Incidental Mutation 'R2162:Ptgir'
ID 235205
Institutional Source Beutler Lab
Gene Symbol Ptgir
Ensembl Gene ENSMUSG00000043017
Gene Name prostaglandin I receptor (IP)
Synonyms IP, prostacyclin receptor
MMRRC Submission 040165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R2162 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16640442-16644828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16640794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 29 (M29V)
Ref Sequence ENSEMBL: ENSMUSP00000122080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086101] [ENSMUST00000144408]
AlphaFold P43252
PDB Structure Molecular analysis of the interaction between the prostacyclin receptor and the first PDZ domain of PDZK1 [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000086101
AA Change: M29V
SMART Domains Protein: ENSMUSP00000083270
Gene: ENSMUSG00000043017
AA Change: M29V

DomainStartEndE-ValueType
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 100 119 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144408
AA Change: M29V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122080
Gene: ENSMUSG00000043017
AA Change: M29V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 49 291 2.6e-11 PFAM
Pfam:7tm_1 58 319 1.2e-21 PFAM
Meta Mutation Damage Score 0.7286 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased susceptibility to thrombosis and injury-induced vascular proliferation, and decreased inflammatory and pain responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Ankrd28 T C 14: 31,430,719 (GRCm39) D850G probably damaging Het
Arhgap45 T C 10: 79,852,813 (GRCm39) M1T probably null Het
Atp6v0a4 T G 6: 38,065,581 (GRCm39) K128N possibly damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Clca4b T C 3: 144,634,348 (GRCm39) I82V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Eng C T 2: 32,569,059 (GRCm39) R528C probably damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Hlx T A 1: 184,462,889 (GRCm39) probably null Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Il36rn G T 2: 24,169,692 (GRCm39) L17F probably damaging Het
Itga1 C T 13: 115,167,446 (GRCm39) V157I probably benign Het
Krtap19-3 T G 16: 88,674,607 (GRCm39) *88C probably null Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh7 G C 4: 106,557,378 (GRCm39) S777R probably damaging Het
Nrxn1 G A 17: 90,469,859 (GRCm39) R35C probably damaging Het
Or12e10 T A 2: 87,640,704 (GRCm39) I180K probably damaging Het
Or51v8 T G 7: 103,320,079 (GRCm39) Q53P possibly damaging Het
Or5p69 C A 7: 107,966,769 (GRCm39) P24Q probably benign Het
Pacs2 A G 12: 113,014,567 (GRCm39) T243A probably benign Het
Pan2 A G 10: 128,140,091 (GRCm39) E4G possibly damaging Het
Pdp1 A G 4: 11,961,123 (GRCm39) V396A probably damaging Het
Pdzd7 A G 19: 45,024,494 (GRCm39) probably null Het
Peg10 T A 6: 4,755,914 (GRCm39) probably benign Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r9b T C 11: 94,888,877 (GRCm39) L97P probably damaging Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scn9a T A 2: 66,364,573 (GRCm39) Y789F probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Spata31g1 A G 4: 42,972,238 (GRCm39) T524A possibly damaging Het
Sptan1 T C 2: 29,908,588 (GRCm39) probably benign Het
Srrd G T 5: 112,490,810 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Usp43 A G 11: 67,770,795 (GRCm39) L613P probably damaging Het
Vmn1r167 T C 7: 23,204,224 (GRCm39) D264G possibly damaging Het
Whamm A G 7: 81,221,089 (GRCm39) D7G probably damaging Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp280d T A 9: 72,206,104 (GRCm39) I62K probably damaging Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zfp516 A G 18: 83,005,063 (GRCm39) R656G possibly damaging Het
Other mutations in Ptgir
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Ptgir APN 7 16,641,409 (GRCm39) missense possibly damaging 0.76
IGL02928:Ptgir APN 7 16,642,923 (GRCm39) missense possibly damaging 0.74
IGL02950:Ptgir APN 7 16,641,526 (GRCm39) missense probably damaging 1.00
R1104:Ptgir UTSW 7 16,641,055 (GRCm39) splice site probably null
R2159:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R2161:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R2184:Ptgir UTSW 7 16,642,708 (GRCm39) missense probably damaging 1.00
R2866:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R3845:Ptgir UTSW 7 16,641,311 (GRCm39) missense probably damaging 0.99
R3953:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R3955:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R3956:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R3957:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4092:Ptgir UTSW 7 16,640,932 (GRCm39) missense probably damaging 1.00
R4245:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4354:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4551:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4563:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4564:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4657:Ptgir UTSW 7 16,641,071 (GRCm39) missense probably benign 0.00
R4670:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4671:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R4825:Ptgir UTSW 7 16,642,768 (GRCm39) missense probably damaging 1.00
R4835:Ptgir UTSW 7 16,640,794 (GRCm39) missense possibly damaging 0.88
R5179:Ptgir UTSW 7 16,641,253 (GRCm39) missense probably damaging 1.00
R5226:Ptgir UTSW 7 16,642,645 (GRCm39) missense probably damaging 1.00
R6039:Ptgir UTSW 7 16,640,815 (GRCm39) missense possibly damaging 0.64
R6039:Ptgir UTSW 7 16,640,815 (GRCm39) missense possibly damaging 0.64
R7311:Ptgir UTSW 7 16,640,973 (GRCm39) missense probably damaging 1.00
R7650:Ptgir UTSW 7 16,640,876 (GRCm39) missense possibly damaging 0.95
R8673:Ptgir UTSW 7 16,641,287 (GRCm39) missense probably damaging 0.99
R8992:Ptgir UTSW 7 16,641,220 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGCTGGAGGGTCTAGAAAGC -3'
(R):5'- ACACTGCAGGGCTCAAGAAG -3'

Sequencing Primer
(F):5'- CAGGGAACACTGAGGCAC -3'
(R):5'- TCAAGAAGCACGTGCCCAG -3'
Posted On 2014-10-01