Incidental Mutation 'IGL03165:Tlr2'
ID 411594
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 # IGL03165
Quality Score
Status
Chromosome 3
Chromosomal Location 83743579-83749045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83745255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 276 (I276T)
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: I276T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: I276T

DomainStartEndE-ValueType
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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,475 (GRCm39) I334V probably benign Het
Axdnd1 T A 1: 156,205,959 (GRCm39) Y519F probably benign Het
C4b A G 17: 34,958,929 (GRCm39) F500S probably benign Het
Cacng2 A T 15: 77,879,863 (GRCm39) I153N possibly damaging Het
Ces1d T A 8: 93,916,147 (GRCm39) H160L probably benign Het
Cnnm3 T G 1: 36,564,313 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,781,720 (GRCm39) T728A probably damaging Het
Cyp2g1 G A 7: 26,509,201 (GRCm39) V92M possibly damaging Het
Dock2 C A 11: 34,578,360 (GRCm39) V35F probably damaging Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Erp44 C T 4: 48,236,872 (GRCm39) probably null Het
Flg2 C T 3: 93,121,918 (GRCm39) H1363Y unknown Het
Flnc G T 6: 29,449,377 (GRCm39) G1425W probably damaging Het
Frem3 A G 8: 81,339,158 (GRCm39) N484D probably benign Het
Fstl3 A G 10: 79,615,799 (GRCm39) D95G probably benign Het
Gldc A G 19: 30,076,393 (GRCm39) S1018P possibly damaging Het
Gstk1 T G 6: 42,226,368 (GRCm39) I159S probably benign Het
Herc2 A G 7: 55,841,660 (GRCm39) E3513G probably damaging Het
Hpca A T 4: 129,012,383 (GRCm39) I51N probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Igkv4-74 T C 6: 69,162,289 (GRCm39) probably benign Het
Kdm7a C A 6: 39,147,848 (GRCm39) probably benign Het
Or1e23 A T 11: 73,407,710 (GRCm39) L105* probably null Het
Or52z14 T C 7: 103,253,218 (GRCm39) I119T probably damaging Het
Or5al6 A C 2: 85,976,412 (GRCm39) L222R possibly damaging Het
Pa2g4 A T 10: 128,394,929 (GRCm39) probably null Het
Pdlim3 T A 8: 46,372,035 (GRCm39) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polk T A 13: 96,653,196 (GRCm39) Q68L probably benign Het
Ppfia2 T G 10: 106,603,348 (GRCm39) L195R probably damaging Het
Ranbp1 A T 16: 18,065,145 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm39) R606G possibly damaging Het
Ryr1 A G 7: 28,804,465 (GRCm39) V488A probably benign Het
Sall2 A T 14: 52,551,625 (GRCm39) D521E probably damaging Het
Sntg1 A T 1: 8,515,328 (GRCm39) C402S probably damaging Het
Spg7 T C 8: 123,807,551 (GRCm39) probably null Het
Stk31 G A 6: 49,422,198 (GRCm39) E750K probably damaging Het
Trav12-2 A T 14: 53,854,206 (GRCm39) H60L probably benign Het
Urb1 A G 16: 90,577,192 (GRCm39) L775S probably damaging Het
Utp14b A G 1: 78,642,237 (GRCm39) D45G probably damaging 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
IGL02940:Tlr2 APN 3 83,743,781 (GRCm39) missense probably benign 0.03
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 2016-08-02