Incidental Mutation 'R4563:Ptgir'
ID 343195
Institutional Source Beutler Lab
Gene Symbol Ptgir
Ensembl Gene ENSMUSG00000043017
Gene Name prostaglandin I receptor (IP)
Synonyms IP, prostacyclin receptor
MMRRC Submission 041788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4563 (G1)
Quality Score 189
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,382,089 (GRCm39) C591R probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Calm5 C A 13: 3,904,402 (GRCm39) S32* probably null Het
Ccdc198 T A 14: 49,471,955 (GRCm39) M152L probably benign Het
Cln3 G T 7: 126,171,730 (GRCm39) S346R probably damaging Het
G6pd2 G A 5: 61,967,686 (GRCm39) R487H possibly damaging Het
Glipr2 A T 4: 43,977,600 (GRCm39) N77Y probably damaging Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Kbtbd2 A G 6: 56,766,264 (GRCm39) V37A probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Mcm3 G T 1: 20,879,869 (GRCm39) R543S probably benign Het
Mgat4a T C 1: 37,505,660 (GRCm39) D43G probably damaging Het
Mphosph8 T C 14: 56,928,457 (GRCm39) Y703H probably benign Het
Ncf2 T C 1: 152,683,976 (GRCm39) probably benign Het
Nek6 T G 2: 38,475,305 (GRCm39) V282G probably damaging Het
Nhlrc1 T C 13: 47,167,666 (GRCm39) D197G possibly damaging Het
Nup93 G T 8: 95,034,520 (GRCm39) V612F probably damaging Het
Or5be3 C T 2: 86,864,028 (GRCm39) C179Y probably damaging Het
Or9i14 A G 19: 13,792,646 (GRCm39) F103L probably benign Het
Pafah1b2 T C 9: 45,887,404 (GRCm39) K36E probably damaging Het
Paqr9 A G 9: 95,442,997 (GRCm39) E329G probably benign Het
Pclo A G 5: 14,571,383 (GRCm39) Q256R probably damaging Het
Pctp A T 11: 89,879,578 (GRCm39) D94E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pex14 A T 4: 149,126,225 (GRCm39) V41D probably damaging Het
Rasal2 T C 1: 157,003,561 (GRCm39) K366R probably damaging Het
Rprd1a A C 18: 24,640,160 (GRCm39) probably null Het
Senp8 A C 9: 59,657,546 (GRCm39) M1R probably null Het
Slc49a4 T C 16: 35,518,312 (GRCm39) Y467C probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Strc T C 2: 121,196,286 (GRCm39) T1581A probably benign Het
Tmem117 T C 15: 94,536,035 (GRCm39) I23T possibly damaging Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Ube4b A G 4: 149,443,622 (GRCm39) probably benign Het
Vmn1r125 A G 7: 21,006,308 (GRCm39) T69A probably 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
R2162: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
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 2015-09-24