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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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