Incidental Mutation 'R7891:Ptgis'
ID 609316
Institutional Source Beutler Lab
Gene Symbol Ptgis
Ensembl Gene ENSMUSG00000017969
Gene Name prostaglandin I2 (prostacyclin) synthase
Synonyms Cyp8a1, Pgi2, Pgis
MMRRC Submission 045943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7891 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 167033725-167082524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167069434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
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: D50G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: D50G

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: D50G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: D50G

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
Pfam:p450 31 496 1.9e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T G 2: 164,920,864 (GRCm39) E56D unknown Het
9930111J21Rik2 T C 11: 48,910,543 (GRCm39) Q630R probably benign Het
Abca9 A G 11: 110,054,098 (GRCm39) V68A probably benign Het
Acnat1 G A 4: 49,449,181 (GRCm39) A195V possibly damaging Het
Acsl3 C T 1: 78,681,305 (GRCm39) A612V probably benign Het
Adam12 A T 7: 133,599,961 (GRCm39) D115E probably benign Het
Adam3 T A 8: 25,197,513 (GRCm39) probably null Het
Aif1 G A 17: 35,391,600 (GRCm39) probably benign Het
Ank3 A G 10: 69,824,139 (GRCm39) D154G probably damaging Het
Arid3b A G 9: 57,717,442 (GRCm39) C233R probably benign Het
Ccdc7b T A 8: 129,799,146 (GRCm39) D74E unknown Het
Cckbr T A 7: 105,084,557 (GRCm39) D430E probably benign Het
Chpf T C 1: 75,451,939 (GRCm39) H667R probably benign Het
Dnah8 A G 17: 30,931,263 (GRCm39) E1426G probably benign Het
Dync1h1 A G 12: 110,609,590 (GRCm39) I2791V probably benign Het
Ehd3 A G 17: 74,123,387 (GRCm39) N130S probably benign Het
Fgfr4 A G 13: 55,306,964 (GRCm39) T218A probably benign Het
Foxe1 G A 4: 46,344,599 (GRCm39) E136K possibly damaging Het
Frmpd1 A G 4: 45,284,478 (GRCm39) S1100G probably benign Het
Gask1b G A 3: 79,793,591 (GRCm39) A20T probably benign Het
Gm21886 T G 18: 80,132,972 (GRCm39) Q62P probably null Het
Golga4 A G 9: 118,385,434 (GRCm39) E852G probably damaging Het
Gprin3 T C 6: 59,330,696 (GRCm39) D537G probably benign Het
Gpx5 C A 13: 21,472,918 (GRCm39) D139Y probably damaging Het
Hmcn1 T C 1: 150,468,940 (GRCm39) Y5007C probably damaging Het
Igsf10 G A 3: 59,235,832 (GRCm39) R1450* probably null Het
Kif21a G A 15: 90,840,517 (GRCm39) P1200S probably damaging Het
Kmt2c G A 5: 25,505,109 (GRCm39) R3400C probably damaging Het
Miox A C 15: 89,220,742 (GRCm39) M216L probably benign Het
Mphosph9 T C 5: 124,428,967 (GRCm39) Y687C probably damaging Het
Mxi1 T A 19: 53,299,192 (GRCm39) V21D probably benign Het
Nbeal1 T C 1: 60,299,591 (GRCm39) L1309P probably benign Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or10ag54 A T 2: 87,099,421 (GRCm39) T99S possibly damaging Het
Or13c25 C T 4: 52,911,663 (GRCm39) V44I probably benign Het
Or4c100 G A 2: 88,356,289 (GRCm39) V121I probably benign Het
Or7g22 T C 9: 19,049,141 (GRCm39) M284T possibly damaging Het
Polq A G 16: 36,848,244 (GRCm39) T284A probably damaging Het
Polrmt A T 10: 79,577,714 (GRCm39) M295K probably damaging Het
Pou2af1 G T 9: 51,144,297 (GRCm39) M70I probably damaging Het
Pou3f1 G A 4: 124,552,232 (GRCm39) E245K probably damaging Het
Psmb1 C T 17: 15,714,748 (GRCm39) V50I probably benign Het
R3hdm2 A G 10: 127,334,443 (GRCm39) I955M probably benign Het
Rasef G A 4: 73,677,935 (GRCm39) T97I probably benign Het
Rasef T C 4: 73,709,201 (GRCm39) T11A probably benign Het
Sema4c C A 1: 36,588,995 (GRCm39) L710F probably damaging Het
Slc39a10 C T 1: 46,851,328 (GRCm39) A721T probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Spata31d1a A G 13: 59,848,139 (GRCm39) C1330R possibly damaging Het
Susd1 T C 4: 59,349,915 (GRCm39) D560G possibly damaging Het
Tnfrsf1b T C 4: 144,955,660 (GRCm39) Y32C probably damaging Het
Trhr2 C A 8: 123,084,083 (GRCm39) V306F probably damaging Het
Trpm6 A T 19: 18,754,074 (GRCm39) Q35L probably benign Het
Ttbk2 A G 2: 120,616,510 (GRCm39) S197P probably damaging Het
Uggt2 T A 14: 119,280,059 (GRCm39) E806D probably benign Het
Ushbp1 T G 8: 71,841,422 (GRCm39) Q469P possibly damaging Het
Vmn1r73 G A 7: 11,491,036 (GRCm39) V285I possibly damaging Het
Zfp934 A C 13: 62,668,003 (GRCm39) S63R probably benign Het
Other mutations in Ptgis
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01562:Ptgis APN 2 167,048,750 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TATGCGCAGTTGGACAGACAG -3'
(R):5'- ACCCTGGATCCATACAGAGG -3'

Sequencing Primer
(F):5'- ACAGAGGGACAGTCAGCCTC -3'
(R):5'- GAGATAAAGCCACTGTCCTCCTG -3'
Posted On 2019-12-20