Incidental Mutation 'IGL01897:P2rx3'
ID |
179445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
P2rx3
|
Ensembl Gene |
ENSMUSG00000027071 |
Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 3 |
Synonyms |
P2X3, 4930513E20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL01897
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
84828927-84867806 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
A to C
at 84853825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028465]
[ENSMUST00000111613]
[ENSMUST00000111616]
|
AlphaFold |
Q3UR32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028465
|
SMART Domains |
Protein: ENSMUSP00000028465 Gene: ENSMUSG00000027071
Domain | Start | End | E-Value | Type |
Pfam:P2X_receptor
|
8 |
367 |
1.6e-151 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111613
|
SMART Domains |
Protein: ENSMUSP00000107240 Gene: ENSMUSG00000027071
Domain | Start | End | E-Value | Type |
Pfam:P2X_receptor
|
8 |
372 |
4.7e-162 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111616
|
SMART Domains |
Protein: ENSMUSP00000107243 Gene: ENSMUSG00000027071
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: ENSMUST00000145285
|
Coding Region Coverage |
|
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 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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
Cyb5d1 |
A |
T |
11: 69,284,587 (GRCm39) |
D188E |
probably benign |
Het |
Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Heyl |
A |
T |
4: 123,140,400 (GRCm39) |
I320F |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
Lat2 |
A |
G |
5: 134,635,481 (GRCm39) |
|
probably benign |
Het |
Lipm |
A |
T |
19: 34,098,708 (GRCm39) |
D394V |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
Pdgfc |
A |
G |
3: 81,111,639 (GRCm39) |
E198G |
possibly damaging |
Het |
Pkdcc |
T |
A |
17: 83,527,548 (GRCm39) |
I242N |
probably damaging |
Het |
Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
probably benign |
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 |
|
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 |
R6614:P2rx3
|
UTSW |
2 |
84,865,543 (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 |
|
Posted On |
2014-05-07 |