Incidental Mutation 'R4232:P2rx6'
ID |
320932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
P2rx6
|
Ensembl Gene |
ENSMUSG00000022758 |
Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 6 |
Synonyms |
P2rxl1, P2xm |
MMRRC Submission |
041051-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4232 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17379729-17389879 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17388631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 335
(L335P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000063544]
[ENSMUST00000171002]
[ENSMUST00000172164]
[ENSMUST00000231283]
[ENSMUST00000232226]
[ENSMUST00000232186]
[ENSMUST00000231645]
[ENSMUST00000231806]
[ENSMUST00000231552]
[ENSMUST00000231615]
[ENSMUST00000232336]
[ENSMUST00000232385]
|
AlphaFold |
O54803 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023441
AA Change: L362P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023441 Gene: ENSMUSG00000022758 AA Change: L362P
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: ENSMUST00000063544
|
SMART Domains |
Protein: ENSMUSP00000067243 Gene: ENSMUSG00000022756
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
37 |
436 |
1.4e-49 |
PFAM |
Pfam:AA_permease
|
41 |
426 |
9.4e-38 |
PFAM |
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
transmembrane domain
|
508 |
530 |
N/A |
INTRINSIC |
Pfam:AA_permease_C
|
540 |
590 |
1.4e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116648
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171002
AA Change: L335P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132727 Gene: ENSMUSG00000022758 AA Change: L335P
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: ENSMUST00000172164
|
SMART Domains |
Protein: ENSMUSP00000127280 Gene: ENSMUSG00000022756
Domain | Start | End | E-Value | Type |
Pfam:AA_permease_2
|
37 |
498 |
2.6e-46 |
PFAM |
Pfam:AA_permease
|
41 |
423 |
4.5e-36 |
PFAM |
transmembrane domain
|
508 |
530 |
N/A |
INTRINSIC |
Pfam:AA_permease_C
|
540 |
590 |
1.5e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231283
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231645
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231552
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231615
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232336
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232429
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232385
|
Meta Mutation Damage Score |
0.7382 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
92% (58/63) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
Dnajb3 |
A |
G |
1: 88,132,974 (GRCm39) |
S143P |
possibly damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
Hnrnpr |
T |
C |
4: 136,066,500 (GRCm39) |
M394T |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
Tsc22d4 |
T |
C |
5: 137,749,632 (GRCm39) |
|
probably null |
Het |
Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
Vmn2r19 |
G |
A |
6: 123,306,871 (GRCm39) |
V460I |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
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 |
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 |
R6675:P2rx6
|
UTSW |
16 |
17,380,032 (GRCm39) |
missense |
probably benign |
0.02 |
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'- AGGTCTCTTAGGCAGGGAAG -3'
(R):5'- CTGGCTCGGTCTATGAACTG -3'
Sequencing Primer
(F):5'- CTCTTAGGCAGGGAAGTTCGC -3'
(R):5'- CTCGGTCTATGAACTGTTGGTAGTC -3'
|
Posted On |
2015-06-12 |