Incidental Mutation 'R4092:Ptgir'
| ID |
317666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptgir
|
| Ensembl Gene |
ENSMUSG00000043017 |
| Gene Name |
prostaglandin I receptor (IP) |
| Synonyms |
IP, prostacyclin receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16640442-16644828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16640932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
| 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 |
probably benign
Transcript: ENSMUST00000086101
|
| SMART Domains |
Protein: ENSMUSP00000083270
Gene: ENSMUSG00000043017
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
100 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144408
AA Change: S75P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122080
Gene: ENSMUSG00000043017
AA Change: S75P
| 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 |
0.6883 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,055,903 (GRCm39) |
H340Q |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
| Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
| Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
| Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
| Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
| Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
| Efl1 |
A |
G |
7: 82,412,035 (GRCm39) |
E808G |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
| Fbp2 |
C |
T |
13: 62,988,174 (GRCm39) |
V246M |
possibly damaging |
Het |
| Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
| Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
| Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
| Noc2l |
A |
C |
4: 156,327,033 (GRCm39) |
T295P |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
| Paip1 |
T |
G |
13: 119,586,449 (GRCm39) |
S58A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
| Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
| Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
| Srgap3 |
G |
T |
6: 112,700,045 (GRCm39) |
P1002T |
probably benign |
Het |
| Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
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 |
|
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 |
|
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'- CCTATGAAGATGATGGCCAGCG -3'
(R):5'- TCCACAGCCATGGCAAAGAG -3'
Sequencing Primer
(F):5'- AGCGATGGACATCCTGGAC -3'
(R):5'- CCATGGCAAAGAGGATGAGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation