Incidental Mutation 'R5194:P2rx7'
| ID |
399947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx7
|
| Ensembl Gene |
ENSMUSG00000029468 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 7 |
| Synonyms |
P2X(7), P2X7R, P2X7 receptor |
| MMRRC Submission |
042770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5194 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122781974-122829495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122811858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 390
(S390P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031425]
[ENSMUST00000100737]
[ENSMUST00000121489]
|
| AlphaFold |
Q9Z1M0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031425
AA Change: S390P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031425
Gene: ENSMUSG00000029468
AA Change: S390P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
11 |
403 |
1e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100737
AA Change: S390P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: S390P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
11 |
397 |
3.6e-158 |
PFAM |
|
low complexity region
|
435 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121489
AA Change: S390P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112440
Gene: ENSMUSG00000029468
AA Change: S390P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
11 |
403 |
3.5e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199371
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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 is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
C |
17: 48,348,059 (GRCm39) |
N82D |
probably benign |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,281,652 (GRCm39) |
V380A |
probably benign |
Het |
| Acadm |
C |
T |
3: 153,638,755 (GRCm39) |
R206H |
possibly damaging |
Het |
| Acly |
T |
A |
11: 100,414,372 (GRCm39) |
Y18F |
probably benign |
Het |
| Acnat2 |
G |
T |
4: 49,380,452 (GRCm39) |
Q291K |
probably benign |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,453 (GRCm39) |
I456V |
probably benign |
Het |
| Ankrd7 |
A |
G |
6: 18,868,076 (GRCm39) |
N114S |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,275,132 (GRCm39) |
L307I |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,542,956 (GRCm39) |
I383F |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,843,198 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,763,624 (GRCm39) |
V538A |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,532,936 (GRCm39) |
E254G |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,788,345 (GRCm39) |
V236A |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,723,302 (GRCm39) |
Q169* |
probably null |
Het |
| Egfem1 |
G |
A |
3: 29,411,345 (GRCm39) |
|
probably null |
Het |
| Eif2ak3 |
T |
C |
6: 70,835,462 (GRCm39) |
S130P |
possibly damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,032,355 (GRCm39) |
N297S |
unknown |
Het |
| F13a1 |
T |
G |
13: 37,156,037 (GRCm39) |
D192A |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,034,411 (GRCm39) |
V1067A |
probably benign |
Het |
| Gm17490 |
T |
C |
2: 11,631,062 (GRCm39) |
Y5C |
unknown |
Het |
| Gm57859 |
T |
C |
11: 113,579,654 (GRCm39) |
S350P |
possibly damaging |
Het |
| Gm8587 |
C |
T |
12: 88,056,556 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Ab1 |
C |
T |
17: 34,488,352 (GRCm39) |
|
probably benign |
Het |
| Hoxd12 |
T |
C |
2: 74,505,447 (GRCm39) |
L6P |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,910 (GRCm39) |
D564N |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,667,751 (GRCm39) |
V444A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,235,526 (GRCm39) |
N877H |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,079,495 (GRCm39) |
I388V |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,801,733 (GRCm39) |
A1286V |
probably benign |
Het |
| Myt1l |
A |
C |
12: 29,861,647 (GRCm39) |
D143A |
unknown |
Het |
| Ngfr |
T |
C |
11: 95,471,808 (GRCm39) |
N63S |
probably benign |
Het |
| Or2ag16 |
A |
T |
7: 106,352,426 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4c3 |
T |
A |
2: 89,851,870 (GRCm39) |
Y180F |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,071 (GRCm39) |
I255V |
probably benign |
Het |
| Or6c70 |
C |
T |
10: 129,709,967 (GRCm39) |
V220I |
probably benign |
Het |
| Or6z6 |
A |
G |
7: 6,491,519 (GRCm39) |
L118P |
probably damaging |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,794 (GRCm39) |
Q781P |
probably benign |
Het |
| Phip |
G |
A |
9: 82,790,915 (GRCm39) |
S677F |
probably benign |
Het |
| Ptpdc1 |
C |
A |
13: 48,740,265 (GRCm39) |
V389F |
possibly damaging |
Het |
| Rab2a |
T |
A |
4: 8,604,381 (GRCm39) |
I161N |
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,111 (GRCm39) |
M1K |
probably null |
Het |
| Schip1 |
T |
C |
3: 68,402,205 (GRCm39) |
V122A |
probably benign |
Het |
| Sdr16c5 |
C |
A |
4: 4,006,663 (GRCm39) |
A210S |
probably benign |
Het |
| Sh3bp1 |
A |
G |
15: 78,787,301 (GRCm39) |
