Incidental Mutation 'IGL02643:Ptafr'
ID301819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptafr
Ensembl Gene ENSMUSG00000056529
Gene Nameplatelet-activating factor receptor
SynonymsPAF receptor, PAFR
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02643
Quality Score
Status
Chromosome4
Chromosomal Location132564067-132582683 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 132580126 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 276 (I276L)
Ref Sequence ENSEMBL: ENSMUSP00000070925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070690]
Predicted Effect probably benign
Transcript: ENSMUST00000070690
AA Change: I276L

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070925
Gene: ENSMUSG00000056529
AA Change: I276L

DomainStartEndE-ValueType
Pfam:7tm_1 32 292 1.4e-40 PFAM
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T G 5: 121,631,570 M608L probably benign Het
Adamts2 A T 11: 50,788,700 M836L probably benign Het
Ankrd11 A T 8: 122,892,322 M1597K probably damaging Het
Arhgef17 A T 7: 100,883,882 F1145L possibly damaging Het
Atp13a3 A T 16: 30,333,796 W32R probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bod1l T A 5: 41,818,805 E1722V possibly damaging Het
Ceacam16 A G 7: 19,861,161 probably benign Het
Col14a1 T A 15: 55,420,862 Y840N unknown Het
Dlg5 A G 14: 24,191,182 C132R probably damaging Het
Dock4 T A 12: 40,668,430 N242K probably damaging Het
Dsg3 G A 18: 20,528,955 V426I probably benign Het
Dync1h1 T C 12: 110,659,272 probably benign Het
Flvcr2 T A 12: 85,796,223 M357K possibly damaging Het
Gapvd1 A G 2: 34,704,180 S932P probably damaging Het
Gata4 T A 14: 63,204,755 D205V possibly damaging Het
Gm5244 T C 19: 12,846,936 noncoding transcript Het
Kcnk2 T A 1: 189,258,779 I195L possibly damaging Het
Krt1 T C 15: 101,847,044 I427V probably benign Het
Mapk1ip1l T A 14: 47,310,882 H162Q possibly damaging Het
Micu1 A G 10: 59,839,736 D380G probably damaging Het
Mknk2 A C 10: 80,668,601 L289R probably damaging Het
Myo18a A T 11: 77,778,172 N286I possibly damaging Het
Olfr291 A T 7: 84,857,031 I221F probably damaging Het
Pdp1 C T 4: 11,962,062 R83H probably benign Het
Rab3gap2 A T 1: 185,267,000 D968V possibly damaging Het
Samd8 T A 14: 21,793,144 M447K probably damaging Het
Six5 G T 7: 19,097,530 V649L probably benign Het
Slc1a2 T A 2: 102,739,880 F168I probably benign Het
Slc1a7 G A 4: 108,012,300 V521M possibly damaging Het
Soga1 A G 2: 157,040,743 V463A probably damaging Het
Sorbs1 T C 19: 40,365,133 D206G possibly damaging Het
Stim2 T C 5: 54,110,613 V417A probably damaging Het
Tbx20 A G 9: 24,773,713 probably benign Het
Tia1 A G 6: 86,416,390 I71V probably benign Het
Ttc7 T C 17: 87,340,899 S509P possibly damaging Het
Ttpal A G 2: 163,607,220 probably benign Het
Tubgcp2 A T 7: 139,996,154 N865K probably damaging Het
Wdr45 G T X: 7,727,049 E62* probably null Het
Zfp507 A G 7: 35,795,231 F129S probably damaging Het
Zfp518b T A 5: 38,674,155 H169L probably damaging Het
Other mutations in Ptafr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:Ptafr APN 4 132580258 missense probably benign 0.01
R0035:Ptafr UTSW 4 132579553 missense probably benign 0.15
R0035:Ptafr UTSW 4 132579553 missense probably benign 0.15
R0346:Ptafr UTSW 4 132580079 nonsense probably null
R0455:Ptafr UTSW 4 132580085 missense probably benign 0.00
R1982:Ptafr UTSW 4 132579985 missense probably damaging 0.99
R2228:Ptafr UTSW 4 132579380 missense possibly damaging 0.79
R4051:Ptafr UTSW 4 132579994 missense probably benign 0.23
R5499:Ptafr UTSW 4 132579335 missense probably damaging 0.98
R5979:Ptafr UTSW 4 132579305 missense probably benign 0.03
R6755:Ptafr UTSW 4 132579346 missense probably benign 0.09
R7577:Ptafr UTSW 4 132579752 missense probably damaging 1.00
Posted On2015-04-16