Incidental Mutation 'IGL02851:Tlr9'
ID 361876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr9
Ensembl Gene ENSMUSG00000045322
Gene Name toll-like receptor 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02851
Quality Score
Status
Chromosome 9
Chromosomal Location 106222598-106226883 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 106224730 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 407 (Q407*)
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 null
Transcript: ENSMUST00000062241
AA Change: Q407*
SMART Domains Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: Q407*

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 T C 12: 112,657,084 E314G probably damaging Het
Amtn C A 5: 88,381,622 Q106K probably benign Het
Birc6 T C 17: 74,609,189 F1700S probably damaging Het
Brdt T C 5: 107,377,995 S905P possibly damaging Het
Ccdc68 C T 18: 69,947,165 Q194* probably null Het
Cdc27 A G 11: 104,526,981 probably benign Het
Cdh13 A G 8: 118,675,158 T100A probably benign Het
Cdsn A G 17: 35,555,894 H440R possibly damaging Het
Cenpf C A 1: 189,658,030 D1202Y probably damaging Het
Chat C A 14: 32,458,613 V21L probably benign Het
Clca4c-ps T A 3: 144,879,732 noncoding transcript Het
Cst9 A G 2: 148,835,283 I25V probably benign Het
Dennd1b C A 1: 139,168,967 probably benign Het
Dnah9 A G 11: 66,037,744 probably benign Het
Dpp3 T G 19: 4,923,131 Q145P probably benign Het
Elovl5 C T 9: 77,981,502 T217M probably damaging Het
Etl4 T C 2: 20,808,029 V906A possibly damaging Het
Gm10647 C T 9: 66,798,261 probably benign Het
Gm6614 C T 6: 142,003,471 G60R probably damaging Het
Grm5 A G 7: 88,074,710 N736S probably damaging Het
Hectd1 A G 12: 51,767,640 S1638P possibly damaging Het
Hsd3b2 T G 3: 98,716,424 E46A possibly damaging Het
Igkv15-103 A G 6: 68,437,690 T38A probably benign Het
Itpr2 C A 6: 146,385,979 V450L probably damaging Het
Kbtbd12 T C 6: 88,618,329 H173R probably benign Het
Man1a G A 10: 53,919,244 R638W probably damaging Het
Mterf2 A T 10: 85,120,014 S249T probably damaging Het
Muc6 T C 7: 141,648,361 D700G probably damaging Het
Myh13 A G 11: 67,348,916 H764R possibly damaging Het
Myh7b A G 2: 155,628,827 D1065G probably damaging Het
Naip1 C A 13: 100,433,262 W288L probably damaging Het
Naip6 C A 13: 100,300,660 A452S probably benign Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Olfr63 T A 17: 33,269,354 I210K probably benign Het
Olfr90 T C 17: 37,086,156 probably null Het
Os9 G A 10: 127,099,393 probably benign Het
Parp4 T C 14: 56,648,869 S1802P unknown Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Plekha7 G T 7: 116,135,178 A1024E probably damaging Het
R3hdm1 T C 1: 128,174,940 probably benign Het
Robo4 T C 9: 37,413,382 S1022P probably damaging Het
Sc5d T C 9: 42,255,394 N283S probably benign Het
Scn10a C T 9: 119,671,608 V202M probably damaging Het
Spag16 T C 1: 70,264,908 I366T possibly damaging Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Trappc12 G A 12: 28,691,406 S768L probably damaging Het
Vmn2r44 A T 7: 8,383,051 L63Q probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign 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
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
Z1176:Tlr9 UTSW 9 106223663 missense probably benign 0.03
Posted On 2015-12-18