Incidental Mutation 'R9689:Tlr9'
ID 729053
Institutional Source Beutler Lab
Gene Symbol Tlr9
Ensembl Gene ENSMUSG00000045322
Gene Name toll-like receptor 9
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106222598-106226883 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106223522 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 4 (R4H)
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: R4H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: R4H

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T A 6: 149,328,268 C937* probably null Het
Adgrl3 T A 5: 81,794,933 V1538E probably damaging Het
Ank1 T C 8: 23,141,237 V1833A probably benign Het
Apc2 G A 10: 80,314,899 R1929Q probably damaging Het
Asb1 A G 1: 91,546,986 I85V probably damaging Het
Bco2 A T 9: 50,534,638 I486K probably damaging Het
Braf T A 6: 39,614,150 I792F probably damaging Het
Cacng2 T C 15: 77,995,199 K308E possibly damaging Het
Ccr6 G T 17: 8,256,989 R342L possibly damaging Het
Cdh16 T A 8: 104,614,476 I802F probably benign Het
Cftr T C 6: 18,313,650 I1291T probably damaging Het
CN725425 T A 15: 91,235,827 D50E possibly damaging Het
Cnga1 T C 5: 72,604,827 Y448C probably benign Het
Cntnap1 T C 11: 101,181,352 I477T probably damaging Het
Col18a1 G A 10: 77,080,744 Q366* probably null Het
Csf3 C A 11: 98,702,123 A104D probably benign Het
Dmbt1 A G 7: 131,058,285 H422R unknown Het
Dnah12 A G 14: 26,868,914 D3325G probably null Het
Dnah17 T C 11: 118,072,905 D2514G probably damaging Het
Fam160b1 G A 19: 57,381,278 V418I probably benign Het
Fgf9 T A 14: 58,073,223 H56Q probably damaging Het
Fgfr3 A T 5: 33,734,904 Y689F probably damaging Het
Gar1 A T 3: 129,830,620 D74E probably damaging Het
Helq T C 5: 100,787,061 K488E possibly damaging Het
Hmg20a A G 9: 56,474,539 H33R possibly damaging Het
Igsf10 T C 3: 59,326,203 D1703G probably damaging Het
Jph3 A T 8: 121,753,638 I352F probably benign Het
Kng1 T C 16: 23,060,474 F96S probably damaging Het
Krtap5-2 C A 7: 142,175,292 S217I unknown Het
Lamp3 T C 16: 19,699,705 S261G possibly damaging Het
Macf1 A G 4: 123,471,861 F3036L probably benign Het
Map4k4 G A 1: 40,019,562 R972H possibly damaging Het
Mccc1 C T 3: 35,976,754 D388N probably benign Het
Mcoln1 T A 8: 3,507,436 Y147* probably null Het
Mei1 T C 15: 82,112,928 S622P Het
Ms4a5 T C 19: 11,276,694 I136M possibly damaging Het
Nav3 A G 10: 109,769,173 L1013P probably damaging Het
Ndrg2 T C 14: 51,908,614 N170S probably damaging Het
Ndufa12 G A 10: 94,199,970 G40D probably damaging Het
Ogdhl T A 14: 32,337,566 V390E probably damaging Het
Olfr1310 T A 2: 112,008,779 M136L probably benign Het
Olfr1335 A C 4: 118,809,802 S21A probably benign Het
Olfr1425 A T 19: 12,074,203 I143K possibly damaging Het
Olfr385 T C 11: 73,588,860 R293G probably damaging Het
Olfr970 A T 9: 39,820,505 I289F possibly damaging Het
Osgin1 A G 8: 119,445,508 D347G possibly damaging Het
Oxct2a A T 4: 123,322,894 N231K probably damaging Het
Pak6 C T 2: 118,689,762 T78M probably benign Het
Pde4dip T C 3: 97,742,525 Y1006C probably damaging Het
Psg18 A G 7: 18,350,955 I193T probably benign Het
Psmd2 C A 16: 20,660,423 H677Q probably benign Het
Scaf11 C T 15: 96,418,314 R1123H probably damaging Het
Setx A T 2: 29,161,543 S2036C probably damaging Het
Skint6 A G 4: 113,236,349 F199S probably damaging Het
Slc3a2 A T 19: 8,709,230 S367R probably damaging Het
Spidr T C 16: 16,053,440 D222G probably damaging Het
Styxl1 T C 5: 135,770,336 E8G probably null Het
Sycp2l T A 13: 41,141,780 F308I probably damaging Het
Syk A C 13: 52,624,772 K298T probably benign Het
Tcp11 T A 17: 28,067,054 Q529L possibly damaging Het
Tgfbi A G 13: 56,614,287 Y61C probably damaging Het
Top2a A C 11: 99,024,057 S4A probably benign Het
Ttc4 G T 4: 106,671,722 H166N probably benign Het
Ube2o C A 11: 116,544,813 R383L possibly damaging Het
Umod A G 7: 119,477,294 V83A possibly damaging Het
Other mutations in Tlr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Tlr9 APN 9 106225007 missense probably damaging 1.00
IGL01764:Tlr9 APN 9 106225805 missense probably damaging 1.00
IGL02077:Tlr9 APN 9 106225505 missense possibly damaging 0.90
IGL02232:Tlr9 APN 9 106224937 missense probably damaging 1.00
IGL02851:Tlr9 APN 9 106224730 nonsense probably null
Asura UTSW 9 106224647 missense probably damaging 1.00
Cpg1 UTSW 9 106225007 missense probably damaging 1.00
Cpg11 UTSW 9 106224586 missense probably damaging 1.00
Cpg2 UTSW 9 106226465 missense probably damaging 1.00
Cpg3 UTSW 9 106224152 missense probably damaging 1.00
Cpg5 UTSW 9 106224689 missense probably damaging 1.00
Cpg6 UTSW 9 106226593 missense probably damaging 1.00
cpg7 UTSW 9 106225349 missense probably benign 0.00
Meager UTSW 9 106224139 missense probably damaging 1.00
PIT4498001:Tlr9 UTSW 9 106223522 missense probably benign 0.00
R0058:Tlr9 UTSW 9 106224965 missense possibly damaging 0.90
R0058:Tlr9 UTSW 9 106224965 missense possibly damaging 0.90
R0071:Tlr9 UTSW 9 106223578 missense probably benign
R0071:Tlr9 UTSW 9 106223578 missense probably benign
R0126:Tlr9 UTSW 9 106225682 missense probably benign 0.01
R0165:Tlr9 UTSW 9 106226087 missense probably benign 0.10
R0534:Tlr9 UTSW 9 106224887 missense probably benign 0.01
R0585:Tlr9 UTSW 9 106225076 missense probably benign 0.01
R1527:Tlr9 UTSW 9 106223750 missense probably benign 0.09
R1712:Tlr9 UTSW 9 106224049 missense probably damaging 1.00
R1817:Tlr9 UTSW 9 106224943 missense probably benign
R1940:Tlr9 UTSW 9 106224647 missense probably damaging 1.00
R2117:Tlr9 UTSW 9 106225337 missense probably damaging 1.00
R2656:Tlr9 UTSW 9 106223941 missense probably benign 0.05
R3700:Tlr9 UTSW 9 106224079 missense probably damaging 1.00
R4600:Tlr9 UTSW 9 106224533 missense probably damaging 1.00
R4608:Tlr9 UTSW 9 106224974 missense probably damaging 0.99
R4612:Tlr9 UTSW 9 106223807 missense probably damaging 1.00
R4959:Tlr9 UTSW 9 106224677 missense probably benign
R5173:Tlr9 UTSW 9 106225952 missense possibly damaging 0.49
R5472:Tlr9 UTSW 9 106224313 missense probably damaging 1.00
R5572:Tlr9 UTSW 9 106225637 missense possibly damaging 0.47
R5618:Tlr9 UTSW 9 106224739 missense possibly damaging 0.47
R5820:Tlr9 UTSW 9 106222707 critical splice donor site probably null
R6393:Tlr9 UTSW 9 106224937 missense probably damaging 1.00
R6397:Tlr9 UTSW 9 106225106 missense probably damaging 1.00
R6455:Tlr9 UTSW 9 106223999 missense probably damaging 1.00
R7385:Tlr9 UTSW 9 106225264 missense probably damaging 1.00
R7455:Tlr9 UTSW 9 106224530 missense probably benign 0.00
R7561:Tlr9 UTSW 9 106225949 missense probably benign 0.00
R8889:Tlr9 UTSW 9 106222635 start gained probably benign
R8892:Tlr9 UTSW 9 106222635 start gained probably benign
R8926:Tlr9 UTSW 9 106226014 missense probably benign
R9221:Tlr9 UTSW 9 106224773 missense probably damaging 1.00
R9228:Tlr9 UTSW 9 106225553 missense possibly damaging 0.49
R9581:Tlr9 UTSW 9 106224311 missense probably damaging 1.00
R9697:Tlr9 UTSW 9 106223524 nonsense probably null
R9788:Tlr9 UTSW 9 106223807 missense probably damaging 1.00
Z1176:Tlr9 UTSW 9 106223663 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGCTGTGCCTAAACCCAAATG -3'
(R):5'- AAGTCAGAGTTGTGCAGGTG -3'

Sequencing Primer
(F):5'- CAAATGGTGGATCTGAGTAGCTAG -3'
(R):5'- TGGATACGGTTGGAGATCAAG -3'
Posted On 2022-10-06