Incidental Mutation 'R3415:P2rx5'
| ID |
266775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx5
|
| Ensembl Gene |
ENSMUSG00000005950 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 5 |
| Synonyms |
P2X5 |
| MMRRC Submission |
040633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R3415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73051247-73063511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73051486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 22
(V22L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006104]
[ENSMUST00000135202]
[ENSMUST00000136894]
|
| AlphaFold |
Q3UYI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006104
AA Change: V22L
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: V22L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
382 |
2.1e-161 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135202
AA Change: V22L
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
AA Change: V22L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
307 |
1.8e-120 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136894
AA Change: V22L
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: V22L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
331 |
2.9e-144 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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 purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant mice exhibit decreased peripheral blood CD8+ lymphocytes and elevated NK cells. Impaired learning/memory during trace aversive conditioning and increased exploratory behavior during open field testing is also seen. [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 |
|---|
| Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
| Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
| Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
|
| Other mutations in P2rx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:P2rx5
|
APN |
11 |
73,058,318 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01860:P2rx5
|
APN |
11 |
73,056,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02019:P2rx5
|
APN |
11 |
73,058,803 (GRCm39) |
splice site |
probably benign |
|
|
IGL03079:P2rx5
|
APN |
11 |
73,055,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03088:P2rx5
|
APN |
11 |
73,056,446 (GRCm39) |
splice site |
probably benign |
|
|
R0014:P2rx5
|
UTSW |
11 |
73,057,888 (GRCm39) |
splice site |
probably benign |
|
|
R0845:P2rx5
|
UTSW |
11 |
73,056,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:P2rx5
|
UTSW |
11 |
73,058,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:P2rx5
|
UTSW |
11 |
73,062,655 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4641:P2rx5
|
UTSW |
11 |
73,058,390 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4750:P2rx5
|
UTSW |
11 |
73,055,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:P2rx5
|
UTSW |
11 |
73,062,605 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5186:P2rx5
|
UTSW |
11 |
73,062,616 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7003:P2rx5
|
UTSW |
11 |
73,058,800 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7141:P2rx5
|
UTSW |
11 |
73,051,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:P2rx5
|
UTSW |
11 |
73,055,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:P2rx5
|
UTSW |
11 |
73,062,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9488:P2rx5
|
UTSW |
11 |
73,056,427 (GRCm39) |
missense |
|
|
|
R9759:P2rx5
|
UTSW |
11 |
73,058,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0004:P2rx5
|
UTSW |
11 |
73,057,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAGCACCTTCCCCTTC -3'
(R):5'- TACATCCACGGGCTTTAAGG -3'
Sequencing Primer
(F):5'- TGGTGTCACCGTGTCAGC -3'
(R):5'- TTTAAGGCTGACTCCCCCAAGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation