Incidental Mutation 'R6675:P2rx6'
| ID |
527265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx6
|
| Ensembl Gene |
ENSMUSG00000022758 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 6 |
| Synonyms |
P2rxl1, P2xm |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6675 (G1)
|
| Quality Score |
116.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17379729-17389879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17380032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 52
(V52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000023442]
[ENSMUST00000100123]
[ENSMUST00000168383]
[ENSMUST00000171002]
[ENSMUST00000231806]
[ENSMUST00000232637]
|
| AlphaFold |
O54803 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023441
AA Change: V52A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: V52A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
385 |
7.9e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023442
|
| SMART Domains |
Protein: ENSMUSP00000023442
Gene: ENSMUSG00000022759
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
71 |
103 |
3.9e0 |
SMART |
|
LRR
|
104 |
131 |
1.04e-3 |
SMART |
|
LRR
|
132 |
159 |
1.14e1 |
SMART |
|
LRR
|
160 |
187 |
7.78e-3 |
SMART |
|
LRR
|
188 |
215 |
3.9e0 |
SMART |
|
LRR
|
216 |
243 |
7.89e-1 |
SMART |
|
LRR
|
244 |
271 |
6.78e-3 |
SMART |
|
LRR
|
272 |
299 |
5.51e-1 |
SMART |
|
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100123
|
| SMART Domains |
Protein: ENSMUSP00000097699
Gene: ENSMUSG00000022759
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
71 |
103 |
3.9e0 |
SMART |
|
LRR
|
104 |
131 |
1.04e-3 |
SMART |
|
LRR
|
132 |
159 |
1.14e1 |
SMART |
|
LRR
|
160 |
187 |
7.78e-3 |
SMART |
|
LRR
|
188 |
215 |
3.9e0 |
SMART |
|
LRR
|
216 |
243 |
7.89e-1 |
SMART |
|
LRR
|
244 |
271 |
6.78e-3 |
SMART |
|
LRR
|
272 |
299 |
5.51e-1 |
SMART |
|
LRR
|
300 |
327 |
4.16e0 |
SMART |
|
low complexity region
|
374 |
387 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168383
AA Change: V52A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758
AA Change: V52A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
266 |
4.2e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171002
AA Change: V52A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
AA Change: V52A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
25 |
197 |
1e-65 |
PFAM |
|
Pfam:P2X_receptor
|
185 |
362 |
7e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
AA Change: V52A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232637
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
| Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
| Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
| Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
| Cers3 |
A |
T |
7: 66,435,844 (GRCm39) |
T232S |
possibly damaging |
Het |
| Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
| Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
| Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
| Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,849,286 (GRCm39) |
N96I |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
| Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
| Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
| Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
| Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
| Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,919,568 (GRCm39) |
I273V |
probably benign |
Het |
| Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,449,836 (GRCm39) |
Q91* |
probably null |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
| Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
| Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
possibly damaging |
Het |
|
| Other mutations in P2rx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02029:P2rx6
|
APN |
16 |
17,385,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02928:P2rx6
|
APN |
16 |
17,382,901 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03372:P2rx6
|
APN |
16 |
17,385,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:P2rx6
|
UTSW |
16 |
17,385,291 (GRCm39) |
splice site |
probably benign |
|
|
R0534:P2rx6
|
UTSW |
16 |
17,385,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:P2rx6
|
UTSW |
16 |
17,386,162 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4232:P2rx6
|
UTSW |
16 |
17,388,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:P2rx6
|
UTSW |
16 |
17,385,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:P2rx6
|
UTSW |
16 |
17,380,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:P2rx6
|
UTSW |
16 |
17,388,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9016:P2rx6
|
UTSW |
16 |
17,385,304 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9037:P2rx6
|
UTSW |
16 |
17,388,307 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9111:P2rx6
|
UTSW |
16 |
17,385,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9568:P2rx6
|
UTSW |
16 |
17,385,300 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1176:P2rx6
|
UTSW |
16 |
17,385,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATGCATGGCTTCTTGG -3'
(R):5'- ACGTGGGCGAATGGATCTTC -3'
Sequencing Primer
(F):5'- GCTGCGGCTAAAGTTGC -3'
(R):5'- GGATCTTCCACTGTTCTCTGAATGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation