Incidental Mutation 'R1238:P2rx1'
| ID |
152506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx1
|
| Ensembl Gene |
ENSMUSG00000020787 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 1 |
| Synonyms |
RP-2, P2x, Pdcd3, P2X1 receptor |
| MMRRC Submission |
039305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72889929-72906026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72903784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 282
(K282T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021141]
[ENSMUST00000092938]
|
| AlphaFold |
P51576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021141
AA Change: K309T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: K309T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
376 |
1.2e-157 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092938
AA Change: K282T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: K282T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
14 |
182 |
1.1e-71 |
PFAM |
|
Pfam:P2X_receptor
|
171 |
355 |
2.1e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180695
|
| Meta Mutation Damage Score |
0.9328 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
97% (35/36) |
| 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 P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
G |
A |
14: 118,835,051 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,451 (GRCm39) |
N78I |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,353,725 (GRCm39) |
Q819H |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cit |
T |
A |
5: 115,989,280 (GRCm39) |
F56I |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,835 (GRCm39) |
F222L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,762,675 (GRCm39) |
A769V |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,397,909 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,018,852 (GRCm39) |
R607G |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,817,338 (GRCm39) |
E745A |
probably benign |
Het |
| Eif1ad |
T |
G |
19: 5,420,111 (GRCm39) |
*171G |
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,264 (GRCm39) |
V246A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,482,908 (GRCm39) |
D146G |
probably damaging |
Het |
| Iqub |
C |
T |
6: 24,505,884 (GRCm39) |
R8H |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,282 (GRCm39) |
R1161H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,897,648 (GRCm39) |
S675P |
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,222 (GRCm39) |
V346E |
probably damaging |
Het |
| Or1j21 |
A |
T |
2: 36,683,601 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or7d11 |
T |
A |
9: 19,966,757 (GRCm39) |
M1L |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,274,758 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
A |
G |
10: 85,721,726 (GRCm39) |
I411V |
probably benign |
Het |
| Rnaset2b |
T |
C |
17: 7,256,169 (GRCm39) |
S12P |
probably damaging |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
| Slc25a21 |
T |
A |
12: 56,785,272 (GRCm39) |
I202F |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,264,440 (GRCm39) |
V472A |
probably benign |
Het |
| Ttc12 |
A |
T |
9: 49,369,487 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
T |
G |
5: 87,073,988 (GRCm39) |
I124L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 9,997,763 (GRCm39) |
N357K |
probably benign |
Het |
|
| Other mutations in P2rx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:P2rx1
|
APN |
11 |
72,903,826 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01109:P2rx1
|
APN |
11 |
72,899,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02466:P2rx1
|
APN |
11 |
72,900,410 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02524:P2rx1
|
APN |
11 |
72,900,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:P2rx1
|
APN |
11 |
72,903,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:P2rx1
|
UTSW |
11 |
72,900,026 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0479:P2rx1
|
UTSW |
11 |
72,903,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:P2rx1
|
UTSW |
11 |
72,904,939 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4016:P2rx1
|
UTSW |
11 |
72,900,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:P2rx1
|
UTSW |
11 |
72,900,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:P2rx1
|
UTSW |
11 |
72,899,329 (GRCm39) |
missense |
probably benign |
|
|
R6172:P2rx1
|
UTSW |
11 |
72,900,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6285:P2rx1
|
UTSW |
11 |
72,898,974 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6348:P2rx1
|
UTSW |
11 |
72,890,148 (GRCm39) |
missense |
probably benign |
|
|
R7793:P2rx1
|
UTSW |
11 |
72,900,079 (GRCm39) |
nonsense |
probably null |
|
|
R8402:P2rx1
|
UTSW |
11 |
72,904,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:P2rx1
|
UTSW |
11 |
72,899,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8723:P2rx1
|
UTSW |
11 |
72,899,756 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8857:P2rx1
|
UTSW |
11 |
72,903,197 (GRCm39) |
intron |
probably benign |
|
|
R8903:P2rx1
|
UTSW |
11 |
72,900,821 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8965:P2rx1
|
UTSW |
11 |
72,900,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9007:P2rx1
|
UTSW |
11 |
72,900,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:P2rx1
|
UTSW |
11 |
72,904,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCATTCTCCTTGAGCAATGCTG -3'
(R):5'- GGGAAAGTCAAACCTGCCTCCTAC -3'
Sequencing Primer
(F):5'- CTTGAGCAATGCTGGAGGG -3'
(R):5'- CAGGTCAGTAAACCTGAGCTTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation