Incidental Mutation 'R6278:P2ry1'
ID |
507763 |
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 |
044448-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.297)
|
Stock # |
R6278 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
60910216-60916403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60911215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 118
(I118N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029331]
[ENSMUST00000193201]
[ENSMUST00000193943]
|
AlphaFold |
P49650 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029331
AA Change: I118N
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029331 Gene: ENSMUSG00000027765 AA Change: I118N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
68 |
324 |
4.8e-40 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193201
AA Change: I118N
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142006 Gene: ENSMUSG00000027765 AA Change: I118N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
68 |
324 |
7.2e-47 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193943
AA Change: I118N
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141371 Gene: ENSMUSG00000027765 AA Change: I118N
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: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
100% (49/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,200,395 (GRCm39) |
T702A |
possibly damaging |
Het |
Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,802,729 (GRCm39) |
Y207C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,183,394 (GRCm39) |
K465R |
probably damaging |
Het |
Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
Cyp2c69 |
A |
T |
19: 39,831,507 (GRCm39) |
C435* |
probably null |
Het |
Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
Kif24 |
A |
T |
4: 41,423,498 (GRCm39) |
V251E |
probably damaging |
Het |
Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
Ston2 |
T |
C |
12: 91,615,104 (GRCm39) |
K435E |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
probably benign |
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 |
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 |
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'- AATGTGCCCTGACCAAGACC -3'
(R):5'- ACCAGCACGCTGACATAAATGG -3'
Sequencing Primer
(F):5'- GACCAAGACCGGTTTCCAGTTC -3'
(R):5'- CACGCTGACATAAATGGCATTCTTC -3'
|
Posted On |
2018-03-15 |