Incidental Mutation 'IGL01965:Ptgis'
| ID |
182502 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptgis
|
| Ensembl Gene |
ENSMUSG00000017969 |
| Gene Name |
prostaglandin I2 (prostacyclin) synthase |
| Synonyms |
Cyp8a1, Pgi2, Pgis |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
167033725-167082524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 167050173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 319
(W319R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018113]
[ENSMUST00000088041]
|
| AlphaFold |
O35074 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018113
AA Change: W319R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018113
Gene: ENSMUSG00000017969
AA Change: W319R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
495 |
8.6e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088041
AA Change: W319R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969
AA Change: W319R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
496 |
1.9e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136271
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased blood urea nitrogen and creatinine levels, thickening of the aorta with age, mildly increased blood pressure, and kidney abnormalities including cysts, fibrosis, necrosis, and renal vascular congestion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly damaging |
Het |
|
| Other mutations in Ptgis |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01562:Ptgis
|
APN |
2 |
167,048,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Ptgis
|
APN |
2 |
167,056,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02102:Ptgis
|
APN |
2 |
167,067,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02296:Ptgis
|
APN |
2 |
167,048,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02434:Ptgis
|
APN |
2 |
167,082,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4142001:Ptgis
|
UTSW |
2 |
167,048,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0332:Ptgis
|
UTSW |
2 |
167,056,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0614:Ptgis
|
UTSW |
2 |
167,048,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Ptgis
|
UTSW |
2 |
167,033,888 (GRCm39) |
unclassified |
probably benign |
|
|
R1756:Ptgis
|
UTSW |
2 |
167,048,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Ptgis
|
UTSW |
2 |
167,056,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2004:Ptgis
|
UTSW |
2 |
167,056,769 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2019:Ptgis
|
UTSW |
2 |
167,056,730 (GRCm39) |
nonsense |
probably null |
|
|
R2019:Ptgis
|
UTSW |
2 |
167,050,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Ptgis
|
UTSW |
2 |
167,049,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2679:Ptgis
|
UTSW |
2 |
167,050,113 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4962:Ptgis
|
UTSW |
2 |
167,067,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5174:Ptgis
|
UTSW |
2 |
167,045,390 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5471:Ptgis
|
UTSW |
2 |
167,066,039 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5717:Ptgis
|
UTSW |
2 |
167,050,284 (GRCm39) |
splice site |
probably benign |
|
|
R7268:Ptgis
|
UTSW |
2 |
167,048,676 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7513:Ptgis
|
UTSW |
2 |
167,067,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Ptgis
|
UTSW |
2 |
167,048,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7615:Ptgis
|
UTSW |
2 |
167,065,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Ptgis
|
UTSW |
2 |
167,033,891 (GRCm39) |
missense |
unknown |
|
|
R7891:Ptgis
|
UTSW |
2 |
167,069,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation