Incidental Mutation 'IGL03354:Ptgds'
ID419863
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: 0.076) question?
Stock #IGL03354
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Camk2d T C 3: 126,796,966 probably null Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cd200r3 C T 16: 44,953,597 A124V possibly damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Cyp2d12 A T 15: 82,558,961 D357V probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Klhl14 T A 18: 21,651,728 D214V probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Plekho2 T C 9: 65,559,421 E129G probably null Het
Rars A G 11: 35,824,475 L248P probably damaging Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Ptgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Ptgds APN 2 25469112 missense probably damaging 0.99
IGL03035:Ptgds APN 2 25469610 missense probably benign 0.06
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
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
Posted On2016-08-02