Incidental Mutation 'IGL01764:Tlr9'
ID 153636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr9
Ensembl Gene ENSMUSG00000045322
Gene Name toll-like receptor 9
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01764
Quality Score
Status
Chromosome 9
Chromosomal Location 106099797-106104075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106103004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 765 (C765F)
Ref Sequence ENSEMBL: ENSMUSP00000082207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062241]
AlphaFold Q9EQU3
PDB Structure Crystal structure of mouse TLR9 (unliganded form) [X-RAY DIFFRACTION]
Crystal structure of mouse TLR9 in complex with inhibitory DNA4084 (form 1) [X-RAY DIFFRACTION]
Crystal structure of mouse TLR9 in complex with inhibitory DNA4084 (form 2) [X-RAY DIFFRACTION]
Crystal structure of mouse TLR9 in complex with inhibitory DNA_super [X-RAY DIFFRACTION]
Crystal Structure of the C-terminal Domain of Mouse TLR9 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000062241
AA Change: C765F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: C765F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LRR 62 85 1.49e2 SMART
LRR 122 144 1.41e1 SMART
LRR 198 221 4.98e-1 SMART
LRR 283 306 6.59e1 SMART
LRR 307 332 1.62e1 SMART
Blast:LRR 333 361 8e-6 BLAST
LRR 390 413 7.38e1 SMART
LRR 414 440 1.86e2 SMART
LRR 496 520 1.81e2 SMART
LRR 521 544 6.05e0 SMART
LRR 545 568 2.27e2 SMART
LRR 575 599 4.58e1 SMART
LRR 628 651 3.87e1 SMART
LRR_TYP 677 700 3.39e-3 SMART
LRR 702 724 2.27e2 SMART
LRR 726 748 3.09e2 SMART
Blast:LRRCT 761 810 4e-11 BLAST
Pfam:TIR 870 1029 7.4e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 86,909,910 (GRCm39) M1L probably benign Het
BC025920 T A 10: 81,444,984 (GRCm39) Y36N probably damaging Het
Cdk11b G A 4: 155,713,260 (GRCm39) R112H possibly damaging Het
Ctu2 G A 8: 123,206,161 (GRCm39) probably benign Het
Ddx56 A C 11: 6,215,692 (GRCm39) V219G probably null Het
Dnah14 T C 1: 181,572,342 (GRCm39) V2891A probably benign Het
Fbn2 G T 18: 58,178,423 (GRCm39) N1938K probably damaging Het
Fbxw20 A G 9: 109,052,427 (GRCm39) M302T possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gpat2 T C 2: 127,269,456 (GRCm39) I36T probably benign Het
Gsta5 A T 9: 78,211,789 (GRCm39) probably null Het
Hmcn2 A G 2: 31,295,642 (GRCm39) E2617G possibly damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Krba1 C T 6: 48,392,770 (GRCm39) R895W probably benign Het
Large2 G T 2: 92,197,531 (GRCm39) probably benign Het
Lrp1b C T 2: 40,587,454 (GRCm39) V165M unknown Het
Mapk1 T A 16: 16,801,597 (GRCm39) M36K possibly damaging Het
Nf1 A G 11: 79,275,013 (GRCm39) T25A probably benign Het
Nrxn3 G A 12: 90,171,524 (GRCm39) V1316I possibly damaging Het
Pik3r4 G A 9: 105,562,321 (GRCm39) probably benign Het
Plekhh1 G T 12: 79,101,679 (GRCm39) A250S probably benign Het
Polr3g G A 13: 81,830,238 (GRCm39) T145M possibly damaging Het
Prss32 A G 17: 24,075,085 (GRCm39) D145G probably damaging Het
Rab11fip3 T C 17: 26,287,667 (GRCm39) K162R probably benign Het
Spag7 A G 11: 70,554,933 (GRCm39) probably benign Het
Spata2l T A 8: 123,960,914 (GRCm39) Q125L probably benign Het
Trip11 A T 12: 101,850,890 (GRCm39) I773N probably damaging Het
Vcan T G 13: 89,873,507 (GRCm39) T116P probably damaging Het
Vmn2r22 C T 6: 123,627,379 (GRCm39) probably null Het
Yme1l1 T C 2: 23,052,556 (GRCm39) I70T probably benign Het
Zfp938 T A 10: 82,063,624 (GRCm39) probably benign Het
Other mutations in Tlr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Tlr9 APN 9 106,102,206 (GRCm39) missense probably damaging 1.00
IGL02077:Tlr9 APN 9 106,102,704 (GRCm39) missense possibly damaging 0.90
IGL02232:Tlr9 APN 9 106,102,136 (GRCm39) missense probably damaging 1.00
IGL02851:Tlr9 APN 9 106,101,929 (GRCm39) nonsense probably null
Asura UTSW 9 106,101,846 (GRCm39) missense probably damaging 1.00
Cpg1 UTSW 9 106,102,206 (GRCm39) missense probably damaging 1.00
Cpg11 UTSW 9 106,101,785 (GRCm39) missense probably damaging 1.00
Cpg2 UTSW 9 106,103,664 (GRCm39) missense probably damaging 1.00
Cpg3 UTSW 9 106,101,351 (GRCm39) missense probably damaging 1.00
Cpg5 UTSW 9 106,101,888 (GRCm39) missense probably damaging 1.00
Cpg6 UTSW 9 106,103,792 (GRCm39) missense probably damaging 1.00
cpg7 UTSW 9 106,102,548 (GRCm39) missense probably benign 0.00
Meager UTSW 9 106,101,338 (GRCm39) missense probably damaging 1.00
PIT4498001:Tlr9 UTSW 9 106,100,721 (GRCm39) missense probably benign 0.00
R0058:Tlr9 UTSW 9 106,102,164 (GRCm39) missense possibly damaging 0.90
R0058:Tlr9 UTSW 9 106,102,164 (GRCm39) missense possibly damaging 0.90
R0071:Tlr9 UTSW 9 106,100,777 (GRCm39) missense probably benign
R0071:Tlr9 UTSW 9 106,100,777 (GRCm39) missense probably benign
R0126:Tlr9 UTSW 9 106,102,881 (GRCm39) missense probably benign 0.01
R0165:Tlr9 UTSW 9 106,103,286 (GRCm39) missense probably benign 0.10
R0534:Tlr9 UTSW 9 106,102,086 (GRCm39) missense probably benign 0.01
R0585:Tlr9 UTSW 9 106,102,275 (GRCm39) missense probably benign 0.01
R1527:Tlr9 UTSW 9 106,100,949 (GRCm39) missense probably benign 0.09
R1712:Tlr9 UTSW 9 106,101,248 (GRCm39) missense probably damaging 1.00
R1817:Tlr9 UTSW 9 106,102,142 (GRCm39) missense probably benign
R1940:Tlr9 UTSW 9 106,101,846 (GRCm39) missense probably damaging 1.00
R2117:Tlr9 UTSW 9 106,102,536 (GRCm39) missense probably damaging 1.00
R2656:Tlr9 UTSW 9 106,101,140 (GRCm39) missense probably benign 0.05
R3700:Tlr9 UTSW 9 106,101,278 (GRCm39) missense probably damaging 1.00
R4600:Tlr9 UTSW 9 106,101,732 (GRCm39) missense probably damaging 1.00
R4608:Tlr9 UTSW 9 106,102,173 (GRCm39) missense probably damaging 0.99
R4612:Tlr9 UTSW 9 106,101,006 (GRCm39) missense probably damaging 1.00
R4959:Tlr9 UTSW 9 106,101,876 (GRCm39) missense probably benign
R5173:Tlr9 UTSW 9 106,103,151 (GRCm39) missense possibly damaging 0.49
R5472:Tlr9 UTSW 9 106,101,512 (GRCm39) missense probably damaging 1.00
R5572:Tlr9 UTSW 9 106,102,836 (GRCm39) missense possibly damaging 0.47
R5618:Tlr9 UTSW 9 106,101,938 (GRCm39) missense possibly damaging 0.47
R5820:Tlr9 UTSW 9 106,099,906 (GRCm39) critical splice donor site probably null
R6393:Tlr9 UTSW 9 106,102,136 (GRCm39) missense probably damaging 1.00
R6397:Tlr9 UTSW 9 106,102,305 (GRCm39) missense probably damaging 1.00
R6455:Tlr9 UTSW 9 106,101,198 (GRCm39) missense probably damaging 1.00
R7385:Tlr9 UTSW 9 106,102,463 (GRCm39) missense probably damaging 1.00
R7455:Tlr9 UTSW 9 106,101,729 (GRCm39) missense probably benign 0.00
R7561:Tlr9 UTSW 9 106,103,148 (GRCm39) missense probably benign 0.00
R8889:Tlr9 UTSW 9 106,099,834 (GRCm39) start gained probably benign
R8892:Tlr9 UTSW 9 106,099,834 (GRCm39) start gained probably benign
R8926:Tlr9 UTSW 9 106,103,213 (GRCm39) missense probably benign
R9221:Tlr9 UTSW 9 106,101,972 (GRCm39) missense probably damaging 1.00
R9228:Tlr9 UTSW 9 106,102,752 (GRCm39) missense possibly damaging 0.49
R9581:Tlr9 UTSW 9 106,101,510 (GRCm39) missense probably damaging 1.00
R9689:Tlr9 UTSW 9 106,100,721 (GRCm39) missense probably benign 0.00
R9697:Tlr9 UTSW 9 106,100,723 (GRCm39) nonsense probably null
R9788:Tlr9 UTSW 9 106,101,006 (GRCm39) missense probably damaging 1.00
Z1176:Tlr9 UTSW 9 106,100,862 (GRCm39) missense probably benign 0.03
Posted On 2014-02-04