Incidental Mutation 'R3956:Ptgir'
| ID |
310694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgir
|
| Ensembl Gene |
ENSMUSG00000043017 |
| Gene Name |
prostaglandin I receptor (IP) |
| Synonyms |
IP, prostacyclin receptor |
| MMRRC Submission |
040833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3956 (G1)
|
| Quality Score |
224 |
|
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,975 (GRCm39) |
N1221S |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,987,495 (GRCm39) |
L693Q |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| B3gat1 |
A |
G |
9: 26,668,324 (GRCm39) |
T305A |
possibly damaging |
Het |
| BC051076 |
A |
G |
5: 88,112,110 (GRCm39) |
|
noncoding transcript |
Het |
| Ccni |
A |
G |
5: 93,331,263 (GRCm39) |
L236S |
probably damaging |
Het |
| Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
| Cdc45 |
A |
G |
16: 18,624,180 (GRCm39) |
V119A |
probably benign |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Creld1 |
A |
G |
6: 113,469,190 (GRCm39) |
D340G |
possibly damaging |
Het |
| Cyrib |
T |
C |
15: 63,813,823 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,374,847 (GRCm39) |
I1417L |
probably benign |
Het |
| Efhc1 |
A |
C |
1: 21,048,890 (GRCm39) |
K434N |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,241,358 (GRCm39) |
V297A |
possibly damaging |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Gfod1 |
A |
T |
13: 43,354,538 (GRCm39) |
C146S |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,732,300 (GRCm39) |
P1554T |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,765,931 (GRCm39) |
I88F |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,701,023 (GRCm39) |
T121A |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,916,848 (GRCm39) |
F194Y |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,441,138 (GRCm39) |
V504E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,091,975 (GRCm39) |
V5030M |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Or5ac17 |
G |
A |
16: 59,036,428 (GRCm39) |
Q183* |
probably null |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5al5 |
C |
T |
2: 85,961,363 (GRCm39) |
V215I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,256,801 (GRCm39) |
S502G |
probably benign |
Het |
| Prb1c |
G |
T |
6: 132,338,814 (GRCm39) |
Q135K |
unknown |
Het |
| Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,276,031 (GRCm39) |
Y242* |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,758,755 (GRCm39) |
Y672S |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,835,991 (GRCm39) |
H343R |
probably damaging |
Het |
| Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
| Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
A |
G |
6: 70,890,469 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tlcd5 |
C |
A |
9: 43,022,808 (GRCm39) |
C182F |
probably damaging |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,742,525 (GRCm39) |
T214S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,221,837 (GRCm39) |
T1280A |
probably benign |
Het |
| Xpnpep3 |
A |
G |
15: 81,335,230 (GRCm39) |
|
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 |
|
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 |
|
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'- TTTCGAGCATAGGCCACAAAC -3'
Sequencing Primer
(F):5'- CAGGGAACACTGAGGCAC -3'
(R):5'- AACACTGCAGGGCTCAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation