Incidental Mutation 'IGL01562:Ptgis'
ID 90869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgis
Ensembl Gene ENSMUSG00000017969
Gene Name prostaglandin I2 (prostacyclin) synthase
Synonyms Cyp8a1, Pgi2, Pgis
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01562
Quality Score
Status
Chromosome 2
Chromosomal Location 167033725-167082524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167048750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 422 (Y422C)
Ref Sequence ENSEMBL: ENSMUSP00000085357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018113] [ENSMUST00000088041]
AlphaFold O35074
Predicted Effect probably damaging
Transcript: ENSMUST00000018113
AA Change: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: Y422C

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: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: Y422C

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
Meta Mutation Damage Score 0.2141 question?
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crym A G 7: 119,794,622 (GRCm39) V199A probably damaging Het
Dsel T C 1: 111,788,049 (GRCm39) T829A probably benign Het
Frg1 T C 8: 41,869,946 (GRCm39) K18R possibly damaging Het
H2-M10.5 A G 17: 37,084,668 (GRCm39) S131G possibly damaging Het
Ift172 A T 5: 31,424,591 (GRCm39) I701N probably damaging Het
Il5ra T C 6: 106,708,865 (GRCm39) I292V probably benign Het
Nup98 A G 7: 101,835,125 (GRCm39) S243P probably damaging Het
Pramel16 A G 4: 143,677,435 (GRCm39) L48S probably damaging Het
Senp2 T C 16: 21,828,437 (GRCm39) C16R probably damaging Het
St7 T A 6: 17,922,034 (GRCm39) L411Q probably damaging Het
Tanc2 A T 11: 105,670,895 (GRCm39) Y164F probably benign Het
Ttc23l T C 15: 10,551,476 (GRCm39) probably benign Het
Vmn2r66 G T 7: 84,656,495 (GRCm39) Q174K probably benign Het
Wrap73 A G 4: 154,229,794 (GRCm39) E55G possibly damaging Het
Other mutations in Ptgis
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Ptgis APN 2 167,056,726 (GRCm39) critical splice donor site probably null
IGL01965:Ptgis APN 2 167,050,173 (GRCm39) missense probably benign 0.00
IGL02102:Ptgis APN 2 167,067,367 (GRCm39) missense probably damaging 0.99
IGL02296:Ptgis APN 2 167,048,657 (GRCm39) missense probably damaging 1.00
IGL02434:Ptgis APN 2 167,082,262 (GRCm39) critical splice donor site probably null
PIT4142001:Ptgis UTSW 2 167,048,750 (GRCm39) missense probably damaging 1.00
R0332:Ptgis UTSW 2 167,056,753 (GRCm39) missense probably damaging 0.99
R0614:Ptgis UTSW 2 167,048,802 (GRCm39) missense probably damaging 1.00
R1733:Ptgis UTSW 2 167,033,888 (GRCm39) unclassified probably benign
R1756:Ptgis UTSW 2 167,048,723 (GRCm39) missense probably damaging 1.00
R1779:Ptgis UTSW 2 167,056,778 (GRCm39) missense probably benign 0.01
R2004:Ptgis UTSW 2 167,056,769 (GRCm39) missense possibly damaging 0.94
R2019:Ptgis UTSW 2 167,056,730 (GRCm39) nonsense probably null
R2019:Ptgis UTSW 2 167,050,199 (GRCm39) missense probably damaging 1.00
R2512:Ptgis UTSW 2 167,049,196 (GRCm39) missense probably damaging 0.99
R2679:Ptgis UTSW 2 167,050,113 (GRCm39) missense probably benign 0.38
R4962:Ptgis UTSW 2 167,067,194 (GRCm39) critical splice donor site probably null
R5174:Ptgis UTSW 2 167,045,390 (GRCm39) critical splice acceptor site probably null
R5471:Ptgis UTSW 2 167,066,039 (GRCm39) missense probably benign 0.03
R5717:Ptgis UTSW 2 167,050,284 (GRCm39) splice site probably benign
R7268:Ptgis UTSW 2 167,048,676 (GRCm39) missense probably benign 0.10
R7513:Ptgis UTSW 2 167,067,203 (GRCm39) missense probably benign 0.00
R7515:Ptgis UTSW 2 167,048,758 (GRCm39) missense possibly damaging 0.91
R7615:Ptgis UTSW 2 167,065,908 (GRCm39) missense probably damaging 1.00
R7736:Ptgis UTSW 2 167,033,891 (GRCm39) missense unknown
R7891:Ptgis UTSW 2 167,069,434 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09