|Institutional Source||Beutler Lab|
|Gene Name||toll-like receptor 9|
|Is this an essential gene?||Probably non essential (E-score: 0.097)|
|Stock #||R0585 (G1)|
|Chromosomal Location||106222598-106226883 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 106225076 bp|
|Amino Acid Change||Threonine to Isoleucine at position 522 (T522I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000082207 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062241]|
|Predicted Effect||probably benign
AA Change: T522I
PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: T522I
|Meta Mutation Damage Score||0.2387|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
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 gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice exhibit impaired immune responses to CpG DNA and altered susceptibility to EAE and parasitic infection. ENU-induced mutants may exhibit altered susceptibility to viral infection or induced colitis and impaired immune response to unmethylated CpG oligonucleotides. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tlr9||
(F):5'- CTGAGCACCCCTGCTTCTAAGAAC -3'
(R):5'- CCGCTGAAGTCAAGAAACCTCACTG -3'
(F):5'- TCGGAACAACCTGGTGACTA -3'
(R):5'- AGAAACCTCACTGAGTTGCTG -3'