Incidental Mutation 'IGL03238:P2ry1'
| ID |
414173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
P2ry1
|
| Ensembl Gene |
ENSMUSG00000027765 |
| Gene Name |
purinergic receptor P2Y, G-protein coupled 1 |
| Synonyms |
P2Y1, P2y1r, P2Y1 receptor |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
IGL03238
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
60910216-60916403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60911916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 352
(S352T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029331]
[ENSMUST00000193201]
[ENSMUST00000193943]
|
| AlphaFold |
P49650 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029331
AA Change: S352T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: S352T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
68 |
324 |
4.8e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193201
AA Change: S352T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: S352T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
68 |
324 |
7.2e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193943
AA Change: S352T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: S352T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
68 |
324 |
7.2e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194809
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either one of two independently generated knock-out alleles exhibit decreased platelet aggregation, increased bleeding time, and resistance to induced thromboembolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
C |
3: 59,932,339 (GRCm39) |
T285P |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,274,215 (GRCm39) |
K186E |
probably damaging |
Het |
| Adam3 |
T |
C |
8: 25,177,981 (GRCm39) |
|
probably null |
Het |
| Art1 |
T |
C |
7: 101,759,956 (GRCm39) |
V85A |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,859 (GRCm39) |
H250R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,897,151 (GRCm39) |
I388F |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,073,633 (GRCm39) |
V1425M |
probably damaging |
Het |
| Donson |
G |
A |
16: 91,478,134 (GRCm39) |
Q22* |
probably null |
Het |
| Eif2b2 |
A |
G |
12: 85,270,173 (GRCm39) |
T238A |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,371,249 (GRCm39) |
|
probably null |
Het |
| Fkbp4 |
A |
T |
6: 128,411,720 (GRCm39) |
V123E |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,563,682 (GRCm39) |
M275K |
possibly damaging |
Het |
| Gcat |
T |
A |
15: 78,920,210 (GRCm39) |
|
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,063,748 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,303,646 (GRCm39) |
V169E |
probably damaging |
Het |
| Klra17 |
T |
C |
6: 129,845,773 (GRCm39) |
H147R |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,830,367 (GRCm39) |
I1880T |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,446 (GRCm39) |
D234G |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,045 (GRCm39) |
P462L |
probably benign |
Het |
| Marchf6 |
C |
A |
15: 31,462,087 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
T |
1: 128,283,257 (GRCm39) |
F83I |
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,499,708 (GRCm39) |
L32P |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,962,004 (GRCm39) |
I841F |
probably damaging |
Het |
| Ndst2 |
G |
T |
14: 20,778,572 (GRCm39) |
H399N |
probably damaging |
Het |
| Npat |
G |
T |
9: 53,481,726 (GRCm39) |
V1145F |
probably damaging |
Het |
| Or51b6 |
G |
A |
7: 103,555,717 (GRCm39) |
A21T |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,472,133 (GRCm39) |
T326A |
probably benign |
Het |
| Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,308 (GRCm39) |
Q172L |
unknown |
Het |
| Setd1a |
C |
T |
7: 127,384,718 (GRCm39) |
T523I |
possibly damaging |
Het |
| Sgcz |
C |
T |
8: 38,030,294 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
C |
18: 58,047,306 (GRCm39) |
Y740H |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,690,985 (GRCm39) |
C745R |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,046,611 (GRCm39) |
L86Q |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,313,702 (GRCm39) |
F57V |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,594,771 (GRCm39) |
K778R |
possibly damaging |
Het |
| Washc5 |
G |
A |
15: 59,218,691 (GRCm39) |
T692M |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,685 (GRCm39) |
V379D |
probably damaging |
Het |
| Zfp142 |
G |
T |
1: 74,615,437 (GRCm39) |
R459S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,553 (GRCm39) |
V199A |
probably damaging |
Het |
|
| Other mutations in P2ry1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02324:P2ry1
|
APN |
3 |
60,911,199 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03008:P2ry1
|
APN |
3 |
60,910,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03083:P2ry1
|
APN |
3 |
60,911,736 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0255:P2ry1
|
UTSW |
3 |
60,910,951 (GRCm39) |
missense |
probably benign |
|
|
R2078:P2ry1
|
UTSW |
3 |
60,911,118 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2325:P2ry1
|
UTSW |
3 |
60,910,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:P2ry1
|
UTSW |
3 |
60,910,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:P2ry1
|
UTSW |
3 |
60,911,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3419:P2ry1
|
UTSW |
3 |
60,911,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3848:P2ry1
|
UTSW |
3 |
60,910,880 (GRCm39) |
nonsense |
probably null |
|
|
R4716:P2ry1
|
UTSW |
3 |
60,910,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:P2ry1
|
UTSW |
3 |
60,911,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:P2ry1
|
UTSW |
3 |
60,911,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4797:P2ry1
|
UTSW |
3 |
60,910,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5550:P2ry1
|
UTSW |
3 |
60,911,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:P2ry1
|
UTSW |
3 |
60,911,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6278:P2ry1
|
UTSW |
3 |
60,911,215 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6816:P2ry1
|
UTSW |
3 |
60,911,253 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7345:P2ry1
|
UTSW |
3 |
60,911,095 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7473:P2ry1
|
UTSW |
3 |
60,911,509 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8029:P2ry1
|
UTSW |
3 |
60,910,943 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9353:P2ry1
|
UTSW |
3 |
60,911,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation