Incidental Mutation 'R5550:P2ry1'
ID |
435078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
P2ry1
|
Ensembl Gene |
ENSMUSG00000027765 |
Gene Name |
purinergic receptor P2Y, G-protein coupled 1 |
Synonyms |
P2Y1, P2y1r, P2Y1 receptor |
MMRRC Submission |
043107-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.297)
|
Stock # |
R5550 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
60910216-60916403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60911232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 124
(C124R)
|
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: C124R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029331 Gene: ENSMUSG00000027765 AA Change: C124R
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: C124R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142006 Gene: ENSMUSG00000027765 AA Change: C124R
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: C124R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141371 Gene: ENSMUSG00000027765 AA Change: C124R
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly 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 |
IGL03238:P2ry1
|
APN |
3 |
60,911,916 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCGGCTGTCTACATTTTAGTG -3'
(R):5'- TCCCAGTGCCAGAGTAGAAG -3'
Sequencing Primer
(F):5'- AGTGTTCATCATAGGCTTCCTAGGC -3'
(R):5'- TAGGGGAGATGGCCACCAC -3'
|
Posted On |
2016-10-24 |