Incidental Mutation 'IGL01965:Ptgis'
ID182502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgis
Ensembl Gene ENSMUSG00000017969
Gene Nameprostaglandin I2 (prostacyclin) synthase
SynonymsCyp8a1, Pgis, Pgi2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01965
Quality Score
Status
Chromosome2
Chromosomal Location167191805-167240604 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 167208253 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 319 (W319R)
Ref Sequence ENSEMBL: ENSMUSP00000085357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018113] [ENSMUST00000088041]
Predicted Effect probably benign
Transcript: ENSMUST00000018113
AA Change: W319R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: W319R

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:p450 31 495 8.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088041
AA Change: W319R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: W319R

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:p450 31 496 1.9e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136271
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased blood urea nitrogen and creatinine levels, thickening of the aorta with age, mildly increased blood pressure, and kidney abnormalities including cysts, fibrosis, necrosis, and renal vascular congestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,756,982 noncoding transcript Het
Adm C T 7: 110,628,625 L67F probably benign Het
Bcl10 C T 3: 145,933,184 R194* probably null Het
Brat1 T C 5: 140,718,056 V688A probably benign Het
Cep57 T A 9: 13,821,520 probably benign Het
Dhx57 G A 17: 80,268,850 R604W probably damaging Het
Fndc3a A G 14: 72,540,402 I1121T probably benign Het
Fry A G 5: 150,381,621 E597G probably damaging Het
Gabra2 A G 5: 71,008,075 probably benign Het
Golgb1 A G 16: 36,917,920 D2207G probably damaging Het
Htr4 T A 18: 62,437,669 M265K probably damaging Het
Igf2r C T 17: 12,704,338 V1195M probably benign Het
Itga2 C A 13: 114,848,064 probably benign Het
Itih3 T C 14: 30,915,720 H494R probably damaging Het
Itpkb C A 1: 180,332,405 T32K probably damaging Het
Kif16b A T 2: 142,848,405 D252E probably damaging Het
Klhl33 A G 14: 50,891,730 Y681H probably damaging Het
Lats1 T A 10: 7,701,706 V198E probably benign Het
Me3 A G 7: 89,851,743 D554G probably benign Het
Mindy4 C T 6: 55,260,532 probably benign Het
Nipa2 G A 7: 55,944,623 probably benign Het
Olfr1162 A G 2: 88,050,436 F63L probably benign Het
Olfr1221 G A 2: 89,112,191 T107I probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr916 A T 9: 38,657,622 F257I probably benign Het
Pygl C T 12: 70,191,114 A717T probably benign Het
Rbbp8 A T 18: 11,722,260 K514I probably benign Het
Scn9a A T 2: 66,484,433 L1636H probably damaging Het
Serpina3j A G 12: 104,314,804 T79A probably benign Het
Sfxn4 A G 19: 60,858,744 probably benign Het
Shc2 T A 10: 79,627,189 probably benign Het
Sim2 A T 16: 94,121,178 Y294F probably benign Het
Tep1 A G 14: 50,863,495 probably benign Het
Ubr1 A G 2: 120,875,398 L1528P probably damaging Het
Usp53 A G 3: 122,961,153 probably null Het
Vmn2r87 G T 10: 130,479,055 L221I possibly damaging Het
Other mutations in Ptgis
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01562:Ptgis APN 2 167206830 missense probably damaging 1.00
IGL01859:Ptgis APN 2 167214806 critical splice donor site probably null
IGL02102:Ptgis APN 2 167225447 missense probably damaging 0.99
IGL02296:Ptgis APN 2 167206737 missense probably damaging 1.00
IGL02434:Ptgis APN 2 167240342 critical splice donor site probably null
PIT4142001:Ptgis UTSW 2 167206830 missense probably damaging 1.00
R0332:Ptgis UTSW 2 167214833 missense probably damaging 0.99
R0614:Ptgis UTSW 2 167206882 missense probably damaging 1.00
R1733:Ptgis UTSW 2 167191968 unclassified probably benign
R1756:Ptgis UTSW 2 167206803 missense probably damaging 1.00
R1779:Ptgis UTSW 2 167214858 missense probably benign 0.01
R2004:Ptgis UTSW 2 167214849 missense possibly damaging 0.94
R2019:Ptgis UTSW 2 167208279 missense probably damaging 1.00
R2019:Ptgis UTSW 2 167214810 nonsense probably null
R2512:Ptgis UTSW 2 167207276 missense probably damaging 0.99
R2679:Ptgis UTSW 2 167208193 missense probably benign 0.38
R4962:Ptgis UTSW 2 167225274 critical splice donor site probably null
R5174:Ptgis UTSW 2 167203470 critical splice acceptor site probably null
R5471:Ptgis UTSW 2 167224119 missense probably benign 0.03
R5717:Ptgis UTSW 2 167208364 splice site probably benign
R7268:Ptgis UTSW 2 167206756 missense probably benign 0.10
R7513:Ptgis UTSW 2 167225283 missense probably benign 0.00
R7515:Ptgis UTSW 2 167206838 missense possibly damaging 0.91
R7615:Ptgis UTSW 2 167223988 missense probably damaging 1.00
R7736:Ptgis UTSW 2 167191971 missense unknown
R7891:Ptgis UTSW 2 167227514 missense probably damaging 1.00
R7974:Ptgis UTSW 2 167227514 missense probably damaging 1.00
Posted On2014-05-07