Incidental Mutation 'R0035:Ptafr'
ID 19404
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) question?
Stock # R0035 (G1)
Quality Score 225
Status Validated (trace)
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

DomainStartEndE-ValueType
Pfam:7tm_1 32 292 1.4e-40 PFAM
Meta Mutation Damage Score 0.1866 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 99% (70/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040N11Rik T C 7: 81,438,297 (GRCm39) T20A probably benign Het
Aadacl4 A G 4: 144,344,511 (GRCm39) T96A probably damaging Het
Abcb6 A G 1: 75,151,651 (GRCm39) V473A possibly damaging Het
Abo C A 2: 26,733,385 (GRCm39) K273N possibly damaging Het
Acvr1c A G 2: 58,205,791 (GRCm39) probably benign Het
Adcy8 A T 15: 64,571,217 (GRCm39) V1142D probably benign Het
Akna T A 4: 63,300,682 (GRCm39) H591L 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
Armh3 A T 19: 45,879,679 (GRCm39) M558K probably damaging Het
Atm A G 9: 53,424,480 (GRCm39) V607A probably benign Het
Bltp1 T A 3: 37,041,747 (GRCm39) Y2708* probably null Het
Cass4 C T 2: 172,258,412 (GRCm39) P137S probably damaging Het
Cfap53 A G 18: 74,433,278 (GRCm39) E121G probably damaging Het
Chmp6 T C 11: 119,807,508 (GRCm39) V31A 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
Cntn1 T A 15: 92,129,969 (GRCm39) probably benign Het
Col4a3 G A 1: 82,650,474 (GRCm39) G577R unknown Het
Defa21 T A 8: 21,515,784 (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
Golph3 A T 15: 12,339,776 (GRCm39) E96D probably damaging Het
Hspd1 A G 1: 55,122,942 (GRCm39) V151A probably benign Het
Htr1f A C 16: 64,746,860 (GRCm39) I144S probably damaging Het
Il23r A G 6: 67,450,772 (GRCm39) probably benign Het
Il25 A G 14: 55,170,553 (GRCm39) E42G probably damaging Het
Il36b A T 2: 24,049,890 (GRCm39) H167L probably benign Het
Klrb1-ps1 C T 6: 129,106,306 (GRCm39) A149V possibly damaging Het
Kmt2e T A 5: 23,690,619 (GRCm39) probably benign Het
Ktn1 A G 14: 47,967,836 (GRCm39) N1167D probably benign Het
Lama4 T A 10: 38,948,734 (GRCm39) D832E probably benign Het
Map1b A G 13: 99,571,846 (GRCm39) S292P probably damaging Het
Map6 C T 7: 98,966,815 (GRCm39) T345I probably damaging Het
Mark2 A T 19: 7,262,017 (GRCm39) probably benign Het
Me3 C A 7: 89,500,967 (GRCm39) H559Q probably benign Het
Myo1b A G 1: 51,817,541 (GRCm39) F574L probably damaging Het
Nos2 T C 11: 78,836,553 (GRCm39) S431P probably damaging Het
Nr1h5 T A 3: 102,856,889 (GRCm39) K208* probably null Het
Nup214 T C 2: 31,880,379 (GRCm39) probably null Het
Obp2b T C 2: 25,628,645 (GRCm39) L133P probably damaging Het
Or14a259 T C 7: 86,013,395 (GRCm39) D50G possibly damaging Het
Or5k1 A T 16: 58,617,485 (GRCm39) C241* probably null Het
Osbp2 C T 11: 3,667,997 (GRCm39) probably benign 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
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Tbc1d1 T A 5: 64,414,080 (GRCm39) I18N probably damaging Het
Tbc1d17 T C 7: 44,490,832 (GRCm39) N587D probably benign Het
Trank1 A T 9: 111,195,844 (GRCm39) K1289N probably benign Het
Tspyl3 A G 2: 153,066,240 (GRCm39) S333P probably damaging Het
Ush2a G A 1: 188,089,085 (GRCm39) V347I probably benign Het
Usp17le G T 7: 104,418,269 (GRCm39) S291* probably null Het
Usp24 T A 4: 106,225,224 (GRCm39) S619T probably benign Het
Vmn2r10 T C 5: 109,145,467 (GRCm39) probably benign Het
Vmn2r78 A G 7: 86,569,413 (GRCm39) E102G probably benign Het
Vwa3b G A 1: 37,204,770 (GRCm39) V85I possibly damaging Het
Wwp1 A C 4: 19,631,116 (GRCm39) I639R probably damaging Het
Xpo5 A G 17: 46,551,101 (GRCm39) T1001A 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTTGCCAACGGCTATGTGCTATG -3'
(R):5'- ATGCTCAAAGCAGCGGGTGATG -3'

Sequencing Primer
(F):5'- ATGGGTCTTTGCTAACTTGTACC -3'
(R):5'- GCCATCCTTATTGGGCACTAGG -3'
Posted On 2013-04-11