Incidental Mutation 'R4600:Tlr9'
ID 345541
Institutional Source Beutler Lab
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 # R4600 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 106099797-106104075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106101732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 341 (L341Q)
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: L341Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: L341Q

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,037 (GRCm39) F145L possibly damaging Het
Aars2 T A 17: 45,827,847 (GRCm39) D555E probably damaging Het
Ago1 C A 4: 126,354,185 (GRCm39) M208I probably benign Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Amfr A G 8: 94,700,849 (GRCm39) L537P probably damaging Het
Apob A G 12: 8,058,568 (GRCm39) D2317G probably damaging Het
Asb6 T A 2: 30,714,483 (GRCm39) D209V probably damaging Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Baz2a T A 10: 127,957,052 (GRCm39) C932S probably damaging Het
Btnl10 A G 11: 58,814,426 (GRCm39) I369V probably benign Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clic4 A T 4: 134,966,300 (GRCm39) probably null Het
Col6a3 A G 1: 90,709,626 (GRCm39) S1857P unknown Het
Cracr2a A C 6: 127,580,851 (GRCm39) D9A probably benign Het
Cspg4b A G 13: 113,455,783 (GRCm39) R610G possibly damaging Het
Dcst1 T C 3: 89,263,643 (GRCm39) E384G probably benign Het
Ddx4 T C 13: 112,748,594 (GRCm39) K435E probably damaging Het
Deaf1 T A 7: 140,890,884 (GRCm39) T433S possibly damaging Het
Dnah3 T A 7: 119,689,169 (GRCm39) M82L probably benign Het
Dnhd1 G T 7: 105,352,851 (GRCm39) R2668L probably damaging Het
Efcab6 C T 15: 83,831,126 (GRCm39) G596D probably benign Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Fam181b C A 7: 92,729,992 (GRCm39) A255E possibly damaging Het
Fam83e T A 7: 45,372,924 (GRCm39) D178E probably benign Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gm16494 T A 17: 47,327,723 (GRCm39) K54* probably null Het
Golgb1 A G 16: 36,738,987 (GRCm39) D2442G probably damaging Het
Greb1l G A 18: 10,553,705 (GRCm39) A1569T probably damaging Het
Grik5 C G 7: 24,767,489 (GRCm39) E64Q probably damaging Het
Gstm5 A G 3: 107,805,302 (GRCm39) Y130C probably damaging Het
Gucy2e C G 11: 69,126,994 (GRCm39) A160P possibly damaging Het
Hydin A T 8: 111,293,582 (GRCm39) T3510S probably benign Het
Ift70a1 T C 2: 75,810,977 (GRCm39) T369A probably benign Het
Itgb2 A G 10: 77,381,949 (GRCm39) I84V probably benign Het
Itsn1 A G 16: 91,696,475 (GRCm39) Q26R probably damaging Het
Kat6a A G 8: 23,429,327 (GRCm39) S1561G probably benign Het
Khnyn G A 14: 56,124,438 (GRCm39) V231I probably benign Het
Kif21b A G 1: 136,075,602 (GRCm39) D243G probably benign Het
Klk4 T A 7: 43,534,762 (GRCm39) N240K probably damaging Het
Knl1 T C 2: 118,901,025 (GRCm39) S909P possibly damaging Het
Lamb1 A C 12: 31,373,528 (GRCm39) D1419A probably benign Het
Lin9 T A 1: 180,508,759 (GRCm39) V421D probably damaging Het
Lipt2 T C 7: 99,809,519 (GRCm39) L202P probably benign Het
Mbd5 T G 2: 49,147,209 (GRCm39) M473R probably benign Het
Mcc A T 18: 44,652,587 (GRCm39) I279N probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mylk2 G A 2: 152,759,476 (GRCm39) V389M probably damaging Het
Ndufs7 T A 10: 80,092,501 (GRCm39) Y203* probably null Het
Nup160 T A 2: 90,515,541 (GRCm39) probably null Het
Nup88 G A 11: 70,860,522 (GRCm39) R62* probably null Het
Or2g7 T C 17: 38,378,853 (GRCm39) S264P probably damaging Het
Or51af1 T A 7: 103,141,788 (GRCm39) Q99L probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Or8b8 T A 9: 37,809,622 (GRCm39) S307R probably benign Het
Or8g33 A G 9: 39,337,731 (GRCm39) M212T probably benign Het
Os9 T C 10: 126,934,223 (GRCm39) N471S probably benign Het
Otof C T 5: 30,529,244 (GRCm39) V1757M probably damaging Het
Pakap A T 4: 57,709,954 (GRCm39) T300S probably benign Het
Pald1 T C 10: 61,184,395 (GRCm39) T241A probably benign Het
Pappa2 G A 1: 158,642,015 (GRCm39) S1347L probably damaging Het
Pccb T C 9: 100,916,832 (GRCm39) T27A probably benign Het
Pde4dip A T 3: 97,603,260 (GRCm39) V2243D probably damaging Het
Pkd2l2 C A 18: 34,571,254 (GRCm39) Q590K probably benign Het
Pmepa1 G A 2: 173,070,120 (GRCm39) P145L possibly damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Rnf133 T C 6: 23,649,041 (GRCm39) E296G possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Slc46a2 C T 4: 59,911,886 (GRCm39) C442Y probably damaging Het
Slc7a1 A G 5: 148,278,869 (GRCm39) L301P probably damaging Het
Spg21 A G 9: 65,383,257 (GRCm39) T148A probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Sult1c2 C A 17: 54,280,983 (GRCm39) W40L probably benign Het
Sytl2 T C 7: 90,024,977 (GRCm39) S322P probably benign Het
Telo2 C A 17: 25,324,122 (GRCm39) R531L possibly damaging Het
Thbs3 T C 3: 89,131,897 (GRCm39) V719A probably damaging Het
Tmprss5 A G 9: 49,024,548 (GRCm39) N230D possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpo C T 12: 30,148,228 (GRCm39) V558M probably benign Het
Trex1 T G 9: 108,887,352 (GRCm39) Q213P possibly damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a6a A G 1: 88,066,586 (GRCm39) K131E probably benign Het
Vipr1 T A 9: 121,494,202 (GRCm39) probably null Het
Vmn1r22 T C 6: 57,877,860 (GRCm39) D39G probably damaging Het
Vmn2r58 A T 7: 41,522,046 (GRCm39) C17S probably benign Het
Vps41 T C 13: 18,929,453 (GRCm39) Y63H probably damaging Het
Xdh G T 17: 74,217,195 (GRCm39) T691N probably benign Het
Zfp518b T C 5: 38,830,970 (GRCm39) N345S probably damaging Het
Zfp536 T A 7: 37,267,918 (GRCm39) K499N probably damaging Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- CATCACCTGAGCCATCTGGAAG -3'
(R):5'- AGGTACCAAAGATGCTGAGC -3'

Sequencing Primer
(F):5'- TGAGCCATCTGGAAGGCCTG -3'
(R):5'- TACCAAAGATGCTGAGCTGTGC -3'
Posted On 2015-09-25