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|Institutional Source||Beutler Lab|
|Gene Name||toll-like receptor 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4950 (G1)|
|Chromosomal Location||83836272-83841767 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 83837332 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 481 (E481D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029623 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029623]|
|Predicted Effect||probably damaging
AA Change: E481D
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: E481D
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
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. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice demonstrate abnormal responses to bacterial and viral infections. Mice homozygous for a knock-out allele also exhibit disruption in circadian active and inactive state consolidation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tlr2||
(F):5'- CTGGCGTCTCCATAGTAAAGG -3'
(R):5'- CCTCTCTTGACATCAGCAGG -3'
(F):5'- CTCCATAGTAAAGGATAGGAGTTCGC -3'
(R):5'- GCAGGAACACTTTTCATCCGATG -3'