Incidental Mutation 'R4155:P2rx5'
| ID |
315101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx5
|
| Ensembl Gene |
ENSMUSG00000005950 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 5 |
| Synonyms |
P2X5 |
| MMRRC Submission |
040999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73051247-73063511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73062655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 455
(T455A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006104]
[ENSMUST00000054952]
[ENSMUST00000108480]
[ENSMUST00000135202]
[ENSMUST00000136894]
|
| AlphaFold |
Q3UYI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006104
AA Change: T455A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: T455A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
382 |
2.1e-161 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054952
|
| SMART Domains |
Protein: ENSMUSP00000060892
Gene: ENSMUSG00000047260
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5ip
|
24 |
104 |
6.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108480
|
| SMART Domains |
Protein: ENSMUSP00000104120
Gene: ENSMUSG00000047260
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5ip
|
24 |
104 |
6.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135202
|
| SMART Domains |
Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
307 |
1.8e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136894
|
| SMART Domains |
Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
331 |
2.9e-144 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
| Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
| Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
| Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
| Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
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 |
|
R3415:P2rx5
|
UTSW |
11 |
73,051,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- TGAACACCGTCATGCATCTG -3'
(R):5'- AAGCCTTCCATGAAACAAATCTTGC -3'
Sequencing Primer
(F):5'- GCTGCAGCTAAGACAGTGTTC -3'
(R):5'- TTCCATGAAACAAATCTTGCAGCAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation