Incidental Mutation 'R1321:P2ry12'
| ID |
157673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2ry12
|
| Ensembl Gene |
ENSMUSG00000036353 |
| Gene Name |
purinergic receptor P2Y, G-protein coupled 12 |
| Synonyms |
P2Y12, 2900079B22Rik, 4921504D23Rik |
| MMRRC Submission |
039387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R1321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
59123693-59170292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59124646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 343
(E343G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040325]
[ENSMUST00000050360]
[ENSMUST00000164225]
[ENSMUST00000170388]
[ENSMUST00000196583]
[ENSMUST00000199609]
[ENSMUST00000199659]
[ENSMUST00000199675]
|
| AlphaFold |
Q9CPV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040325
|
| SMART Domains |
Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
1.71e-24 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
282 |
730 |
2.6e-207 |
PFAM |
|
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1466 |
N/A |
INTRINSIC |
|
low complexity region
|
1728 |
1742 |
N/A |
INTRINSIC |
|
low complexity region
|
1769 |
1783 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1803 |
2029 |
2.3e-14 |
PFAM |
|
low complexity region
|
2055 |
2076 |
N/A |
INTRINSIC |
|
low complexity region
|
2083 |
2101 |
N/A |
INTRINSIC |
|
low complexity region
|
2116 |
2136 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050360
AA Change: E343G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051353
Gene: ENSMUSG00000036353
AA Change: E343G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
48 |
304 |
1.3e-40 |
PFAM |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164225
|
| SMART Domains |
Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
1.71e-24 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
283 |
765 |
5e-187 |
PFAM |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
|
low complexity region
|
1763 |
1777 |
N/A |
INTRINSIC |
|
low complexity region
|
1804 |
1818 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1840 |
2063 |
9.7e-66 |
PFAM |
|
low complexity region
|
2090 |
2111 |
N/A |
INTRINSIC |
|
low complexity region
|
2118 |
2136 |
N/A |
INTRINSIC |
|
low complexity region
|
2151 |
2171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170388
AA Change: E343G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126819
Gene: ENSMUSG00000036353
AA Change: E343G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
23 |
304 |
1.5e-31 |
PFAM |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196583
AA Change: E343G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143036
Gene: ENSMUSG00000036353
AA Change: E343G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
48 |
304 |
1.3e-40 |
PFAM |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199609
AA Change: E343G
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143521
Gene: ENSMUSG00000036353
AA Change: E343G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
23 |
304 |
1.5e-31 |
PFAM |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199659
|
| SMART Domains |
Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476
| Domain | Start | End | E-Value | Type |
|---|
|
Med12
|
101 |
161 |
1.71e-24 |
SMART |
|
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
Pfam:Med12-LCEWAV
|
282 |
765 |
5.5e-209 |
PFAM |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1775 |
N/A |
INTRINSIC |
|
low complexity region
|
1802 |
1816 |
N/A |
INTRINSIC |
|
Pfam:Med12-PQL
|
1836 |
2062 |
1.7e-15 |
PFAM |
|
low complexity region
|
2088 |
2130 |
N/A |
INTRINSIC |
|
low complexity region
|
2144 |
2164 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199675
|
| SMART Domains |
Protein: ENSMUSP00000143706
Gene: ENSMUSG00000036353
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4PY0|A
|
2 |
116 |
5e-59 |
PDB |
|
SCOP:d1l9ha_
|
3 |
116 |
8e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0841 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (41/41) |
| 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 is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in impaired platelet activation, increased bleeding time and delayed thrombus formation in injured arteries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
| Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
| Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
| Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
|
| Other mutations in P2ry12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:P2ry12
|
APN |
3 |
59,125,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03075:P2ry12
|
APN |
3 |
59,125,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:P2ry12
|
UTSW |
3 |
59,125,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:P2ry12
|
UTSW |
3 |
59,124,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1274:P2ry12
|
UTSW |
3 |
59,124,641 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1513:P2ry12
|
UTSW |
3 |
59,125,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:P2ry12
|
UTSW |
3 |
59,125,199 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2108:P2ry12
|
UTSW |
3 |
59,124,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:P2ry12
|
UTSW |
3 |
59,125,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:P2ry12
|
UTSW |
3 |
59,125,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4499:P2ry12
|
UTSW |
3 |
59,125,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4501:P2ry12
|
UTSW |
3 |
59,125,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4670:P2ry12
|
UTSW |
3 |
59,125,325 (GRCm39) |
splice site |
probably null |
|
|
R4823:P2ry12
|
UTSW |
3 |
59,125,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5643:P2ry12
|
UTSW |
3 |
59,125,516 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5644:P2ry12
|
UTSW |
3 |
59,125,516 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6246:P2ry12
|
UTSW |
3 |
59,124,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6261:P2ry12
|
UTSW |
3 |
59,125,328 (GRCm39) |
missense |
probably null |
0.87 |
|
R6473:P2ry12
|
UTSW |
3 |
59,124,932 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6484:P2ry12
|
UTSW |
3 |
59,124,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:P2ry12
|
UTSW |
3 |
59,125,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:P2ry12
|
UTSW |
3 |
59,125,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7446:P2ry12
|
UTSW |
3 |
59,124,632 (GRCm39) |
makesense |
probably null |
|
|
R7676:P2ry12
|
UTSW |
3 |
59,125,178 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7984:P2ry12
|
UTSW |
3 |
59,125,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:P2ry12
|
UTSW |
3 |
59,125,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8905:P2ry12
|
UTSW |
3 |
59,124,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:P2ry12
|
UTSW |
3 |
59,125,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:P2ry12
|
UTSW |
3 |
59,125,496 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9651:P2ry12
|
UTSW |
3 |
59,134,931 (GRCm39) |
intron |
probably benign |
|
|
RF018:P2ry12
|
UTSW |
3 |
59,124,833 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTATAGCAATGGGATGCAGTTC -3'
(R):5'- AGGGGTTCAGCCAAAGTTCCCAAG -3'
Sequencing Primer
(F):5'- CCTGCAGACTAAGATTTTTCCCATA -3'
(R):5'- ACCCTGTTCTACGTGAAGGAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation