Incidental Mutation 'R1081:P2rx4'
| ID |
152686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx4
|
| Ensembl Gene |
ENSMUSG00000029470 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel 4 |
| Synonyms |
D5Ertd444e, P2X4 |
| MMRRC Submission |
039167-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1081 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
122845607-122867801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122865296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 307
(E307G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031429]
[ENSMUST00000081554]
[ENSMUST00000111668]
[ENSMUST00000139631]
[ENSMUST00000142664]
[ENSMUST00000198560]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031429
AA Change: E307G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470
AA Change: E307G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
13 |
381 |
3e-175 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081554
AA Change: E280G
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080269
Gene: ENSMUSG00000029470
AA Change: E280G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
13 |
176 |
1.6e-72 |
PFAM |
|
Pfam:P2X_receptor
|
170 |
361 |
2.7e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111668
|
| SMART Domains |
Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
144 |
N/A |
INTRINSIC |
|
S_TKc
|
165 |
446 |
1.53e-92 |
SMART |
|
low complexity region
|
464 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132062
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139631
AA Change: E280G
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118163
Gene: ENSMUSG00000029470
AA Change: E280G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
13 |
176 |
3.7e-73 |
PFAM |
|
Pfam:P2X_receptor
|
171 |
301 |
4.6e-59 |
PFAM |
|
Pfam:P2X_receptor
|
299 |
331 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139712
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142664
AA Change: E307G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117193
Gene: ENSMUSG00000029470
AA Change: E307G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
13 |
358 |
2.7e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198560
|
| SMART Domains |
Protein: ENSMUSP00000142849
Gene: ENSMUSG00000029470
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
13 |
47 |
6.9e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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 with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in hypertension, abnormal artery morphology, abnormal nitric oxide homeostasis, and impaired flow induced vascular remodeling and vasodilation. [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 |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
| Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
| Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
| Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
| Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
| Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
| Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
| Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
| Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
| Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
probably damaging |
Het |
|
| Other mutations in P2rx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0709:P2rx4
|
UTSW |
5 |
122,852,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:P2rx4
|
UTSW |
5 |
122,852,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:P2rx4
|
UTSW |
5 |
122,852,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3434:P2rx4
|
UTSW |
5 |
122,863,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3435:P2rx4
|
UTSW |
5 |
122,863,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:P2rx4
|
UTSW |
5 |
122,863,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:P2rx4
|
UTSW |
5 |
122,857,211 (GRCm39) |
missense |
probably null |
1.00 |
|
R5888:P2rx4
|
UTSW |
5 |
122,865,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:P2rx4
|
UTSW |
5 |
122,857,228 (GRCm39) |
missense |
probably benign |
|
|
R5994:P2rx4
|
UTSW |
5 |
122,863,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:P2rx4
|
UTSW |
5 |
122,865,304 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6478:P2rx4
|
UTSW |
5 |
122,845,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6847:P2rx4
|
UTSW |
5 |
122,865,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:P2rx4
|
UTSW |
5 |
122,845,842 (GRCm39) |
nonsense |
probably null |
|
|
X0066:P2rx4
|
UTSW |
5 |
122,845,808 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGGAGCAACTCGTTAACCAAG -3'
(R):5'- TCTCTGCATCAGACTGGACTGAGAC -3'
Sequencing Primer
(F):5'- CGTTAACCAAGACAAGTTGTGC -3'
(R):5'- GCATCCAGTCTAGAGTCAAGTCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation