Incidental Mutation 'IGL03079:P2rx5'
| ID |
417797 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
P2rx5
|
| Ensembl Gene |
ENSMUSG00000005950 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 5 |
| Synonyms |
P2X5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL03079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
73051247-73063511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73055714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 57
(D57G)
|
| 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: D57G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: D57G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
382 |
2.1e-161 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135202
AA Change: D57G
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
AA Change: D57G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
307 |
1.8e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136894
AA Change: D57G
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: D57G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
331 |
2.9e-144 |
PFAM |
|
| 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 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
A |
10: 102,845,209 (GRCm39) |
H274L |
probably damaging |
Het |
| Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
| C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
| Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
| Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
| Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,556 (GRCm39) |
L289F |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
| Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
| Marchf11 |
T |
C |
15: 26,311,144 (GRCm39) |
S207P |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,909 (GRCm39) |
M154I |
possibly damaging |
Het |
| Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
| Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,240,590 (GRCm39) |
Y726C |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,195,423 (GRCm39) |
E7G |
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 |
|
|
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 |
|
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation