Incidental Mutation 'R9759:P2rx5'
ID |
732908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
P2rx5
|
Ensembl Gene |
ENSMUSG00000005950 |
Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 5 |
Synonyms |
P2X5 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R9759 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73051247-73063511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73058341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 259
(I259F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006104]
[ENSMUST00000135202]
[ENSMUST00000136894]
|
AlphaFold |
Q3UYI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006104
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006104 Gene: ENSMUSG00000005950 AA Change: I259F
Domain | Start | End | E-Value | Type |
Pfam:P2X_receptor
|
14 |
382 |
2.1e-161 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135202
AA Change: I235F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118448 Gene: ENSMUSG00000005950 AA Change: I235F
Domain | Start | End | E-Value | Type |
Pfam:P2X_receptor
|
14 |
307 |
1.8e-120 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136894
AA Change: I259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121834 Gene: ENSMUSG00000005950 AA Change: I259F
Domain | Start | End | E-Value | Type |
Pfam:P2X_receptor
|
14 |
331 |
2.9e-144 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
G |
T |
13: 119,615,989 (GRCm39) |
W508L |
probably damaging |
Het |
Abt1 |
G |
T |
13: 23,606,439 (GRCm39) |
Q172K |
probably damaging |
Het |
Aoah |
C |
A |
13: 21,000,738 (GRCm39) |
H57Q |
probably damaging |
Het |
Cpxm2 |
T |
C |
7: 131,756,242 (GRCm39) |
E34G |
probably benign |
Het |
Ddx25 |
C |
T |
9: 35,457,265 (GRCm39) |
R350Q |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,965,944 (GRCm39) |
H1691Y |
probably null |
Het |
Doc2g |
A |
T |
19: 4,056,571 (GRCm39) |
H319L |
probably benign |
Het |
Enah |
A |
C |
1: 181,841,911 (GRCm39) |
V6G |
unknown |
Het |
Fam135b |
T |
G |
15: 71,335,689 (GRCm39) |
T502P |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,562,918 (GRCm39) |
S530P |
possibly damaging |
Het |
Gm19410 |
A |
G |
8: 36,252,938 (GRCm39) |
R628G |
possibly damaging |
Het |
Hdac7 |
T |
C |
15: 97,699,989 (GRCm39) |
T614A |
probably benign |
Het |
Ift88 |
T |
A |
14: 57,672,256 (GRCm39) |
L32* |
probably null |
Het |
Insm2 |
C |
T |
12: 55,647,390 (GRCm39) |
T378M |
possibly damaging |
Het |
Kctd3 |
G |
A |
1: 188,710,786 (GRCm39) |
T459M |
probably damaging |
Het |
Khsrp |
A |
G |
17: 57,332,925 (GRCm39) |
L188P |
probably benign |
Het |
Kynu |
A |
G |
2: 43,569,881 (GRCm39) |
I388V |
probably benign |
Het |
Met |
T |
C |
6: 17,555,561 (GRCm39) |
V1090A |
probably damaging |
Het |
Mier1 |
C |
T |
4: 103,019,725 (GRCm39) |
T483I |
probably benign |
Het |
Mthfsd |
A |
G |
8: 121,824,615 (GRCm39) |
S297P |
probably benign |
Het |
Pax3 |
A |
G |
1: 78,170,415 (GRCm39) |
L138P |
probably damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,938,546 (GRCm39) |
H575Q |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,492,465 (GRCm39) |
R953H |
probably benign |
Het |
Sirt1 |
A |
G |
10: 63,156,516 (GRCm39) |
S705P |
probably benign |
Het |
Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
Slc46a3 |
T |
C |
5: 147,823,234 (GRCm39) |
T203A |
probably benign |
Het |
Snta1 |
G |
T |
2: 154,222,889 (GRCm39) |
T278K |
probably benign |
Het |
Stac3 |
A |
G |
10: 127,344,083 (GRCm39) |
D327G |
possibly damaging |
Het |
Timm44 |
C |
A |
8: 4,317,707 (GRCm39) |
E205* |
probably null |
Het |
Timm8a2 |
A |
T |
14: 122,272,216 (GRCm39) |
T40S |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,620,360 (GRCm39) |
N698S |
possibly damaging |
Het |
Zik1 |
A |
C |
7: 10,223,716 (GRCm39) |
C460W |
possibly damaging |
Het |
Zmynd8 |
A |
C |
2: 165,680,746 (GRCm39) |
I229S |
possibly 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 |
R3415:P2rx5
|
UTSW |
11 |
73,051,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
|
|
X0004:P2rx5
|
UTSW |
11 |
73,057,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCCCGCTAGGTTGTTTTC -3'
(R):5'- TGGACTTGACCCAGCAAAGG -3'
Sequencing Primer
(F):5'- TCTGATCCCAGGGCATCAC -3'
(R):5'- TTGACCCAGCAAAGGATACAG -3'
|
Posted On |
2022-11-14 |