Incidental Mutation 'IGL03165:Tlr2'
ID411594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr2
Ensembl Gene ENSMUSG00000027995
Gene Nametoll-like receptor 2
SynonymsLy105
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03165
Quality Score
Status
Chromosome3
Chromosomal Location83836272-83841767 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83837948 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 276 (I276T)
Ref Sequence ENSEMBL: ENSMUSP00000029623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029623]
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: 25,094,394 I334V probably benign Het
Axdnd1 T A 1: 156,378,389 Y519F probably benign Het
C4b A G 17: 34,739,955 F500S probably benign Het
Cacng2 A T 15: 77,995,663 I153N possibly damaging Het
Ces1d T A 8: 93,189,519 H160L probably benign Het
Cnnm3 T G 1: 36,525,232 probably benign Het
Ctnna3 A G 10: 64,945,941 T728A probably damaging Het
Cyp2g1 G A 7: 26,809,776 V92M possibly damaging Het
Dock2 C A 11: 34,687,533 V35F probably damaging Het
Eif2a C A 3: 58,548,628 Y349* probably null Het
Erp44 C T 4: 48,236,872 probably null Het
Flg2 C T 3: 93,214,611 H1363Y unknown Het
Flnc G T 6: 29,449,378 G1425W probably damaging Het
Frem3 A G 8: 80,612,529 N484D probably benign Het
Fstl3 A G 10: 79,779,965 D95G probably benign Het
Gldc A G 19: 30,098,993 S1018P possibly damaging Het
Gstk1 T G 6: 42,249,434 I159S probably benign Het
Herc2 A G 7: 56,191,912 E3513G probably damaging Het
Hpca A T 4: 129,118,590 I51N probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Igkv4-74 T C 6: 69,185,305 probably benign Het
Kdm7a C A 6: 39,170,914 probably benign Het
Olfr1040 A C 2: 86,146,068 L222R possibly damaging Het
Olfr382 A T 11: 73,516,884 L105* probably null Het
Olfr619 T C 7: 103,604,011 I119T probably damaging Het
Pa2g4 A T 10: 128,559,060 probably null Het
Pdlim3 T A 8: 45,918,998 L360Q possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polk T A 13: 96,516,688 Q68L probably benign Het
Ppfia2 T G 10: 106,767,487 L195R probably damaging Het
Ranbp1 A T 16: 18,247,281 probably benign Het
Rbm12b1 A G 4: 12,145,845 R606G possibly damaging Het
Ryr1 A G 7: 29,105,040 V488A probably benign Het
Sall2 A T 14: 52,314,168 D521E probably damaging Het
Sntg1 A T 1: 8,445,104 C402S probably damaging Het
Spg7 T C 8: 123,080,812 probably null Het
Stk31 G A 6: 49,445,264 E750K probably damaging Het
Trav12-2 A T 14: 53,616,749 H60L probably benign Het
Urb1 A G 16: 90,780,304 L775S probably damaging Het
Utp14b A G 1: 78,664,520 D45G probably damaging Het
Other mutations in Tlr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Tlr2 APN 3 83836994 missense probably benign
IGL02160:Tlr2 APN 3 83837371 missense possibly damaging 0.47
IGL02405:Tlr2 APN 3 83836674 missense probably damaging 1.00
IGL02940:Tlr2 APN 3 83836474 missense probably benign 0.03
languid UTSW 3 83837315 missense probably damaging 1.00
PIT4131001:Tlr2 UTSW 3 83838449 missense probably benign 0.34
R1177:Tlr2 UTSW 3 83838734 missense probably benign 0.02
R1251:Tlr2 UTSW 3 83838269 missense possibly damaging 0.64
R1346:Tlr2 UTSW 3 83836593 missense probably damaging 0.99
R1553:Tlr2 UTSW 3 83837463 missense probably benign
R1613:Tlr2 UTSW 3 83837353 missense probably damaging 1.00
R1816:Tlr2 UTSW 3 83838209 missense probably damaging 1.00
R2312:Tlr2 UTSW 3 83837540 missense probably damaging 1.00
R3023:Tlr2 UTSW 3 83837871 missense probably benign
R4724:Tlr2 UTSW 3 83838185 missense probably damaging 1.00
R4950:Tlr2 UTSW 3 83837332 missense probably damaging 1.00
R5109:Tlr2 UTSW 3 83837723 missense probably damaging 1.00
R5764:Tlr2 UTSW 3 83838512 missense probably damaging 1.00
R5859:Tlr2 UTSW 3 83836503 missense possibly damaging 0.94
R6169:Tlr2 UTSW 3 83838148 missense probably benign
R6236:Tlr2 UTSW 3 83838131 missense probably benign
R6384:Tlr2 UTSW 3 83836994 missense probably benign
R6564:Tlr2 UTSW 3 83837695 missense probably benign 0.05
R6725:Tlr2 UTSW 3 83838296 missense probably benign
R7032:Tlr2 UTSW 3 83837905 missense probably benign 0.01
R7256:Tlr2 UTSW 3 83837606 missense possibly damaging 0.93
R7571:Tlr2 UTSW 3 83836542 missense probably damaging 1.00
Z1177:Tlr2 UTSW 3 83836607 missense probably damaging 1.00
Posted On2016-08-02