Incidental Mutation 'R7577:Ptafr'
ID 586488
Institutional Source Beutler Lab
Gene Symbol Ptafr
Ensembl Gene ENSMUSG00000056529
Gene Name platelet-activating factor receptor
Synonyms PAF receptor, PAFR
MMRRC Submission 045662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7577 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 132291378-132309994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132307063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 151 (Y151C)
Ref Sequence ENSEMBL: ENSMUSP00000070925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070690]
AlphaFold Q62035
Predicted Effect probably damaging
Transcript: ENSMUST00000070690
AA Change: Y151C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070925
Gene: ENSMUSG00000056529
AA Change: Y151C

DomainStartEndE-ValueType
Pfam:7tm_1 32 292 1.4e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik C T 10: 78,902,325 (GRCm39) V664M possibly damaging Het
Abca4 A G 3: 121,967,663 (GRCm39) T2238A probably damaging Het
Adss2 G A 1: 177,595,263 (GRCm39) Q426* probably null Het
Afap1l2 T C 19: 56,933,199 (GRCm39) E71G probably damaging Het
Afg1l T C 10: 42,194,607 (GRCm39) D395G probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Alms1 A G 6: 85,592,302 (GRCm39) T385A probably benign Het
Ank3 C T 10: 69,828,402 (GRCm39) T2357I Het
Ankfn1 T A 11: 89,394,797 (GRCm39) S263C probably benign Het
Atpsckmt C T 15: 31,606,186 (GRCm39) A48V probably damaging Het
Azin1 C T 15: 38,501,665 (GRCm39) V29I probably benign Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Cnbd2 G T 2: 156,170,296 (GRCm39) R127L possibly damaging Het
Col6a5 A T 9: 105,741,887 (GRCm39) L2344* probably null Het
Csn3 T C 5: 88,077,821 (GRCm39) V109A not run Het
Cxcr2 C G 1: 74,198,074 (GRCm39) N189K probably benign Het
Dclre1a A G 19: 56,517,965 (GRCm39) F1038S probably damaging Het
Ddx21 T C 10: 62,426,449 (GRCm39) Q468R probably benign Het
Dlx6 A G 6: 6,863,423 (GRCm39) D15G probably damaging Het
Dnajb14 T C 3: 137,610,558 (GRCm39) V262A possibly damaging Het
Dpp7 A G 2: 25,245,603 (GRCm39) V161A probably benign Het
Enkur C T 2: 21,209,913 (GRCm39) S16N probably benign Het
Ensa C A 3: 95,535,956 (GRCm39) H96Q probably damaging Het
Ero1b T G 13: 12,617,254 (GRCm39) C393G probably damaging Het
Fbxo3 T C 2: 103,881,543 (GRCm39) F292L possibly damaging Het
Fcgbpl1 A G 7: 27,853,848 (GRCm39) D1604G possibly damaging Het
Fos T C 12: 85,521,871 (GRCm39) S102P probably benign Het
Foxs1 C T 2: 152,774,361 (GRCm39) G231S probably benign Het
Furin T C 7: 80,046,734 (GRCm39) D174G probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gm32687 T A 10: 81,716,023 (GRCm39) C472S probably damaging Het
Gmip A G 8: 70,267,085 (GRCm39) E327G probably benign Het
Gpld1 A G 13: 25,146,388 (GRCm39) T211A probably benign Het
Grin2d T C 7: 45,511,803 (GRCm39) H214R probably benign Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hnrnpd A T 5: 100,115,113 (GRCm39) F142I probably damaging Het