K83E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,166,012 (GRCm39) |
S1541G |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,870,673 (GRCm39) |
Y4C |
probably damaging |
Het |
| Smco1 |
C |
T |
16: 32,092,592 (GRCm39) |
H88Y |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,084,336 (GRCm39) |
D697G |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,200 (GRCm39) |
N334S |
possibly damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,346,847 (GRCm39) |
I64T |
probably benign |
Het |
| Vstm2b |
T |
A |
7: 40,551,912 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,140,639 (GRCm39) |
F238L |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,596,822 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,579,434 (GRCm39) |
S560G |
probably benign |
Het |
|
| Other mutations in P2rx7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:P2rx7
|
APN |
5 |
122,814,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:P2rx7
|
APN |
5 |
122,796,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02375:P2rx7
|
APN |
5 |
122,811,719 (GRCm39) |
splice site |
probably benign |
|
|
IGL02502:P2rx7
|
APN |
5 |
122,819,050 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03102:P2rx7
|
APN |
5 |
122,801,668 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03179:P2rx7
|
APN |
5 |
122,811,763 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
ailing
|
UTSW |
5 |
122,811,799 (GRCm39) |
missense |
probably benign |
|
|
Enfermo
|
UTSW |
5 |
122,790,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Incapacitated
|
UTSW |
5 |
122,811,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Sickpuppy
|
UTSW |
5 |
122,819,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Stumped
|
UTSW |
5 |
122,790,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
BB009:P2rx7
|
UTSW |
5 |
122,782,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB019:P2rx7
|
UTSW |
5 |
122,782,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT1430001:P2rx7
|
UTSW |
5 |
122,819,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0363:P2rx7
|
UTSW |
5 |
122,795,093 (GRCm39) |
nonsense |
probably null |
|
|
R0558:P2rx7
|
UTSW |
5 |
122,811,861 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1186:P2rx7
|
UTSW |
5 |
122,808,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:P2rx7
|
UTSW |
5 |
122,808,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1856:P2rx7
|
UTSW |
5 |
122,819,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:P2rx7
|
UTSW |
5 |
122,811,799 (GRCm39) |
missense |
probably benign |
|
|
R1905:P2rx7
|
UTSW |
5 |
122,819,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:P2rx7
|
UTSW |
5 |
122,782,158 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2117:P2rx7
|
UTSW |
5 |
122,819,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2205:P2rx7
|
UTSW |
5 |
122,819,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2446:P2rx7
|
UTSW |
5 |
122,818,879 (GRCm39) |
missense |
probably benign |
|
|
R3151:P2rx7
|
UTSW |
5 |
122,819,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4052:P2rx7
|
UTSW |
5 |
122,804,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:P2rx7
|
UTSW |
5 |
122,819,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:P2rx7
|
UTSW |
5 |
122,808,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5257:P2rx7
|
UTSW |
5 |
122,819,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5258:P2rx7
|
UTSW |
5 |
122,819,066 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5481:P2rx7
|
UTSW |
5 |
122,818,883 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5656:P2rx7
|
UTSW |
5 |
122,811,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5738:P2rx7
|
UTSW |
5 |
122,790,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6587:P2rx7
|
UTSW |
5 |
122,802,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:P2rx7
|
UTSW |
5 |
122,811,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7120:P2rx7
|
UTSW |
5 |
122,819,357 (GRCm39) |
missense |
probably benign |
|
|
R7180:P2rx7
|
UTSW |
5 |
122,818,883 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7358:P2rx7
|
UTSW |
5 |
122,804,205 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7724:P2rx7
|
UTSW |
5 |
122,811,436 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7932:P2rx7
|
UTSW |
5 |
122,782,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8240:P2rx7
|
UTSW |
5 |
122,793,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:P2rx7
|
UTSW |
5 |
122,808,521 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9140:P2rx7
|
UTSW |
5 |
122,790,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9331:P2rx7
|
UTSW |
5 |
122,818,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9623:P2rx7
|
UTSW |
5 |
122,790,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:P2rx7
|
UTSW |
5 |
122,801,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATTTGGGAAGAGTTGTCTCAC -3'
(R):5'- TGTCTCCCTGGATATAGAGCATC -3'
Sequencing Primer
(F):5'- AGAGTTGTCTCACAGTCAGGG -3'
(R):5'- GGATATAGAGCATCTCCATCTTCAGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation