Incidental Mutation 'R0035:Ptafr'
| ID |
15364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptafr
|
| Ensembl Gene |
ENSMUSG00000056529 |
| Gene Name |
platelet-activating factor receptor |
| Synonyms |
PAF receptor, PAFR |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132291378-132309994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132306864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 85
(L85I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070690]
|
| AlphaFold |
Q62035 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070690
AA Change: L85I
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000070925
Gene: ENSMUSG00000056529
AA Change: L85I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
32 |
292 |
1.4e-40 |
PFAM |
|
| Meta Mutation Damage Score |
0.1866 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the G-protein coupled receptor 1 family of proteins. Binding of the encoded protein to its phospholipid ligand, platelet-activating factor (PAF), may regulate the inflammatory response and the perception of pain. Homozygous knockout mice for this gene exhibit impaired anaphylactic response, resistance to bacterial infection, and reduced pain-related behavior. [provided by RefSeq, Aug 2015]
PHENOTYPE: Inactivation of this locus affects the immune response. Homozygotes have a marked reduction in systemic anaphylactic symptoms but are otherwise healthy. Further studies showed delayed elimination of parasites, and resistance to pneumonococcal pneumonia infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Ptafr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00707:Ptafr
|
APN |
4 |
132,307,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02643:Ptafr
|
APN |
4 |
132,307,437 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0035:Ptafr
|
UTSW |
4 |
132,306,864 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0346:Ptafr
|
UTSW |
4 |
132,307,390 (GRCm39) |
nonsense |
probably null |
|
|
R0455:Ptafr
|
UTSW |
4 |
132,307,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1982:Ptafr
|
UTSW |
4 |
132,307,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2228:Ptafr
|
UTSW |
4 |
132,306,691 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4051:Ptafr
|
UTSW |
4 |
132,307,305 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5499:Ptafr
|
UTSW |
4 |
132,306,646 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5979:Ptafr
|
UTSW |
4 |
132,306,616 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6755:Ptafr
|
UTSW |
4 |
132,306,657 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7577:Ptafr
|
UTSW |
4 |
132,307,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Ptafr
|
UTSW |
4 |
132,306,613 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
Z1176:Ptafr
|
UTSW |
4 |
132,307,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation