Incidental Mutation 'IGL02604:Hpgds'
ID300183
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 #IGL02604
Quality Score
Status
Chromosome6
Chromosomal Location65117293-65144908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65123610 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 128 (L128Q)
Ref Sequence ENSEMBL: ENSMUSP00000031982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031982]
Predicted Effect probably damaging
Transcript: ENSMUST00000031982
AA Change: L128Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031982
Gene: ENSMUSG00000029919
AA Change: L128Q

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,567,948 V61A probably benign Het
Arfgef1 G A 1: 10,181,050 probably benign Het
Arhgef4 T A 1: 34,811,723 L594* probably null Het
Cacna2d3 T C 14: 29,293,109 T375A possibly damaging Het
Calb2 A C 8: 110,148,528 Y155D probably damaging Het
Camkmt A G 17: 85,096,625 T92A possibly damaging Het
Chsy3 A G 18: 59,409,115 S442G probably benign Het
Cyp4f13 T C 17: 32,932,421 I173V probably benign Het
Dapk1 A G 13: 60,748,320 T741A probably benign Het
Dennd3 T C 15: 73,556,403 I866T probably damaging Het
Dhrs2 A T 14: 55,237,321 I138F possibly damaging Het
Dscaml1 C T 9: 45,744,328 probably benign Het
Fsbp A G 4: 11,584,147 E282G probably damaging Het
Hspa9 A G 18: 34,954,213 V13A unknown Het
Itgb3 A G 11: 104,662,443 E709G probably damaging Het
Jarid2 T C 13: 44,874,401 S148P probably damaging Het
Kcna6 C T 6: 126,739,204 G241R probably benign Het
Kdm5a T A 6: 120,431,980 N1541K probably benign Het
Kel C A 6: 41,687,582 E640D probably damaging Het
Lcp1 A T 14: 75,224,126 I520F probably benign Het
Lgr4 A G 2: 110,011,313 I524V probably damaging Het
Maats1 A G 16: 38,321,559 probably benign Het
Mup20 A C 4: 62,051,904 Y139D probably damaging Het
Notch4 T C 17: 34,565,388 probably null Het
Obox7 A G 7: 14,665,368 E173G probably benign Het
Olfr1502 T A 19: 13,861,806 N4K probably benign Het
Olfr153 A T 2: 87,532,605 T191S probably damaging Het
Olfr447 T A 6: 42,912,058 C178* probably null Het
Olfr517 T A 7: 108,868,650 Y168F probably benign Het
Olfr889 C T 9: 38,115,852 Q19* probably null Het
Patl2 T G 2: 122,125,333 T241P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhg6 T C 6: 125,377,379 probably benign Het
Pon1 C A 6: 5,168,375 G344V probably damaging Het
Ppp1r21 G T 17: 88,572,743 K529N probably benign Het
Prdm15 A G 16: 97,821,942 S203P probably benign Het
Psmc2 T A 5: 21,795,100 probably null Het
Ptn T C 6: 36,715,718 M166V unknown Het
Ptpn13 A G 5: 103,501,903 N391D probably benign Het
Rnf214 A G 9: 45,869,543 S383P probably damaging Het
Rufy4 T A 1: 74,134,189 L438H probably damaging Het
Scarf2 A G 16: 17,803,744 T353A probably damaging Het
Serpinb9e A C 13: 33,257,759 I225L probably benign Het
Slc25a40 T C 5: 8,453,219 V312A probably benign Het
Tmc3 A G 7: 83,622,619 Y993C possibly damaging Het
Trim56 A C 5: 137,113,076 C529G probably damaging Het
Trim8 T C 19: 46,515,478 S490P probably damaging Het
Trmt6 A T 2: 132,810,437 Y147* probably null Het
Vmn2r109 T A 17: 20,540,701 H798L probably damaging Het
Vps35 A G 8: 85,286,389 L153P probably damaging Het
Wdr82 T C 9: 106,183,681 I131T probably damaging Het
Zfp69 A T 4: 120,931,463 D218E probably benign Het
Other mutations in Hpgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02704:Hpgds APN 6 65123637 nonsense probably null
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