Incidental Mutation 'R2866:Ptgir'
ID |
253242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptgir
|
Ensembl Gene |
ENSMUSG00000043017 |
Gene Name |
prostaglandin I receptor (IP) |
Synonyms |
IP, prostacyclin receptor |
MMRRC Submission |
040455-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R2866 (G1)
|
Quality Score |
184 |
Status
|
Not 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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
probably damaging |
Het |
|
Other mutations in Ptgir |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- CAAACACTGCAGGGCTCAAG -3'
Sequencing Primer
(F):5'- CAGGGAACACTGAGGCAC -3'
(R):5'- TCAAGAAGCACGTGCCCAG -3'
|
Posted On |
2014-12-04 |