Incidental Mutation 'IGL02940:Tlr2'
ID 364460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr2
Ensembl Gene ENSMUSG00000027995
Gene Name toll-like receptor 2
Synonyms Ly105
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02940
Quality Score
Chromosome 3
Chromosomal Location 83743579-83749045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83743781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 767 (D767E)
Ref Sequence ENSEMBL: ENSMUSP00000029623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029623]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029623
AA Change: D767E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: D767E

LRR 51 74 1.45e2 SMART
LRR 75 98 2.33e2 SMART
LRR_TYP 99 122 3.69e-4 SMART
low complexity region 268 281 N/A INTRINSIC
LRR 359 384 6.78e1 SMART
LRR 386 409 2.54e2 SMART
LRR 412 435 8.49e1 SMART
LRR_TYP 476 499 3.34e-2 SMART
LRRCT 533 586 5.04e-7 SMART
transmembrane domain 588 610 N/A INTRINSIC
TIR 640 784 5.08e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193706
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. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice demonstrate abnormal responses to bacterial and viral infections. Mice homozygous for a knock-out allele also exhibit disruption in circadian active and inactive state consolidation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 T A 8: 95,760,084 (GRCm39) V101D possibly damaging Het
Brca1 T C 11: 101,380,738 (GRCm39) D1765G probably benign Het
Cadps2 T C 6: 23,496,808 (GRCm39) K450R probably benign Het
Cc2d2a A T 5: 43,885,636 (GRCm39) probably null Het
Dbh A G 2: 27,058,321 (GRCm39) Y163C probably damaging Het
Drc7 T A 8: 95,800,925 (GRCm39) I649N probably damaging Het
Dst G A 1: 34,328,668 (GRCm39) A7097T probably benign Het
Fbxo46 A G 7: 18,869,537 (GRCm39) H52R probably benign Het
Gm9944 T C 4: 144,179,709 (GRCm39) probably benign Het
Lsm14a G T 7: 34,070,596 (GRCm39) S100* probably null Het
Mrc2 C T 11: 105,231,997 (GRCm39) R850C probably damaging Het
Musk A G 4: 58,373,364 (GRCm39) D763G probably damaging Het
Ncan C T 8: 70,562,735 (GRCm39) V508I probably benign Het
Or4k35 A T 2: 111,100,073 (GRCm39) L213Q probably damaging Het
Pgls C T 8: 72,046,741 (GRCm39) S18L probably damaging Het
Phf20l1 A G 15: 66,467,000 (GRCm39) T98A probably damaging Het
Ppp1r36dn A C 12: 76,497,944 (GRCm39) noncoding transcript Het
Prdm13 T A 4: 21,683,421 (GRCm39) K180* probably null Het
Rai1 T C 11: 60,077,844 (GRCm39) V636A probably benign Het
Setd5 T C 6: 113,091,899 (GRCm39) F240S possibly damaging Het
Slco1a5 A G 6: 142,187,731 (GRCm39) L536P probably damaging Het
Stk39 C T 2: 68,051,243 (GRCm39) probably null Het
Tenm2 T C 11: 35,932,471 (GRCm39) T1707A probably damaging Het
Tlr7 C T X: 166,090,830 (GRCm39) V219I probably benign Het
Tmprss7 A G 16: 45,476,818 (GRCm39) S815P probably damaging Het
Trav12-1 T A 14: 53,776,017 (GRCm39) W57R probably damaging Het
Uxt T C X: 20,826,025 (GRCm39) E66G possibly damaging Het
Vmn2r45 A T 7: 8,475,369 (GRCm39) M553K probably damaging Het
