|Institutional Source||Beutler Lab|
|Gene Name||platelet-activating factor receptor|
|Synonyms||PAF receptor, PAFR|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0346 (G1)|
|Chromosomal Location||132564067-132582683 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||T to A at 132580079 bp|
|Amino Acid Change||Leucine to Stop codon at position 260 (L260*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070925 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070690]|
|Predicted Effect||probably null
AA Change: L260*
AA Change: L260*
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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||
|Other mutations in Ptafr||
(F):5'- ATGAGCCATACAGTGTGCCCATCC -3'
(R):5'- CCGTCTGTGAGGTCCATTGAAGAG -3'
(F):5'- tcttcatcgccttctgcttc -3'
(R):5'- TTTCAGCGACACAATAGGAGTCTG -3'