Incidental Mutation 'R5173:Tlr9'
ID 398909
Institutional Source Beutler Lab
Gene Symbol Tlr9
Ensembl Gene ENSMUSG00000045322
Gene Name toll-like receptor 9
Synonyms
MMRRC Submission 042753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5173 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106099797-106104075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106103151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 814 (V814D)
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 possibly damaging
Transcript: ENSMUST00000062241
AA Change: V814D

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: V814D

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (50/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 AC A 11: 9,632,032 (GRCm39) probably null Het
Abca6 A T 11: 110,082,546 (GRCm39) F1142L probably benign Het
Ap1g1 T A 8: 110,577,764 (GRCm39) probably null Het
Apob T C 12: 8,058,238 (GRCm39) V2207A probably benign Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Chd3 A G 11: 69,260,069 (GRCm39) probably benign Het
Coch C A 12: 51,643,290 (GRCm39) Y103* probably null Het
Cul3 A T 1: 80,259,133 (GRCm39) D382E possibly damaging Het
Cul5 T C 9: 53,554,034 (GRCm39) T291A probably benign Het
Dab1 T C 4: 104,545,645 (GRCm39) probably null Het
Dmtf1 A G 5: 9,190,356 (GRCm39) probably benign Het
Dpp4 T C 2: 62,217,474 (GRCm39) Y41C probably damaging Het
Eif2ak4 A G 2: 118,238,841 (GRCm39) I45M probably damaging Het
Epn3 T C 11: 94,386,923 (GRCm39) K149R probably damaging Het
Flnc A G 6: 29,455,537 (GRCm39) E2029G probably damaging Het
Gm5799 A G 14: 43,782,116 (GRCm39) N96S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grik5 T C 7: 24,762,319 (GRCm39) H224R possibly damaging Het
Lpar6 A T 14: 73,476,537 (GRCm39) E166V probably benign Het
Mical1 T C 10: 41,360,985 (GRCm39) L683P probably damaging Het
Mis18bp1 T C 12: 65,196,149 (GRCm39) I538M possibly damaging Het
Mobp A G 9: 119,997,311 (GRCm39) R77G possibly damaging Het
Muc21 G T 17: 35,931,633 (GRCm39) probably benign Het
Mylk A G 16: 34,797,383 (GRCm39) H1614R probably benign Het
Or2y16 T C 11: 49,334,713 (GRCm39) F12L probably benign Het
Or4p18 G A 2: 88,233,266 (GRCm39) T4I probably benign Het
Or7c19 T C 8: 85,957,205 (GRCm39) L27P probably damaging Het
Osbpl1a C T 18: 12,895,697 (GRCm39) V390I probably benign Het
Pcdha7 C A 18: 37,107,705 (GRCm39) D243E probably benign Het
Pi4ka A T 16: 17,168,770 (GRCm39) N653K possibly damaging Het
Plin5 T G 17: 56,422,548 (GRCm39) probably null Het
Plod1 A G 4: 148,000,758 (GRCm39) probably benign Het
Psd3 T C 8: 68,149,641 (GRCm39) K372E probably damaging Het
Psmd11 C T 11: 80,351,566 (GRCm39) T263I probably benign Het
Ptprt A T 2: 161,769,676 (GRCm39) N396K probably benign Het
Rab39 T C 9: 53,597,800 (GRCm39) E155G probably damaging Het
Rimbp2 T C 5: 128,874,712 (GRCm39) D293G probably benign Het
Rnf220 T C 4: 117,146,471 (GRCm39) probably benign Het
Rnmt C T 18: 68,454,430 (GRCm39) probably benign Het
Slc10a1 T A 12: 81,002,802 (GRCm39) I279F probably damaging Het
Sp140l1 G A 1: 85,078,288 (GRCm39) R54* probably null Het
Taar6 A G 10: 23,861,250 (GRCm39) Y99H probably damaging Het
Tas2r144 T A 6: 42,193,048 (GRCm39) F263I probably benign Het
Tex15 T A 8: 34,061,768 (GRCm39) N399K possibly damaging Het
Tmem53 T A 4: 117,122,908 (GRCm39) probably benign Het
Ubap2l T C 3: 89,928,337 (GRCm39) I511V possibly damaging Het
Vmn2r60 T C 7: 41,844,935 (GRCm39) M766T probably damaging Het
Zfp462 T C 4: 55,011,115 (GRCm39) V1027A probably damaging Het
Other mutations in Tlr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Tlr9 APN 9 106,102,206 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAAGCAACCCTCTGCACTG -3'
(R):5'- GCAGCTCGTTATACACCCAG -3'

Sequencing Primer
(F):5'- CTCTGCACTGTGCCTGTGG -3'
(R):5'- TGTGCCTTATCGAACACCACG -3'
Posted On 2016-07-06