Incidental Mutation 'IGL03117:Ptgds'
ID 419489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgds
Ensembl Gene ENSMUSG00000015090
Gene Name prostaglandin D2 synthase (brain)
Synonyms L-PGDS, PGD2, Ptgs3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL03117
Quality Score
Status
Chromosome 2
Chromosomal Location 25356721-25360058 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25359622 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09114
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,189,909 (GRCm39) L109P probably damaging Het
Caprin2 A T 6: 148,763,964 (GRCm39) S568T possibly damaging Het
Catip A G 1: 74,403,744 (GRCm39) T154A probably null Het
Ccdc187 A G 2: 26,177,980 (GRCm39) S270P possibly damaging Het
Ccdc88a A G 11: 29,324,559 (GRCm39) Y39C probably damaging Het
Chrdl2 A T 7: 99,676,787 (GRCm39) H203L possibly damaging Het
Chrnb2 A G 3: 89,670,552 (GRCm39) V62A probably damaging Het
Cklf T A 8: 104,984,055 (GRCm39) S73T possibly damaging Het
Clk1 A G 1: 58,456,166 (GRCm39) probably null Het
Ctdp1 T C 18: 80,492,716 (GRCm39) D593G probably damaging Het
Ctsc A T 7: 87,958,988 (GRCm39) I423F probably damaging Het
D130043K22Rik T A 13: 25,073,825 (GRCm39) V968E probably damaging Het
Dennd4c A G 4: 86,696,140 (GRCm39) S166G possibly damaging Het
Dnah2 G T 11: 69,327,117 (GRCm39) probably benign Het
Dnajb11 G T 16: 22,687,888 (GRCm39) R206L probably benign Het
Dsel A T 1: 111,786,908 (GRCm39) probably benign Het
Ehd2 T C 7: 15,684,396 (GRCm39) S468G possibly damaging Het
Ehmt2 T A 17: 35,125,787 (GRCm39) V640E possibly damaging Het
Elmo2 T A 2: 165,140,573 (GRCm39) E299D probably benign Het
Eps8l1 T C 7: 4,473,886 (GRCm39) L231P probably damaging Het
Esd A G 14: 74,978,686 (GRCm39) T83A probably damaging Het
Flt3 A G 5: 147,293,020 (GRCm39) F529L probably benign Het
Hnrnpu G A 1: 178,158,339 (GRCm39) probably benign Het
Hpx G T 7: 105,249,278 (GRCm39) A7E possibly damaging Het
Ighv6-5 C T 12: 114,380,320 (GRCm39) V85M possibly damaging Het
Itpr3 G A 17: 27,338,240 (GRCm39) V2503I probably damaging Het
Itprid1 A G 6: 55,875,114 (GRCm39) T355A probably benign Het
Matr3 G T 18: 35,705,710 (GRCm39) G212C probably damaging Het
Mrpl35 A T 6: 71,793,263 (GRCm39) Y129* probably null Het
Myh2 T C 11: 67,071,710 (GRCm39) I509T possibly damaging Het
Nat8l G T 5: 34,158,288 (GRCm39) A233S probably damaging Het
Nipbl A C 15: 8,361,936 (GRCm39) L1447W probably damaging Het
Paf1 T A 7: 28,094,481 (GRCm39) C31S possibly damaging Het
Parp4 A C 14: 56,840,313 (GRCm39) T573P probably benign Het
Phf12 A T 11: 77,913,846 (GRCm39) probably benign Het
Pi4k2b A G 5: 52,905,765 (GRCm39) E102G probably benign Het
Pou2f1 A G 1: 165,762,382 (GRCm39) C7R probably benign Het
Prpsap2 T C 11: 61,631,815 (GRCm39) R181G probably benign Het
Psd A G 19: 46,311,561 (GRCm39) probably benign Het
Rab21 A T 10: 115,151,097 (GRCm39) probably null Het
Relb T C 7: 19,346,582 (GRCm39) D330G probably damaging Het
Rhoc A T 3: 104,700,236 (GRCm39) T100S probably benign Het
Ryr1 G T 7: 28,802,389 (GRCm39) H744N probably damaging Het
Sardh C T 2: 27,129,458 (GRCm39) G280D probably damaging Het
Scyl2 A C 10: 89,493,729 (GRCm39) N346K possibly damaging Het
Sec16b T C 1: 157,362,970 (GRCm39) F267S probably damaging Het
Slc44a5 T A 3: 153,956,714 (GRCm39) M322K probably benign Het
St8sia4 T A 1: 95,519,508 (GRCm39) N327Y probably benign Het
Tbl1xr1 T A 3: 22,257,323 (GRCm39) Y395* probably null Het
Unc13c A T 9: 73,441,307 (GRCm39) S1897R probably benign Het
Vangl2 A G 1: 171,840,415 (GRCm39) S58P probably damaging Het
Vmn1r17 A G 6: 57,337,501 (GRCm39) I288T probably benign Het
Vmn1r236 A G 17: 21,507,508 (GRCm39) I209V probably benign Het
Zfp809 A G 9: 22,149,950 (GRCm39) Y149C probably damaging Het
Other mutations in Ptgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Ptgds APN 2 25,359,124 (GRCm39) missense probably damaging 0.99
IGL03035:Ptgds APN 2 25,359,622 (GRCm39) missense probably benign 0.06
IGL03036:Ptgds APN 2 25,359,622 (GRCm39) missense probably benign 0.06
IGL03352:Ptgds APN 2 25,359,622 (GRCm39) missense probably benign 0.06
IGL03354:Ptgds APN 2 25,359,622 (GRCm39) missense probably benign 0.06
R0780:Ptgds UTSW 2 25,358,104 (GRCm39) missense possibly damaging 0.90
R0885:Ptgds UTSW 2 25,357,357 (GRCm39) missense possibly damaging 0.80
R4820:Ptgds UTSW 2 25,359,058 (GRCm39) missense probably benign 0.02
R7000:Ptgds UTSW 2 25,357,828 (GRCm39) critical splice donor site probably null
R7522:Ptgds UTSW 2 25,357,920 (GRCm39) missense probably benign 0.38
R8401:Ptgds UTSW 2 25,359,669 (GRCm39) missense unknown
R9794:Ptgds UTSW 2 25,359,129 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02