Incidental Mutation 'IGL02296:Ptgis'
ID290181
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 #IGL02296
Quality Score
Status
Chromosome2
Chromosomal Location167191805-167240604 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 167206737 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 453 (K453R)
Ref Sequence ENSEMBL: ENSMUSP00000085357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018113] [ENSMUST00000088041]
Predicted Effect probably damaging
Transcript: ENSMUST00000018113
AA Change: K453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: K453R

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:p450 31 495 8.6e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088041
AA Change: K453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: K453R

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:p450 31 496 1.9e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143645
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,769,185 R7S unknown Het
Acss3 A T 10: 107,053,451 Y169* probably null Het
Anln T C 9: 22,372,187 K450R possibly damaging Het
Armc10 A T 5: 21,660,633 R225S probably benign Het
Cbfb T A 8: 105,178,680 Y85N probably damaging Het
Col13a1 G T 10: 61,862,025 probably benign Het
Dclk2 T C 3: 86,793,293 I626V probably damaging Het
Epb41 G A 4: 132,003,754 T172M probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Glyat A T 19: 12,651,261 D140V probably damaging Het
Gm13089 G A 4: 143,698,481 Q131* probably null Het
Hikeshi A T 7: 89,935,922 F25I probably damaging Het
Ifi204 A G 1: 173,749,314 Y574H possibly damaging Het
Kcnd3 C T 3: 105,667,001 R501* probably null Het
Kdm4a T C 4: 118,177,465 E23G probably damaging Het
Map3k19 C T 1: 127,824,246 S456N probably damaging Het
Mgat4c A G 10: 102,385,160 probably benign Het
Nup214 A G 2: 31,988,188 N289S possibly damaging Het
Obsl1 G T 1: 75,498,149 A674D possibly damaging Het
Olfr384 A T 11: 73,602,706 N42I probably damaging Het
Olfr640 A T 7: 104,022,104 probably null Het
Pak2 T C 16: 32,044,002 probably null Het
Pde4a A T 9: 21,192,569 N138I possibly damaging Het
Per1 A G 11: 69,102,175 D286G probably damaging Het
Prdx2 T A 8: 84,974,052 D188E probably benign Het
Radil A G 5: 142,506,463 V470A probably benign Het
Rgs12 A G 5: 34,966,120 S416G probably damaging Het
Rnf213 A G 11: 119,463,336 H4013R probably benign Het
Ttc17 A G 2: 94,377,710 L185P probably damaging Het
Ttn A G 2: 76,712,424 I33406T probably damaging Het
Ube2e1 A G 14: 18,331,062 probably benign 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
IGL01965:Ptgis APN 2 167208253 missense probably benign 0.00
IGL02102:Ptgis APN 2 167225447 missense probably damaging 0.99
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
Posted On2015-04-16