|Institutional Source||Beutler Lab|
|Gene Name||toll-like receptor 6|
|Is this an essential gene?||Probably non essential (E-score: 0.216)|
|Stock #||R4518 (G1)|
|Chromosomal Location||64952031-64960097 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 64954904 bp|
|Amino Acid Change||Phenylalanine to Serine at position 220 (F220S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062096 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062315] [ENSMUST00000201307]|
|Predicted Effect||possibly damaging
AA Change: F220S
PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: F220S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.214|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
PHENOTYPE: Inactivation of this gene results in abnormal macrophage function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tlr6||
(F):5'- CGAGCACTTCCAGGTTGTTTC -3'
(R):5'- TTCAATGACTTTGATGTACTGCCTG -3'
(F):5'- CTATGTGCTGGAGGGTCACATTC -3'
(R):5'- TTTGGCAACCTGACGAAGCTG -3'