Incidental Mutation 'IGL00864:Tlr9'
ID 14474
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: 0.078) question?
Stock # IGL00864
Quality Score
Status
Chromosome 9
Chromosomal Location 106099797-106104075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106102206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 499 (L499P)
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: L499P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: L499P

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
Meta Mutation Damage Score 0.8857 question?
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Ap2b1 A C 11: 83,223,984 (GRCm39) D195A probably damaging Het
Asxl3 T A 18: 22,655,503 (GRCm39) I1171K probably benign Het
Atm T C 9: 53,445,233 (GRCm39) S2G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ephx1 A G 1: 180,818,016 (GRCm39) S356P probably damaging Het
H1f8 A G 6: 115,925,587 (GRCm39) K128R probably damaging Het
Il12rb2 A G 6: 67,313,738 (GRCm39) I6T probably benign Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Kcnq5 T A 1: 21,575,987 (GRCm39) Q239L probably damaging Het
Lmbrd2 T C 15: 9,175,297 (GRCm39) S403P probably damaging Het
Ola1 A T 2: 72,987,241 (GRCm39) D130E probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Opcml A C 9: 28,812,887 (GRCm39) E193A probably damaging Het
Rab44 T C 17: 29,358,711 (GRCm39) S300P probably benign Het
Sergef C A 7: 46,165,087 (GRCm39) probably null Het
Slc6a2 T C 8: 93,722,622 (GRCm39) F540L probably benign Het
Spag6l A G 16: 16,598,597 (GRCm39) V298A probably benign Het
Svep1 G T 4: 58,068,533 (GRCm39) Y3084* probably null Het
Tbc1d4 T A 14: 101,682,002 (GRCm39) D1235V probably benign Het
Ttn G A 2: 76,544,178 (GRCm39) S24609F probably damaging Het
Other mutations in Tlr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:Tlr9 APN 9 106,103,004 (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 2012-12-06