Krt32 T A 11: 99,972,047 (GRCm39) T434S probably benign Het
Lct T G 1: 128,228,469 (GRCm39) D1008A probably damaging Het
Man1c1 A G 4: 134,291,814 (GRCm39) probably null Het
Marchf7 T A 2: 60,060,048 (GRCm39) C58* probably null Het
Mccc1 C T 3: 36,029,943 (GRCm39) probably null Het
Mybpc1 T A 10: 88,385,187 (GRCm39) D484V probably damaging Het
Myh10 T A 11: 68,636,806 (GRCm39) C227S unknown Het
Niban1 T A 1: 151,594,063 (GRCm39) V916E probably benign Het
Nin T C 12: 70,109,480 (GRCm39) E153G Het
Nr1h2 G A 7: 44,200,216 (GRCm39) T313M probably damaging Het
Or4g7 T A 2: 111,309,477 (GRCm39) I116K probably damaging Het
Or5k15 G T 16: 58,709,629 (GRCm39) A318D probably benign Het
Otog C A 7: 45,937,279 (GRCm39) H1663N possibly damaging Het
Piezo2 G T 18: 63,186,081 (GRCm39) T1696K probably benign Het
Plcd1 A T 9: 118,901,322 (GRCm39) N703K possibly damaging Het
Plekhg4 T A 8: 106,102,031 (GRCm39) C7S probably benign Het
Pnma2 A G 14: 67,153,428 (GRCm39) probably benign Het
Potegl A G 2: 23,097,837 (GRCm39) Y5C probably benign Het
Prag1 A G 8: 36,614,096 (GRCm39) Y1216C probably damaging Het
Prima1 T C 12: 103,163,566 (GRCm39) Y135C probably damaging Het
Prkce C A 17: 86,800,721 (GRCm39) S379* probably null Het
Prmt7 A G 8: 106,968,835 (GRCm39) N383S probably damaging Het
Ptprn2 T C 12: 116,449,486 (GRCm39) M1T probably null Het
Rad23a A T 8: 85,565,108 (GRCm39) S136T probably benign Het
Rnf123 A T 9: 107,947,818 (GRCm39) Y137N probably damaging Het
Sfxn4 A C 19: 60,842,324 (GRCm39) I126S probably benign Het
Slc4a4 A G 5: 89,373,726 (GRCm39) H935R probably damaging Het
Slitrk3 T G 3: 72,958,448 (GRCm39) N108T probably damaging Het
Spred1 T A 2: 117,007,806 (GRCm39) H237Q probably benign Het
Syne1 T A 10: 5,074,820 (GRCm39) K1168N probably damaging Het
Syt14 T C 1: 192,665,885 (GRCm39) K340E unknown Het
Tespa1 T C 10: 130,190,624 (GRCm39) S84P probably damaging Het
Tmem268 G T 4: 63,480,681 (GRCm39) probably benign Het
Tmem52b T A 6: 129,493,040 (GRCm39) Y48* probably null Het
Tox2 C A 2: 163,157,822 (GRCm39) Y295* probably null Het
Trp53bp1 T G 2: 121,067,119 (GRCm39) T536P possibly damaging Het
Tysnd1 T C 10: 61,531,665 (GRCm39) C106R probably benign Het
Unc5d T C 8: 29,381,449 (GRCm39) I63V probably damaging Het
Vmn1r235 A G 17: 21,481,881 (GRCm39) N69D possibly damaging Het
Vps11 A T 9: 44,260,258 (GRCm39) M868K probably benign Het
Wipf3 A G 6: 54,462,509 (GRCm39) T240A possibly damaging Het
Xirp2 G A 2: 67,345,309 (GRCm39) E2517K possibly damaging Het
Ylpm1 T A 12: 85,043,994 (GRCm39) L244Q unknown Het
Zdhhc18 G T 4: 133,342,520 (GRCm39) S198* probably null Het
Zfp760 T A 17: 21,941,242 (GRCm39) L139* 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
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
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'- TACTACTACAACGAGGGCGAC -3'
(R):5'- GTGGATGATGACCAAGTTGC -3'

Sequencing Primer
(F):5'- AACTTCCTGTGCAACGTGG -3'
(R):5'- TGGATGATGACCAAGTTGCAGTAG -3'
Posted On 2019-10-24