919
AA Change: L119*

DomainStartEndE-ValueType
Pfam:GST_N 4 73 2.8e-13 PFAM
Pfam:GST_N_3 14 79 2.9e-7 PFAM
Pfam:GST_C 91 185 3.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205250
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display increased IL-2 synthesis and heightened proliferation of ex vivo lymph node cultures in response to BSA or concanavalin A challenge, and fail to resolve a Th1-driven delayed type hypersensitivity reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Ddah2 C A 17: 35,061,007 D158E possibly damaging Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1104 T C 2: 87,022,277 Q89R probably benign Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Olfr954 T C 9: 39,462,283 V284A probably damaging Het
Onecut1 A G 9: 74,863,030 N245S probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Pou1f1 A T 16: 65,529,799 Q121L possibly damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Tmem217 A T 17: 29,526,558 V66D probably damaging Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign Het
Other mutations in Hpgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02604:Hpgds APN 6 65123610 missense probably damaging 1.00
R1888:Hpgds UTSW 6 65138233 missense probably damaging 1.00
R1888:Hpgds UTSW 6 65138233 missense probably damaging 1.00
R4461:Hpgds UTSW 6 65123634 missense probably damaging 1.00
R5323:Hpgds UTSW 6 65132185 missense probably benign 0.05
Posted On2015-04-16