Incidental Mutation 'R4608:Tlr9'
ID 350896
Institutional Source Beutler Lab
Gene Symbol Tlr9
Ensembl Gene ENSMUSG00000045322
Gene Name toll-like receptor 9
Synonyms
MMRRC Submission 041819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4608 (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 106102173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 488 (I488N)
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: I488N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: I488N

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik A G 11: 109,308,855 (GRCm39) I74V unknown Het
Acss3 T A 10: 106,802,890 (GRCm39) I452F possibly damaging Het
Adam10 T C 9: 70,651,173 (GRCm39) L66P probably damaging Het
Adamts18 A T 8: 114,464,245 (GRCm39) C738S probably damaging Het
Adamts7 T G 9: 90,056,593 (GRCm39) S221A probably damaging Het
Adrm1 A G 2: 179,816,648 (GRCm39) probably benign Het
Aqp1 T C 6: 55,313,624 (GRCm39) V50A possibly damaging Het
Aqp4 T C 18: 15,531,183 (GRCm39) I193V probably benign Het
B130006D01Rik A T 11: 95,617,066 (GRCm39) probably benign Het
Bbs10 T G 10: 111,136,681 (GRCm39) I598S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Ccdc121rt2 A G 5: 112,597,764 (GRCm39) S104G possibly damaging Het
Ccnl1 C T 3: 65,854,131 (GRCm39) probably benign Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcdc2a T A 13: 25,245,223 (GRCm39) L100* probably null Het
Eif4g3 G T 4: 137,853,769 (GRCm39) R618L probably benign Het
F5 C T 1: 164,036,598 (GRCm39) P1920S probably benign Het
Fam187b T A 7: 30,677,170 (GRCm39) N226K probably benign Het
Fancc C A 13: 63,479,637 (GRCm39) probably benign Het
Fastk G T 5: 24,648,117 (GRCm39) P233H probably damaging Het
Fbn1 A C 2: 125,148,420 (GRCm39) D2609E probably benign Het
Fes G A 7: 80,036,959 (GRCm39) R42W probably damaging Het
Fmnl2 T A 2: 52,993,728 (GRCm39) N374K possibly damaging Het
Fpgt G A 3: 154,792,333 (GRCm39) Q565* probably null Het
Gckr A G 5: 31,465,141 (GRCm39) D370G probably damaging Het
Ggt6 T C 11: 72,328,769 (GRCm39) M385T probably benign Het
Gm26657 C A 4: 56,741,114 (GRCm39) H100N probably benign Het
Gsg1l T A 7: 125,557,721 (GRCm39) I136F probably damaging Het
Hhip C T 8: 80,724,192 (GRCm39) R350Q probably damaging Het
Ints1 C T 5: 139,745,599 (GRCm39) S1353N probably benign Het
Ints10 G A 8: 69,263,271 (GRCm39) R394Q probably damaging Het
Ints6 T G 14: 62,940,678 (GRCm39) R557S probably damaging Het
Ints9 T A 14: 65,269,729 (GRCm39) I473N possibly damaging Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kif1a C A 1: 92,952,368 (GRCm39) A1304S possibly damaging Het
Kif21b C T 1: 136,075,924 (GRCm39) probably benign Het
Klk13 C A 7: 43,363,284 (GRCm39) C10* probably null Het
Krtap4-8 C T 11: 99,671,321 (GRCm39) probably benign Het
Lef1 T C 3: 130,978,382 (GRCm39) S167P probably benign Het
Leng8 T A 7: 4,147,796 (GRCm39) I607N probably damaging Het
Lrch4 T A 5: 137,637,408 (GRCm39) L526* probably null Het
Memo1 G A 17: 74,565,456 (GRCm39) Q36* probably null Het
Nod1 C A 6: 54,920,741 (GRCm39) A526S probably damaging Het
Nostrin G A 2: 69,014,243 (GRCm39) V400M possibly damaging Het
Nrip1 T C 16: 76,089,920 (GRCm39) T546A probably benign Het
Nxf1 A G 19: 8,740,127 (GRCm39) D98G probably benign Het
Or13a24 A G 7: 140,154,554 (GRCm39) M163V probably benign Het
Or1l4 T A 2: 37,092,094 (GRCm39) Y280* probably null Het
Or2h2b-ps1 A T 17: 37,481,173 (GRCm39) V20E probably damaging Het
Or2t1 A G 14: 14,328,887 (GRCm38) M259V probably benign Het
Or4c114 G T 2: 88,904,656 (GRCm39) P260T probably benign Het
Or6aa1 A T 7: 86,043,718 (GRCm39) probably null Het
Osgep T C 14: 51,155,378 (GRCm39) Y60C probably damaging Het
P2ry6 A G 7: 100,587,511 (GRCm39) Y283H probably damaging Het
Pcdha7 A T 18: 37,108,870 (GRCm39) S632C possibly damaging Het
Pms1 T A 1: 53,234,097 (GRCm39) R806S possibly damaging Het
Qars1 T A 9: 108,386,625 (GRCm39) probably null Het
Rxfp1 T C 3: 79,594,196 (GRCm39) N66S probably damaging Het
Slc12a5 A T 2: 164,815,685 (GRCm39) N67I probably damaging Het
Slc1a4 G T 11: 20,254,348 (GRCm39) T506K probably damaging Het
Stimate C A 14: 30,594,490 (GRCm39) probably benign Het
Tmem74 G T 15: 43,730,554 (GRCm39) T163K probably damaging Het
Uba2 T C 7: 33,854,021 (GRCm39) D307G probably damaging Het
Uty C T Y: 1,131,134 (GRCm39) R924Q probably damaging Het
Wdr7 C T 18: 63,910,651 (GRCm39) T681I probably benign Het
Xab2 A G 8: 3,668,105 (GRCm39) S158P probably benign Het
Ythdc1 T C 5: 86,970,667 (GRCm39) S418P probably damaging Het
Zfand4 T A 6: 116,305,195 (GRCm39) C207* probably null Het
Zfp367 C T 13: 64,283,238 (GRCm39) D305N probably damaging Het
Zfp804b C T 5: 6,822,584 (GRCm39) V160I probably benign 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
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'- CTTCAACGCTGTCAGAAGCC -3'
(R):5'- CTTCATGCTAAAGGGCTGGC -3'

Sequencing Primer
(F):5'- CACCCCTGAAGAGGCAGATG -3'
(R):5'- CAACTGTGGTAGCTCACTGAACG -3'
Posted On 2015-10-08