Incidental Mutation 'R6614:P2rx3'
| ID |
523828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx3
|
| Ensembl Gene |
ENSMUSG00000027071 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 3 |
| Synonyms |
P2X3, 4930513E20Rik |
| MMRRC Submission |
044737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6614 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84828927-84867806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84865543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 34
(I34T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028465]
[ENSMUST00000077798]
[ENSMUST00000111613]
[ENSMUST00000111616]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
| AlphaFold |
Q3UR32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028465
AA Change: I34T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: I34T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
8 |
367 |
1.6e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077798
|
| SMART Domains |
Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSrecog
|
74 |
285 |
1.7e-105 |
PFAM |
|
Rtt106
|
338 |
428 |
4.76e-41 |
SMART |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
542 |
N/A |
INTRINSIC |
|
HMG
|
546 |
616 |
1.9e-27 |
SMART |
|
low complexity region
|
621 |
691 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111613
AA Change: I34T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: I34T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
8 |
372 |
4.7e-162 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111616
AA Change: I34T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071
AA Change: I34T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
8 |
91 |
1.2e-32 |
PFAM |
|
Pfam:P2X_receptor
|
86 |
350 |
3.3e-113 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127839
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130729
|
| SMART Domains |
Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSrecog
|
74 |
285 |
5.7e-106 |
PFAM |
|
Rtt106
|
338 |
428 |
4.76e-41 |
SMART |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
542 |
N/A |
INTRINSIC |
|
HMG
|
546 |
616 |
1.9e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168266
|
| SMART Domains |
Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSrecog
|
75 |
284 |
8.8e-91 |
PFAM |
|
Rtt106
|
338 |
428 |
4.76e-41 |
SMART |
|
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
542 |
N/A |
INTRINSIC |
|
HMG
|
546 |
616 |
1.9e-27 |
SMART |
|
low complexity region
|
621 |
691 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146530
|
| Meta Mutation Damage Score |
0.4096 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
98% (46/47) |
| 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 and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show normal ventilatory responses to hypoxia. Mice homozygous for a reporter allele show loss of rapidly desensitizing ATP-gated cation currents in dorsal root ganglion neurons, reduced formalin-evoked pain behavior, and enhanced thermal hyperalgesia. [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 |
|---|
| 2810004N23Rik |
T |
A |
8: 125,587,986 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,244,371 (GRCm39) |
N2078I |
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,807,800 (GRCm39) |
I814V |
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,084,193 (GRCm39) |
R557G |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,095,899 (GRCm39) |
I70N |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,912,767 (GRCm39) |
L341Q |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,266,803 (GRCm39) |
G41D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,850,411 (GRCm39) |
D4221G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,470,349 (GRCm39) |
|
probably null |
Het |
| Elavl1 |
C |
A |
8: 4,339,818 (GRCm39) |
A255S |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,723,121 (GRCm39) |
G1166D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,235 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,919 (GRCm39) |
S32C |
probably benign |
Het |
| Kcnh7 |
T |
G |
2: 62,607,940 (GRCm39) |
Y547S |
probably damaging |
Het |
| Lima1 |
G |
A |
15: 99,681,461 (GRCm39) |
A243V |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,234,610 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ncor1 |
A |
C |
11: 62,221,645 (GRCm39) |
M1283R |
probably benign |
Het |
| Ndufv1 |
G |
A |
19: 4,058,749 (GRCm39) |
T253I |
probably benign |
Het |
| Neurog1 |
G |
T |
13: 56,399,637 (GRCm39) |
Q37K |
probably benign |
Het |
| Nol4 |
T |
G |
18: 23,053,913 (GRCm39) |
K200Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,903,627 (GRCm39) |
H7599R |
probably benign |
Het |
| Oog4 |
A |
G |
4: 143,164,445 (GRCm39) |
V362A |
possibly damaging |
Het |
| Oosp1 |
T |
A |
19: 11,668,314 (GRCm39) |
D23V |
probably damaging |
Het |
| Or11a4 |
T |
C |
17: 37,536,790 (GRCm39) |
V258A |
probably benign |
Het |
| Or11g24 |
C |
T |
14: 50,662,546 (GRCm39) |
T190I |
probably benign |
Het |
| Or4k1 |
T |
A |
14: 50,377,821 (GRCm39) |
I92F |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,536,494 (GRCm39) |
I91L |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,870,925 (GRCm39) |
C98* |
probably null |
Het |
| Pate7 |
A |
G |
9: 35,688,421 (GRCm39) |
W55R |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,717,986 (GRCm39) |
V621E |
probably benign |
Het |
| Prpf39 |
T |
G |
12: 65,089,337 (GRCm39) |
V25G |
probably benign |
Het |
| Psd |
T |
C |
19: 46,301,851 (GRCm39) |
K913E |
probably benign |
Het |
| Ptx4 |
A |
T |
17: 25,341,676 (GRCm39) |
R50S |
possibly damaging |
Het |
| Rex2 |
A |
T |
4: 147,137,018 (GRCm39) |
M16L |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,095,937 (GRCm39) |
V604E |
probably damaging |
Het |
| Sp140l2 |
A |
C |
1: 85,179,781 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,127,482 (GRCm39) |
N1843Y |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp6 |
T |
A |
12: 44,908,058 (GRCm39) |
T187S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,607,108 (GRCm39) |
C215Y |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,407,142 (GRCm38) |
K671* |
probably null |
Het |
| Trmt1 |
G |
T |
8: 85,415,962 (GRCm39) |
V7L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,174 (GRCm39) |
R15102H |
probably benign |
Het |
| Unc79 |
A |
T |
12: 102,957,689 (GRCm39) |
I35F |
probably damaging |
Het |
|
| Other mutations in P2rx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:P2rx3
|
APN |
2 |
84,865,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01775:P2rx3
|
APN |
2 |
84,854,501 (GRCm39) |
missense |
probably benign |
|
|
IGL01897:P2rx3
|
APN |
2 |
84,853,825 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL02399:P2rx3
|
APN |
2 |
84,853,571 (GRCm39) |
missense |
probably benign |
|
|
R0928:P2rx3
|
UTSW |
2 |
84,865,642 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R1428:P2rx3
|
UTSW |
2 |
84,855,294 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1537:P2rx3
|
UTSW |
2 |
84,853,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1678:P2rx3
|
UTSW |
2 |
84,852,811 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4332:P2rx3
|
UTSW |
2 |
84,855,205 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4897:P2rx3
|
UTSW |
2 |
84,855,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5052:P2rx3
|
UTSW |
2 |
84,829,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5903:P2rx3
|
UTSW |
2 |
84,831,071 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5917:P2rx3
|
UTSW |
2 |
84,865,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:P2rx3
|
UTSW |
2 |
84,852,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:P2rx3
|
UTSW |
2 |
84,854,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8953:P2rx3
|
UTSW |
2 |
84,853,842 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9237:P2rx3
|
UTSW |
2 |
84,853,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:P2rx3
|
UTSW |
2 |
84,852,820 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATGCACCTGAGACGGGTC -3'
(R):5'- ATTAAGCAGCCCACTCCAGTTC -3'
Sequencing Primer
(F):5'- CACCTGAGACGGGTCTAGATG -3'
(R):5'- TCTGTCTCCCAGTCCTGAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation