Incidental Mutation 'R2161:Ptgir'
ID |
235149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptgir
|
Ensembl Gene |
ENSMUSG00000043017 |
Gene Name |
prostaglandin I receptor (IP) |
Synonyms |
IP, prostacyclin receptor |
MMRRC Submission |
040164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2161 (G1)
|
Quality Score |
122 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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 |
Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
probably benign |
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 |
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 |
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 |
2014-10-01 |