Incidental Mutation 'IGL01762:Tlr2'
ID 153284
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 # IGL01762
Quality Score
Status
Chromosome 3
Chromosomal Location 83743579-83749045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83744301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 594 (V594A)
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: V594A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: V594A

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,050,847 (GRCm39) L47* probably null Het
Abca13 A T 11: 9,265,423 (GRCm39) T3033S probably benign Het
Atp1a2 C A 1: 172,112,480 (GRCm39) V503L possibly damaging Het
Cacna1e T A 1: 154,347,119 (GRCm39) D770V possibly damaging Het
Camkk1 A G 11: 72,921,627 (GRCm39) probably null Het
Cd34 T A 1: 194,621,341 (GRCm39) M23K probably benign Het
Cndp1 T A 18: 84,640,411 (GRCm39) I265F probably damaging Het
Cux2 A G 5: 122,011,208 (GRCm39) I574T probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Galk1 A G 11: 115,900,834 (GRCm39) Y236H probably damaging Het
Gbp11 T C 5: 105,475,473 (GRCm39) I292V probably benign Het
Gprc5c A G 11: 114,754,850 (GRCm39) I176V probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Myh6 T C 14: 55,199,538 (GRCm39) K258E probably benign Het
Niban1 T C 1: 151,512,242 (GRCm39) V48A probably damaging Het
Nlrp9c T A 7: 26,084,850 (GRCm39) D243V probably damaging Het
Nobox T G 6: 43,280,927 (GRCm39) K516Q probably damaging Het
Nudcd3 A G 11: 6,100,560 (GRCm39) S195P probably damaging Het
Pde10a T C 17: 9,161,750 (GRCm39) I477T possibly damaging Het
Pgbd5 C T 8: 125,097,349 (GRCm39) A394T probably damaging Het
Piezo1 G A 8: 123,214,668 (GRCm39) R1553* probably null Het
Prkd1 T C 12: 50,434,013 (GRCm39) I577V probably benign Het
Prss34 T C 17: 25,518,786 (GRCm39) I256T probably benign Het
Ptprg A G 14: 12,037,386 (GRCm38) T189A probably benign Het
Ptprr C T 10: 116,072,638 (GRCm39) T200I probably damaging Het
Samd8 C T 14: 21,830,168 (GRCm39) P198L probably damaging Het
Sema3c T C 5: 17,899,849 (GRCm39) L447P possibly damaging Het
Slc22a23 A T 13: 34,387,984 (GRCm39) F371I possibly damaging Het
Slc2a2 A G 3: 28,771,621 (GRCm39) R184G probably damaging Het
Slitrk6 T A 14: 110,989,056 (GRCm39) D217V probably damaging Het
Vmn2r109 A G 17: 20,774,654 (GRCm39) F234L probably benign Het
Vmn2r12 A C 5: 109,234,430 (GRCm39) L594R probably damaging Het
Vmn2r124 A G 17: 18,283,434 (GRCm39) Q376R possibly damaging Het
Vmn2r7 T C 3: 64,598,856 (GRCm39) D567G probably benign Het
Other mutations in Tlr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-02-04