Incidental Mutation 'R5499:Ptafr'
ID 430510
Institutional Source Beutler Lab
Gene Symbol Ptafr
Ensembl Gene ENSMUSG00000056529
Gene Name platelet-activating factor receptor
Synonyms PAF receptor, PAFR
MMRRC Submission 043060-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5499 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132291378-132309994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132306646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 12 (E12G)
Ref Sequence ENSEMBL: ENSMUSP00000070925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070690]
AlphaFold Q62035
Predicted Effect probably damaging
Transcript: ENSMUST00000070690
AA Change: E12G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070925
Gene: ENSMUSG00000056529
AA Change: E12G

DomainStartEndE-ValueType
Pfam:7tm_1 32 292 1.4e-40 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,432,137 (GRCm39) E74K unknown Het
Adam10 A T 9: 70,647,399 (GRCm39) H176L probably benign Het
Anapc5 C T 5: 122,926,476 (GRCm39) E621K probably damaging Het
Asf1a T A 10: 53,482,266 (GRCm39) L26Q probably damaging Het
Atxn1l A G 8: 110,458,264 (GRCm39) L666P probably damaging Het
Cep290 G A 10: 100,373,515 (GRCm39) R1265H probably damaging Het
Chd8 A G 14: 52,441,888 (GRCm39) probably null Het
Ctse T A 1: 131,600,251 (GRCm39) Y333* probably null Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dnai7 A T 6: 145,123,157 (GRCm39) W570R probably damaging Het
Ercc6 G A 14: 32,238,916 (GRCm39) M1I probably null Het
Fbxl4 A G 4: 22,386,017 (GRCm39) E208G probably damaging Het
Fstl4 G T 11: 52,959,374 (GRCm39) M138I probably benign Het
Galnt17 T A 5: 130,929,466 (GRCm39) Q447L probably benign Het
H2-Q7 T A 17: 35,658,916 (GRCm39) C122* probably null Het
Herpud1 C T 8: 95,116,041 (GRCm39) L69F probably damaging Het
Hnrnpa3 A G 2: 75,495,584 (GRCm39) Y365C probably benign Het
Ino80 A T 2: 119,272,128 (GRCm39) V553E probably damaging Het
Kif13a A G 13: 46,986,212 (GRCm39) Y38H probably damaging Het
Klk1b21 A G 7: 43,755,100 (GRCm39) I132V probably benign Het
Lamb2 T C 9: 108,365,001 (GRCm39) S1252P possibly damaging Het
Lct T A 1: 128,214,414 (GRCm39) D1786V probably damaging Het
Lrig2 T A 3: 104,368,873 (GRCm39) M572L probably benign Het
Lrp1 C T 10: 127,408,813 (GRCm39) V1710I possibly damaging Het
Mmp12 C A 9: 7,353,000 (GRCm39) S250R probably benign Het
Mycbp2 T C 14: 103,479,615 (GRCm39) D1226G probably damaging Het
Myocd A G 11: 65,069,575 (GRCm39) I755T possibly damaging Het
Nup210l T C 3: 90,081,677 (GRCm39) L1003P probably damaging Het
Or11h23 G A 14: 50,948,324 (GRCm39) C179Y probably damaging Het
Or1af1 T C 2: 37,109,777 (GRCm39) I92T possibly damaging Het
Or52e8b A T 7: 104,674,184 (GRCm39) M1K probably null Het
Palmd T A 3: 116,717,481 (GRCm39) M339L probably benign Het
Phtf1 T A 3: 103,898,491 (GRCm39) N307K probably benign Het
Ppp2r3c T C 12: 55,335,411 (GRCm39) I243V probably benign Het
Rpgrip1 T A 14: 52,378,042 (GRCm39) N463K probably benign Het
Sgcb T C 5: 73,801,748 (GRCm39) N39S probably damaging Het
Skint5 A G 4: 113,799,700 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn8 C A 11: 82,895,042 (GRCm39) S588I probably damaging Het
Tcea2 A G 2: 181,322,227 (GRCm39) I10V probably damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Top2a C T 11: 98,913,202 (GRCm39) V77I probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vrk1 A G 12: 106,018,024 (GRCm39) K98E possibly damaging Het
Zcchc2 C T 1: 105,958,322 (GRCm39) T931I possibly damaging Het
Zfc3h1 T A 10: 115,246,598 (GRCm39) L895H probably damaging Het
Zfp101 T C 17: 33,601,318 (GRCm39) E108G probably benign Het
Zfp609 A G 9: 65,610,137 (GRCm39) V942A probably benign 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
R4051:Ptafr UTSW 4 132,307,305 (GRCm39) missense probably benign 0.23
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'- CCACTGTGCTATAACCCCTTCA -3'
(R):5'- CACAGTGGGAGGGTGATCAG -3'

Sequencing Primer
(F):5'- AGGTCAGCTAGTACCACTCAGG -3'
(R):5'- TCAGGAAGAGCAGGTCAGCC -3'
Posted On 2016-10-05