Incidental Mutation 'IGL02324:P2ry1'
| ID |
288381 |
| 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 # |
IGL02324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
60910216-60916403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60911199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 113
(N113Y)
|
| 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: N113Y
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029331
Gene: ENSMUSG00000027765
AA Change: N113Y
| 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: N113Y
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142006
Gene: ENSMUSG00000027765
AA Change: N113Y
| 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: N113Y
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141371
Gene: ENSMUSG00000027765
AA Change: N113Y
| 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 |
|---|
| Adgrl4 |
T |
A |
3: 151,203,511 (GRCm39) |
C124S |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,368 (GRCm39) |
N42S |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| C1qb |
C |
A |
4: 136,607,811 (GRCm39) |
R184L |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,002,914 (GRCm39) |
|
probably benign |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Copg2 |
C |
A |
6: 30,840,469 (GRCm39) |
|
probably null |
Het |
| Cyp2d40 |
A |
T |
15: 82,645,149 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,414,170 (GRCm39) |
I365T |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,064,342 (GRCm39) |
K6E |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,295,531 (GRCm39) |
T539S |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,046,048 (GRCm39) |
I542K |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,493,593 (GRCm39) |
Y3913C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,536,822 (GRCm39) |
T1264I |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,070,364 (GRCm39) |
D51G |
probably damaging |
Het |
| Gm17093 |
A |
G |
14: 44,755,807 (GRCm39) |
T25A |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 186,957,936 (GRCm39) |
E97G |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 118,039,422 (GRCm39) |
L446P |
unknown |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,129 (GRCm39) |
V92M |
probably damaging |
Het |
| Med23 |
A |
T |
10: 24,773,239 (GRCm39) |
Q281L |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,039,873 (GRCm39) |
S963P |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,479,643 (GRCm39) |
S1217P |
probably damaging |
Het |
| Myocd |
C |
A |
11: 65,069,484 (GRCm39) |
L785F |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,126,982 (GRCm39) |
T798A |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,092,808 (GRCm39) |
|
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,302 (GRCm39) |
|
probably null |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pappa |
A |
G |
4: 65,115,045 (GRCm39) |
R714G |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,710 (GRCm39) |
F579L |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,731,487 (GRCm39) |
Q168L |
probably benign |
Het |
| Spag8 |
T |
C |
4: 43,651,781 (GRCm39) |
E395G |
probably damaging |
Het |
| Stfa2l1 |
T |
C |
16: 35,982,138 (GRCm39) |
Y70H |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tnfrsf25 |
C |
A |
4: 152,203,779 (GRCm39) |
Q296K |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,676,143 (GRCm39) |
I103N |
probably benign |
Het |
|
| Other mutations in P2ry1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation