Incidental Mutation 'IGL03035:Ptgds'
ID408624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgds
Ensembl Gene ENSMUSG00000015090
Gene Nameprostaglandin D2 synthase (brain)
SynonymsPtgs3, PGD2, L-PGDS
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL03035
Quality Score
Status
Chromosome2
Chromosomal Location25466709-25470046 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25469610 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
Ref Sequence ENSEMBL: ENSMUSP00000109897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015234] [ENSMUST00000114251] [ENSMUST00000114259]
Predicted Effect probably benign
Transcript: ENSMUST00000015234
AA Change: T22A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000015234
Gene: ENSMUSG00000015090
AA Change: T22A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:Lipocalin 40 184 4.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114251
AA Change: T22A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109889
Gene: ENSMUSG00000015090
AA Change: T22A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:Lipocalin 40 184 4.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114259
AA Change: T22A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109897
Gene: ENSMUSG00000015090
AA Change: T22A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
Pfam:Lipocalin 40 184 4.2e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144016
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele fail to exhibit PGE2- and bicuculline-induced allodynia and exhibit decreased susceptibility to IgE-induced PCA. Mice homozygous for another knock-out allele show normal induction of muscle injury after reperfusion of ischemic skeletal muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,627,593 L1004P probably damaging Het
Adgrf5 T C 17: 43,430,627 I385T possibly damaging Het
Alpk3 T C 7: 81,078,604 V494A probably benign Het
Camta2 C A 11: 70,671,509 E1021* probably null Het
Ccdc6 T A 10: 70,182,176 S334T probably benign Het
Cd84 T C 1: 171,852,034 V93A probably damaging Het
Ceacam20 T C 7: 19,977,908 probably null Het
Crip2 A C 12: 113,144,125 T103P probably benign Het
Cyp4f14 T A 17: 32,914,634 T83S probably benign Het
Dapk1 T A 13: 60,716,773 V127D probably damaging Het
Dnah7c A G 1: 46,524,117 E609G probably benign Het
Dscam T A 16: 96,819,970 I513F possibly damaging Het
Ell2 T A 13: 75,763,648 L351* probably null Het
Emcn G T 3: 137,372,851 probably null Het
Fdft1 A T 14: 63,163,389 C98* probably null Het
Fer1l4 A G 2: 156,022,606 S1663P possibly damaging Het
Flt4 C A 11: 49,645,897 Y1231* probably null Het
Gatb A G 3: 85,601,947 K139E probably damaging Het
Gm13212 C A 4: 145,622,232 Q80K possibly damaging Het
Gtf2a1 C A 12: 91,572,637 probably benign Het
Gtf3c2 A C 5: 31,166,014 V574G possibly damaging Het
Heatr1 T C 13: 12,413,219 probably benign Het
Homer2 T A 7: 81,624,278 T57S possibly damaging Het
Ice2 C A 9: 69,425,688 F825L probably benign Het
Lepr C A 4: 101,764,980 L370I probably damaging Het
Nalcn G A 14: 123,278,218 Q1724* probably null Het
Nufip1 A G 14: 76,115,818 D222G probably damaging Het
Olfr1289 T C 2: 111,483,823 V159A probably benign Het
Prl3b1 A G 13: 27,249,533 probably benign Het
Ptbp3 A T 4: 59,477,218 M393K probably benign Het
Rapgef2 T A 3: 79,094,424 H282L probably damaging Het
Rars2 T C 4: 34,656,865 probably null Het
Rnf213 G A 11: 119,445,626 probably benign Het
Ros1 C A 10: 52,075,984 probably benign Het
Slx4ip A G 2: 137,067,703 D206G possibly damaging Het
Sprr1a T A 3: 92,484,577 D39V probably benign Het
Stab1 A G 14: 31,147,769 V1442A probably benign Het
Tbx3 C A 5: 119,683,096 probably benign Het
Ubl3 A G 5: 148,506,137 *118Q probably null Het
Vmn2r55 G A 7: 12,670,816 S220L probably benign Het
Vps36 A G 8: 22,218,415 K362E probably benign Het
Other mutations in Ptgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Ptgds APN 2 25469112 missense probably damaging 0.99
IGL03036:Ptgds APN 2 25469610 missense probably benign 0.06
IGL03117:Ptgds APN 2 25469610 missense probably benign 0.06
IGL03352:Ptgds APN 2 25469610 missense probably benign 0.06
IGL03354:Ptgds APN 2 25469610 missense probably benign 0.06
R0780:Ptgds UTSW 2 25468092 missense possibly damaging 0.90
R0885:Ptgds UTSW 2 25467345 missense possibly damaging 0.80
R4820:Ptgds UTSW 2 25469046 missense probably benign 0.02
R7000:Ptgds UTSW 2 25467816 critical splice donor site probably null
R7522:Ptgds UTSW 2 25467908 missense probably benign 0.38
R8401:Ptgds UTSW 2 25469657 missense unknown
Posted On2016-08-02