Vmn2r67 A G 7: 84,785,951 (GRCm39) W685R probably benign Het
Vstm5 A C 9: 15,168,962 (GRCm39) D144A probably damaging Het
Zfp592 A G 7: 80,674,575 (GRCm39) H513R probably damaging Het
Zfp830 T A 11: 82,656,295 (GRCm39) probably benign Het
Zfp990 A G 4: 145,261,492 (GRCm39) probably null Het
Other mutations in Tlr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Tlr2 APN 3 83,744,301 (GRCm39) missense probably benign
IGL02160:Tlr2 APN 3 83,744,678 (GRCm39) missense possibly damaging 0.47
IGL02405:Tlr2 APN 3 83,743,981 (GRCm39) missense probably damaging 1.00
IGL03165:Tlr2 APN 3 83,745,255 (GRCm39) missense probably benign 0.00
languid UTSW 3 83,744,622 (GRCm39) missense probably damaging 1.00
G1patch:Tlr2 UTSW 3 83,745,603 (GRCm39) missense probably benign
PIT4131001:Tlr2 UTSW 3 83,745,756 (GRCm39) missense probably benign 0.34
R1177:Tlr2 UTSW 3 83,746,041 (GRCm39) missense probably benign 0.02
R1251:Tlr2 UTSW 3 83,745,576 (GRCm39) missense possibly damaging 0.64
R1346:Tlr2 UTSW 3 83,743,900 (GRCm39) missense probably damaging 0.99
R1553:Tlr2 UTSW 3 83,744,770 (GRCm39) missense probably benign
R1613:Tlr2 UTSW 3 83,744,660 (GRCm39) missense probably damaging 1.00
R1816:Tlr2 UTSW 3 83,745,516 (GRCm39) missense probably damaging 1.00
R2312:Tlr2 UTSW 3 83,744,847 (GRCm39) missense probably damaging 1.00
R3023:Tlr2 UTSW 3 83,745,178 (GRCm39) missense probably benign
R4724:Tlr2 UTSW 3 83,745,492 (GRCm39) missense probably damaging 1.00
R4950:Tlr2 UTSW 3 83,744,639 (GRCm39) missense probably damaging 1.00
R5109:Tlr2 UTSW 3 83,745,030 (GRCm39) missense probably damaging 1.00
R5764:Tlr2 UTSW 3 83,745,819 (GRCm39) missense probably damaging 1.00
R5859:Tlr2 UTSW 3 83,743,810 (GRCm39) missense possibly damaging 0.94
R6169:Tlr2 UTSW 3 83,745,455 (GRCm39) missense probably benign
R6236:Tlr2 UTSW 3 83,745,438 (GRCm39) missense probably benign
R6384:Tlr2 UTSW 3 83,744,301 (GRCm39) missense probably benign
R6564:Tlr2 UTSW 3 83,745,002 (GRCm39) missense probably benign 0.05
R6725:Tlr2 UTSW 3 83,745,603 (GRCm39) missense probably benign
R7032:Tlr2 UTSW 3 83,745,212 (GRCm39) missense probably benign 0.01
R7256:Tlr2 UTSW 3 83,744,913 (GRCm39) missense possibly damaging 0.93
R7571:Tlr2 UTSW 3 83,743,849 (GRCm39) missense probably damaging 1.00
R7970:Tlr2 UTSW 3 83,745,201 (GRCm39) missense probably benign 0.01
R8191:Tlr2 UTSW 3 83,743,822 (GRCm39) missense probably damaging 0.99
R8191:Tlr2 UTSW 3 83,743,821 (GRCm39) missense probably damaging 1.00
R8217:Tlr2 UTSW 3 83,745,373 (GRCm39) missense probably benign 0.17
R8218:Tlr2 UTSW 3 83,745,546 (GRCm39) missense probably damaging 1.00
R8834:Tlr2 UTSW 3 83,746,020 (GRCm39) missense probably benign
R8894:Tlr2 UTSW 3 83,744,091 (GRCm39) missense probably damaging 1.00
R8922:Tlr2 UTSW 3 83,745,075 (GRCm39) missense probably benign 0.02
R9417:Tlr2 UTSW 3 83,744,892 (GRCm39) missense probably damaging 1.00
R9447:Tlr2 UTSW 3 83,748,445 (GRCm39) critical splice acceptor site probably null
R9648:Tlr2 UTSW 3 83,745,840 (GRCm39) missense probably damaging 1.00
Z1177:Tlr2 UTSW 3 83,743,914 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18