Incidental Mutation 'R4564:Ptgir'
ID |
343241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptgir
|
Ensembl Gene |
ENSMUSG00000043017 |
Gene Name |
prostaglandin I receptor (IP) |
Synonyms |
IP, prostacyclin receptor |
MMRRC Submission |
041789-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4564 (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
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: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
97% (58/60) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad3a |
C |
T |
4: 155,831,766 (GRCm39) |
|
probably null |
Het |
Bach2 |
T |
G |
4: 32,563,338 (GRCm39) |
S602A |
probably damaging |
Het |
Ccl19 |
G |
T |
4: 42,756,295 (GRCm39) |
S12R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,675,402 (GRCm39) |
|
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
Cnot3 |
G |
A |
7: 3,656,257 (GRCm39) |
R181H |
probably damaging |
Het |
Dicer1 |
T |
A |
12: 104,671,010 (GRCm39) |
K1011* |
probably null |
Het |
Dip2b |
G |
A |
15: 100,055,139 (GRCm39) |
W99* |
probably null |
Het |
Fpr-rs6 |
A |
T |
17: 20,403,168 (GRCm39) |
Y64* |
probably null |
Het |
Fubp1 |
C |
A |
3: 151,928,573 (GRCm39) |
Y480* |
probably null |
Het |
Gfra1 |
T |
C |
19: 58,227,682 (GRCm39) |
|
probably null |
Het |
Gm10770 |
T |
C |
2: 150,020,831 (GRCm39) |
T229A |
probably benign |
Het |
Gm826 |
A |
C |
2: 160,153,913 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,197,095 (GRCm39) |
V217I |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,488,494 (GRCm39) |
I3595T |
probably benign |
Het |
Lmln |
A |
G |
16: 32,930,226 (GRCm39) |
E561G |
probably benign |
Het |
Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
A |
7: 80,018,586 (GRCm39) |
Y91F |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,028,135 (GRCm39) |
T319A |
probably damaging |
Het |
Mcm6 |
G |
T |
1: 128,271,196 (GRCm39) |
H474Q |
probably damaging |
Het |
Mn1 |
C |
G |
5: 111,568,533 (GRCm39) |
N834K |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Niban3 |
T |
C |
8: 72,057,704 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
G |
1: 39,326,647 (GRCm39) |
D44G |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,324,789 (GRCm39) |
G1235R |
probably damaging |
Het |
Olfml2a |
C |
T |
2: 38,850,306 (GRCm39) |
T674I |
probably benign |
Het |
Or4f58 |
A |
G |
2: 111,852,112 (GRCm39) |
L29P |
possibly damaging |
Het |
Pgap6 |
A |
G |
17: 26,336,837 (GRCm39) |
R252G |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,942,488 (GRCm39) |
A1779V |
probably benign |
Het |
Ppil3 |
T |
A |
1: 58,470,481 (GRCm39) |
D123V |
probably damaging |
Het |
Prr23a3 |
A |
G |
9: 98,747,190 (GRCm39) |
E48G |
probably damaging |
Het |
Prr5l |
T |
C |
2: 101,577,094 (GRCm39) |
E110G |
probably damaging |
Het |
R3hdm1 |
C |
T |
1: 128,149,396 (GRCm39) |
T839M |
probably benign |
Het |
Rasgrf2 |
G |
A |
13: 92,033,773 (GRCm39) |
Q544* |
probably null |
Het |
Riok3 |
C |
A |
18: 12,281,936 (GRCm39) |
R302S |
probably damaging |
Het |
Rnf145 |
A |
G |
11: 44,439,635 (GRCm39) |
K144E |
probably benign |
Het |
Sin3b |
A |
C |
8: 73,480,209 (GRCm39) |
T904P |
probably damaging |
Het |
Skint4 |
C |
T |
4: 111,977,066 (GRCm39) |
T152M |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,828,943 (GRCm39) |
I350V |
probably benign |
Het |
Slc6a11 |
G |
T |
6: 114,108,323 (GRCm39) |
G29V |
probably benign |
Het |
Speg |
A |
C |
1: 75,368,478 (GRCm39) |
H676P |
probably damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,648 (GRCm39) |
H227Q |
probably damaging |
Het |
Strn3 |
A |
G |
12: 51,680,404 (GRCm39) |
S399P |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,809,961 (GRCm39) |
L1119P |
possibly damaging |
Het |
Upf2 |
A |
C |
2: 6,032,123 (GRCm39) |
T890P |
unknown |
Het |
Upk1b |
T |
A |
16: 38,600,469 (GRCm39) |
K170N |
probably benign |
Het |
Vmn1r78 |
A |
T |
7: 11,886,485 (GRCm39) |
Y32F |
probably damaging |
Het |
Vps11 |
A |
G |
9: 44,272,894 (GRCm39) |
F12S |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,723,741 (GRCm39) |
C1915S |
possibly damaging |
Het |
Zfp346 |
A |
C |
13: 55,261,520 (GRCm39) |
R103S |
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 |
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 |
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'- TTCGAGCATAGGCCACAAAC -3'
Sequencing Primer
(F):5'- CAGGGAACACTGAGGCAC -3'
(R):5'- AACACTGCAGGGCTCAAG -3'
|
Posted On |
2015-09-24 |