Incidental Mutation 'R2512:Ptgis'
ID 253386
Institutional Source Beutler Lab
Gene Symbol Ptgis
Ensembl Gene ENSMUSG00000017969
Gene Name prostaglandin I2 (prostacyclin) synthase
Synonyms Cyp8a1, Pgi2, Pgis
MMRRC Submission 040418-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2512 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167033725-167082524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167049196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 372 (D372G)
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: D372G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: D372G

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: D372G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: D372G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,219,945 (GRCm39) T831A possibly damaging Het
Actg2 T A 6: 83,503,829 (GRCm39) I72F probably damaging Het
Add1 A G 5: 34,774,030 (GRCm39) T80A probably benign Het
Alpk2 G A 18: 65,483,591 (GRCm39) T139M probably damaging Het
Aplp2 C T 9: 31,078,973 (GRCm39) R325H probably damaging Het
Aptx G A 4: 40,694,917 (GRCm39) P140S probably benign Het
Carm1 A G 9: 21,486,708 (GRCm39) probably null Het
Carmil2 A T 8: 106,424,025 (GRCm39) I1293F probably benign Het
Cdh8 T C 8: 100,127,495 (GRCm39) T39A probably benign Het
Cimip3 T C 17: 47,724,651 (GRCm39) T60A probably benign Het
Col15a1 T A 4: 47,245,868 (GRCm39) N206K possibly damaging Het
Copg2 C T 6: 30,873,591 (GRCm39) probably null Het
Ctr9 T G 7: 110,646,078 (GRCm39) I690S probably damaging Het
Dcaf8 T G 1: 172,016,602 (GRCm39) I463S possibly damaging Het
Dcp1b G T 6: 119,183,473 (GRCm39) A187S possibly damaging Het
Ddo T A 10: 40,508,935 (GRCm39) D58E possibly damaging Het
Dkkl1 G T 7: 44,857,157 (GRCm39) R137S probably damaging Het
Dxo A G 17: 35,056,718 (GRCm39) N115S probably benign Het
Ep400 A T 5: 110,856,781 (GRCm39) probably benign Het
F11 A G 8: 45,714,098 (GRCm39) V7A probably benign Het
Fermt1 G T 2: 132,781,438 (GRCm39) probably null Het
Fign A T 2: 63,810,143 (GRCm39) F376I probably benign Het
Flg2 G T 3: 93,109,082 (GRCm39) G370V probably damaging Het
Fndc3a A T 14: 72,793,715 (GRCm39) D953E probably benign Het
Fsip2 A T 2: 82,808,511 (GRCm39) H1610L probably benign Het
Gfra3 T C 18: 34,837,564 (GRCm39) N145D probably benign Het
Inpp4b G T 8: 82,737,179 (GRCm39) W525C probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lgi2 A G 5: 52,695,307 (GRCm39) *543R probably null Het
Lyn A G 4: 3,745,542 (GRCm39) T114A probably benign Het
Lynx1 A G 15: 74,623,169 (GRCm39) Y88H probably damaging Het
Map4 C A 9: 109,863,770 (GRCm39) P332T possibly damaging Het
Mapk8ip3 A T 17: 25,133,677 (GRCm39) C250* probably null Het
Metap1d A G 2: 71,352,954 (GRCm39) H261R probably damaging Het
Mfrp T C 9: 44,013,835 (GRCm39) V115A probably benign Het
Mtbp A G 15: 55,440,932 (GRCm39) Y373C probably damaging Het
Mtor C A 4: 148,614,948 (GRCm39) R1628S possibly damaging Het
Muc5b A G 7: 141,412,813 (GRCm39) N1920D unknown Het
Myo1d T A 11: 80,670,543 (GRCm39) M26L probably benign Het
Neb A C 2: 52,100,843 (GRCm39) D643E probably damaging Het
Nme1 A G 11: 93,851,513 (GRCm39) F108L possibly damaging Het
Or2r11 A G 6: 42,437,207 (GRCm39) S249P probably damaging Het
Or8c15 G T 9: 38,120,670 (GRCm39) C54F probably damaging Het
Pan2 T A 10: 128,140,326 (GRCm39) D82E probably damaging Het
Pclo A G 5: 14,762,612 (GRCm39) D3695G unknown Het
Pcnx4 A T 12: 72,603,573 (GRCm39) probably null Het
Plg A G 17: 12,622,116 (GRCm39) T479A probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Pramel32 T G 4: 88,547,195 (GRCm39) M246L probably damaging Het
Ranbp3l A G 15: 8,997,949 (GRCm39) T14A probably benign Het
Rcc1l A T 5: 134,195,508 (GRCm39) V230D probably damaging Het
Reln T C 5: 22,184,688 (GRCm39) D1609G possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr1 G A 7: 28,802,967 (GRCm39) L696F possibly damaging Het
Sacs T A 14: 61,440,529 (GRCm39) D858E probably benign Het
Sec16a C T 2: 26,329,037 (GRCm39) V993I probably benign Het
Skint5 T A 4: 113,487,616 (GRCm39) I901F unknown Het
Slc17a3 A T 13: 24,030,230 (GRCm39) I114F probably benign Het
Slc17a7 T A 7: 44,818,288 (GRCm39) L71Q probably damaging Het
Slc43a2 T C 11: 75,461,403 (GRCm39) S452P probably damaging Het
Smarca4 A G 9: 21,546,994 (GRCm39) N173S possibly damaging Het
Tbc1d21 T C 9: 58,270,195 (GRCm39) Y161C probably damaging Het
Tpsab1 C A 17: 25,564,081 (GRCm39) C94F probably damaging Het
Ubr5 G A 15: 38,002,563 (GRCm39) P1496L probably damaging Het
Unc80 G T 1: 66,710,767 (GRCm39) A2679S possibly damaging Het
Vdac1 T A 11: 52,274,904 (GRCm39) V184E probably damaging Het
Vmn2r24 T A 6: 123,763,985 (GRCm39) S287R probably benign Het
Vmn2r91 T C 17: 18,356,048 (GRCm39) F572L probably benign Het
Vps13b G A 15: 35,884,701 (GRCm39) E3125K probably benign Het
Ythdf3 A G 3: 16,259,059 (GRCm39) N406S possibly damaging Het
Zfp708 T C 13: 67,219,251 (GRCm39) K158E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TACACCCGGTTACCACTCAG -3'
(R):5'- TACAAGGTACACACCCTCTGGTC -3'

Sequencing Primer
(F):5'- GTTACCACTCAGGGCTGACTAAAG -3'
(R):5'- CCTTGCTCTGTTAAACAAGAACGGG -3'
Posted On 2014-12-04