|Institutional Source||Beutler Lab|
|Gene Name||toll-like receptor 4|
|Synonyms||Rasl2-8, Lps, lipopolysaccharide response|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7638 (G1)|
|Chromosomal Location||66827584-66930284 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 66840206 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 412 (M412K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045770 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048096] [ENSMUST00000107365]|
Crystal structure of mouse TLR4 and mouse MD-2 complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/lipid IVa complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/LPS complex [X-RAY DIFFRACTION]
AA Change: M412K
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: M412K
|Meta Mutation Damage Score||0.3105|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: This gene belongs to the evolutionarily-conserved Toll-like receptor family, whose members are type-1 transmembrane proteins that are involved in innate immunity. Toll-like receptors are characterized by an extracellular leucine-rich repeat domain that functions in ligand recognition and an intracellular toll/interleukin-1 receptor-like domain that is crucial for signal transduction. The receptor encoded by this gene mediates the innate immune response to bacterial lipopolysaccharide, a major component of the outer membrane of Gram-negative bacteria, through synthesis of pro-inflammatory cytokines and chemokines. In addition, this protein can recognize other pathogens from Gram-negative and Gram-positive bacteria as well as viral components. Mice deficient in this gene display a number of immune response-related phenotypes including hyporesponsiveness to bacterial lipopolysaccharide and increased levels of respiratory syncytial virus compared to controls. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tlr4||
(F):5'- AACTTAAGCAGTTTCCAACTCTGG -3'
(R):5'- TGTTGAGACTGGTCAAGCC -3'
(F):5'- ACTCTGGATCTACCCTTTCTTAAAAG -3'
(R):5'- TGGTCAAGCCAAGAAATATACCATCG -3'