Incidental Mutation 'R4051:Ptafr'
ID |
314151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptafr
|
Ensembl Gene |
ENSMUSG00000056529 |
Gene Name |
platelet-activating factor receptor |
Synonyms |
PAF receptor, PAFR |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4051 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
132291378-132309994 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132307305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 232
(W232R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070925
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070690]
|
AlphaFold |
Q62035 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070690
AA Change: W232R
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070925 Gene: ENSMUSG00000056529 AA Change: W232R
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
32 |
292 |
1.4e-40 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,938,168 (GRCm39) |
V955A |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
Eif4b |
A |
G |
15: 101,995,039 (GRCm39) |
Y211C |
probably benign |
Het |
Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
Tnfsf10 |
T |
A |
3: 27,389,503 (GRCm39) |
I188N |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACATCACCCGCTGCTTTGAG -3'
(R):5'- TGAGGTGCTTTCGGAACTTC -3'
Sequencing Primer
(F):5'- GCATTATGAGCCATACAGTGTGCC -3'
(R):5'- TCGGAACTTCTTGGTAAGAAAGC -3'
|
Posted On |
2015-04-30 |