Incidental Mutation 'R4551:Ptgir'
ID 333953
Institutional Source Beutler Lab
Gene Symbol Ptgir
Ensembl Gene ENSMUSG00000043017
Gene Name prostaglandin I receptor (IP)
Synonyms IP, prostacyclin receptor
MMRRC Submission 041782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4551 (G1)
Quality Score 203
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: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (71/71)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T G 11: 119,902,395 (GRCm39) E610A probably benign Het
Abhd17b T C 19: 21,658,290 (GRCm39) S176P possibly damaging Het
Adgrg7 A G 16: 56,568,375 (GRCm39) Y427H probably damaging Het
Alox15 T A 11: 70,235,422 (GRCm39) I647L probably benign Het
Ankhd1 C A 18: 36,788,560 (GRCm39) probably null Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Cog6 T A 3: 52,905,741 (GRCm39) E96V probably damaging Het
Cox20 A C 1: 178,150,114 (GRCm39) N96T probably benign Het
Cpa3 T C 3: 20,273,934 (GRCm39) I351V probably benign Het
Cpd C T 11: 76,702,712 (GRCm39) G552D probably damaging Het
Cyld A G 8: 89,433,762 (GRCm39) K184E possibly damaging Het
Dab2 G A 15: 6,464,775 (GRCm39) G324D probably damaging Het
Depdc1a T A 3: 159,228,221 (GRCm39) D324E probably damaging Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dync1i1 T A 6: 5,923,206 (GRCm39) D275E probably benign Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Farp2 T A 1: 93,546,314 (GRCm39) L868Q possibly damaging Het
Gpr45 A G 1: 43,071,950 (GRCm39) T198A probably benign Het
Grk2 C T 19: 4,336,084 (GRCm39) V402M possibly damaging Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Gtf2h3 A G 5: 124,728,482 (GRCm39) probably benign Het
Hus1b C A 13: 31,131,059 (GRCm39) S200I probably damaging Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ikbke T C 1: 131,185,770 (GRCm39) probably benign Het
Kat6b A G 14: 21,711,516 (GRCm39) E670G probably damaging Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Lhx3 G A 2: 26,091,202 (GRCm39) P369L probably damaging Het
Man2c1 T C 9: 57,038,445 (GRCm39) L35P probably damaging Het
Mical2 T A 7: 111,981,123 (GRCm39) S366T possibly damaging Het
Mroh9 A T 1: 162,871,662 (GRCm39) I607N probably damaging Het
Mybphl T C 3: 108,281,479 (GRCm39) I65T possibly damaging Het
Myo1g A G 11: 6,467,874 (GRCm39) I187T probably damaging Het
Myo7b T C 18: 32,118,161 (GRCm39) S822G probably benign Het
Nkx2-4 C A 2: 146,926,842 (GRCm39) A142S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or12k7 G T 2: 36,958,355 (GRCm39) V13L probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or56b1 A T 7: 104,285,631 (GRCm39) H250L probably damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pcdhb16 T C 18: 37,612,887 (GRCm39) F616L probably damaging Het
Pdk3 A T X: 92,825,846 (GRCm39) M253K probably damaging Het
Pgap2 C A 7: 101,875,674 (GRCm39) probably benign Het
Pkhd1l1 C A 15: 44,414,281 (GRCm39) N2849K probably damaging Het
Pprc1 A G 19: 46,055,664 (GRCm39) probably benign Het
Psma2 A G 13: 14,791,430 (GRCm39) Y25C possibly damaging Het
Ptpn5 C A 7: 46,740,600 (GRCm39) probably benign Het
Pxn G T 5: 115,690,779 (GRCm39) probably benign Het
Scd3 C A 19: 44,203,878 (GRCm39) A22E probably benign Het
Sdr42e1 T C 8: 118,390,347 (GRCm39) E98G probably benign Het
Slc14a2 A C 18: 78,239,068 (GRCm39) S184A probably benign Het
Tmem236 A T 2: 14,223,964 (GRCm39) Q251L probably benign Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Vmn1r90 A C 7: 14,295,894 (GRCm39) M68R possibly damaging Het
Vmn2r105 A G 17: 20,446,613 (GRCm39) V462A probably benign Het
Vmn2r7 T C 3: 64,598,110 (GRCm39) T816A possibly damaging Het
Vmn2r81 T A 10: 79,104,241 (GRCm39) I288K possibly damaging Het
Zfp180 A C 7: 23,803,998 (GRCm39) K139T possibly damaging Het
Zfp932 T C 5: 110,157,505 (GRCm39) V401A probably benign 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
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'- TAGGCCACAAACACTGCAGG -3'

Sequencing Primer
(F):5'- CAGGGAACACTGAGGCAC -3'
(R):5'- AACACTGCAGGGCTCAAG -3'
Posted On 2015-08-18