Incidental Mutation 'R0071:Tlr9'
ID 43861
Institutional Source Beutler Lab
Gene Symbol Tlr9
Ensembl Gene ENSMUSG00000045322
Gene Name toll-like receptor 9
Synonyms
MMRRC Submission 038362-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0071 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106099797-106104075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106100777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 23 (T23A)
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 benign
Transcript: ENSMUST00000062241
AA Change: T23A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: T23A

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 0.1340 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.2%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,812,746 (GRCm39) probably benign Het
Acot12 T C 13: 91,929,293 (GRCm39) probably benign Het
Acrbp T C 6: 125,027,915 (GRCm39) probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Aox3 T A 1: 58,211,050 (GRCm39) C931* probably null Het
Apob T A 12: 8,052,111 (GRCm39) V1184E probably damaging Het
Arhgap44 A T 11: 64,902,721 (GRCm39) L582Q possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Bccip A G 7: 133,315,960 (GRCm39) D72G probably damaging Het
Bckdha A T 7: 25,329,868 (GRCm39) probably null Het
Bmerb1 A G 16: 13,906,818 (GRCm39) D11G probably damaging Het
Cald1 C T 6: 34,735,069 (GRCm39) probably benign Het
Cby2 A G 14: 75,821,621 (GRCm39) S44P probably benign Het
Cdk11b T C 4: 155,733,880 (GRCm39) probably benign Het
Cebpe G T 14: 54,948,061 (GRCm39) R261S probably damaging Het
Cep95 C T 11: 106,681,554 (GRCm39) probably benign Het
Chi3l1 T C 1: 134,113,017 (GRCm39) Y150H probably benign Het
Chrnd T C 1: 87,120,559 (GRCm39) probably benign Het
Clec4g T A 8: 3,767,489 (GRCm39) probably benign Het
Cog2 T C 8: 125,275,407 (GRCm39) probably benign Het
Coro7 A T 16: 4,488,391 (GRCm39) L93Q probably damaging Het
Csmd3 T C 15: 47,460,217 (GRCm39) T3525A probably benign Het
Ctsc G A 7: 87,957,357 (GRCm39) probably benign Het
Dnajc16 T C 4: 141,495,318 (GRCm39) T467A probably benign Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Fam227b T A 2: 125,965,994 (GRCm39) N144Y probably benign Het
Fam83h A G 15: 75,874,377 (GRCm39) S987P probably benign Het
Fhod1 A T 8: 106,063,857 (GRCm39) probably null Het
Folr1 A G 7: 101,513,130 (GRCm39) probably null Het
Glis3 C T 19: 28,241,255 (GRCm39) probably benign Het
Gm10069 T C 6: 128,449,688 (GRCm39) noncoding transcript Het
Golgb1 G A 16: 36,735,865 (GRCm39) R1704Q probably benign Het
Gpr158 C A 2: 21,815,479 (GRCm39) T624K probably benign Het
Helz2 T C 2: 180,878,200 (GRCm39) Y866C probably damaging Het
Itpkb T A 1: 180,160,330 (GRCm39) V152E probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Klhl32 A G 4: 24,743,907 (GRCm39) V88A probably damaging Het
Lct C T 1: 128,219,755 (GRCm39) W1631* probably null Het
Lipa T A 19: 34,472,482 (GRCm39) K313M probably damaging Het
Ly75 T C 2: 60,152,163 (GRCm39) K1130R probably benign Het
Mamdc2 C A 19: 23,280,994 (GRCm39) E685* probably null Het
Mdm1 A G 10: 117,982,701 (GRCm39) E112G probably damaging Het
Metrnl A T 11: 121,606,826 (GRCm39) M212L probably benign Het
Mettl2 A G 11: 105,022,468 (GRCm39) probably benign Het
Mxd3 A T 13: 55,477,449 (GRCm39) L11Q probably damaging Het
Myo7a A T 7: 97,706,037 (GRCm39) Y1836N probably damaging Het
Nsun7 A G 5: 66,421,388 (GRCm39) Y118C probably benign Het
Obscn G A 11: 58,955,027 (GRCm39) T3962M possibly damaging Het
Or13a20 A T 7: 140,232,170 (GRCm39) I93F probably benign Het
Or2d36 A G 7: 106,746,919 (GRCm39) Y132C probably damaging Het
Or5k3 C A 16: 58,969,578 (GRCm39) R122S probably benign Het
Osbpl11 T C 16: 33,034,708 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,131 (GRCm39) D276V probably damaging Het
Pik3cb A T 9: 98,926,918 (GRCm39) D886E probably benign Het
Pkhd1 T A 1: 20,271,568 (GRCm39) Y2995F probably benign Het
Raver2 C T 4: 100,977,642 (GRCm39) probably benign Het
Rhbdf1 A G 11: 32,160,498 (GRCm39) L684P probably damaging Het
Rufy2 C A 10: 62,824,946 (GRCm39) L75M possibly damaging Het
Sec22c A G 9: 121,521,979 (GRCm39) F44L probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina1a T C 12: 103,822,002 (GRCm39) K310R probably benign Het
Shoc1 A G 4: 59,059,643 (GRCm39) Y1006H possibly damaging Het
Sobp A G 10: 43,033,993 (GRCm39) L111P probably damaging Het
Sparcl1 G T 5: 104,233,707 (GRCm39) Y547* probably null Het
Spata31d1b G A 13: 59,863,163 (GRCm39) A104T probably benign Het
Spsb3 A G 17: 25,106,878 (GRCm39) D184G probably damaging Het
Sptan1 A T 2: 29,893,354 (GRCm39) K1148* probably null Het
Tdrd12 A G 7: 35,228,671 (GRCm39) V17A possibly damaging Het
Tra2b A T 16: 22,073,151 (GRCm39) probably benign Het
Tspan15 A G 10: 62,038,849 (GRCm39) probably benign Het
Ttc41 A G 10: 86,572,710 (GRCm39) N694S probably benign Het
Ttn T G 2: 76,597,813 (GRCm39) D19700A probably damaging Het
Ube3b G A 5: 114,557,558 (GRCm39) G1014D probably damaging Het
Unc5d A G 8: 29,209,854 (GRCm39) V422A possibly damaging Het
Vmn2r80 C T 10: 79,007,566 (GRCm39) T514I possibly damaging Het
Zfp595 T C 13: 67,464,917 (GRCm39) K452E possibly damaging Het
Zfp607a A G 7: 27,577,694 (GRCm39) K255E probably damaging Het
Zxdc T G 6: 90,347,398 (GRCm39) V253G 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
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
Predicted Primers PCR Primer
(F):5'- GAAGCCCTGAAGAAAGTCCCAGTG -3'
(R):5'- AGCTCAAGTTCAGCTCCTCCAGTG -3'

Sequencing Primer
(F):5'- CTGAAGAAAGTCCCAGTGTGGAG -3'
(R):5'- ACAGTTCCACTTGAGGTTCAGC -3'
Posted On 2013-05-29