Incidental Mutation 'R5859:Tlr2'
ID 455043
Institutional Source Beutler Lab
Gene Symbol Tlr2
Ensembl Gene ENSMUSG00000027995
Gene Name toll-like receptor 2
Synonyms Ly105
MMRRC Submission 044071-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5859 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 83743579-83749045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83743810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 758 (T758P)
Ref Sequence ENSEMBL: ENSMUSP00000029623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029623]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029623
AA Change: T758P

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: T758P

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
Meta Mutation Damage Score 0.2263 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 93% (70/75)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,303,477 (GRCm39) V150E probably benign Het
Alg11 A G 8: 22,555,857 (GRCm39) K373E probably benign Het
Arl14ep C T 2: 106,799,398 (GRCm39) probably benign Het
Ascc2 G A 11: 4,608,284 (GRCm39) G227R probably benign Het
Ash1l C T 3: 88,976,300 (GRCm39) P2627S probably damaging Het
Btla T G 16: 45,059,402 (GRCm39) probably null Het
Btnl10 C T 11: 58,813,138 (GRCm39) P256S probably benign Het
Cep162 C T 9: 87,086,145 (GRCm39) A1060T probably damaging Het
Cfap54 T A 10: 92,852,386 (GRCm39) K907* probably null Het
Chpf A T 1: 75,452,072 (GRCm39) F461I probably damaging Het
Chrdl2 A G 7: 99,670,114 (GRCm39) Y79C probably damaging Het
Copb2 G A 9: 98,450,161 (GRCm39) C40Y probably benign Het
Cyfip1 T C 7: 55,574,929 (GRCm39) L1060P probably damaging Het
Drg1 G A 11: 3,209,273 (GRCm39) probably benign Het
Erich3 A G 3: 154,468,134 (GRCm39) D862G possibly damaging Het
Flii G T 11: 60,607,137 (GRCm39) Y946* probably null Het
Glt8d2 T C 10: 82,507,915 (GRCm39) M1V probably null Het
Gm21136 T A 7: 38,567,165 (GRCm39) noncoding transcript Het
Gramd1c T C 16: 43,812,454 (GRCm39) T393A possibly damaging Het
Gucy2d T A 7: 98,101,090 (GRCm39) I471N probably benign Het
Hps3 G A 3: 20,063,034 (GRCm39) T711M probably benign Het
Hs3st4 A T 7: 123,582,831 (GRCm39) D143V probably benign Het
Kif17 T A 4: 138,018,744 (GRCm39) M461K possibly damaging Het
Klhdc7a T A 4: 139,694,885 (GRCm39) S21C probably damaging Het
Klk15 G A 7: 43,587,800 (GRCm39) R76H probably benign Het
Lnpk G A 2: 74,399,372 (GRCm39) T57I possibly damaging Het
Ltbp2 A G 12: 84,840,837 (GRCm39) V999A possibly damaging Het
Ltbr T C 6: 125,289,771 (GRCm39) H141R probably damaging Het
Lvrn T C 18: 47,026,816 (GRCm39) F805L probably damaging Het
Ms4a13 A T 19: 11,161,280 (GRCm39) C86* probably null Het
Ncbp1 A G 4: 46,163,026 (GRCm39) N480S probably benign Het
Nelfcd T G 2: 174,268,856 (GRCm39) *592G probably null Het
Neurog2 T C 3: 127,427,664 (GRCm39) V96A probably benign Het
Nod1 A T 6: 54,907,162 (GRCm39) W902R probably benign Het
Or12d13 T C 17: 37,647,260 (GRCm39) I288V possibly damaging Het
Or4k15c T A 14: 50,321,484 (GRCm39) Y218F probably damaging Het
Or55b3 T C 7: 102,126,957 (GRCm39) Y40C possibly damaging Het
Or6d13 T C 6: 116,517,861 (GRCm39) L149P probably damaging Het
Pcdha11 A T 18: 37,140,336 (GRCm39) H655L probably damaging Het
Plpp7 A G 2: 31,985,996 (GRCm39) E58G probably benign Het
Psph A T 5: 129,867,685 (GRCm39) probably benign Het
Rab11fip1 A C 8: 27,644,748 (GRCm39) S346A probably damaging Het
Rreb1 C A 13: 38,131,384 (GRCm39) P1513T probably benign Het
Rreb1 C T 13: 38,131,385 (GRCm39) P1513L probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Scap A G 9: 110,203,115 (GRCm39) N263S probably benign Het
Sec24d A T 3: 123,072,961 (GRCm39) probably benign Het
Slain2 T C 5: 73,105,888 (GRCm39) probably benign Het
Slc6a18 G T 13: 73,816,278 (GRCm39) T367N probably benign Het
Slk T A 19: 47,597,481 (GRCm39) D96E probably benign Het
Spag5 G A 11: 78,204,360 (GRCm39) V514I probably benign Het
St8sia2 T C 7: 73,616,654 (GRCm39) D107G probably damaging Het
Tgfbr3 T A 5: 107,288,381 (GRCm39) I427F probably benign Het
Tmem270 A G 5: 134,931,738 (GRCm39) V68A probably benign Het
Vmn2r106 T A 17: 20,505,583 (GRCm39) H37L possibly damaging Het
Vmn2r27 T G 6: 124,177,647 (GRCm39) R452S probably damaging Het
Wdr5 A G 2: 27,423,362 (GRCm39) Y252C probably damaging Het
Zswim9 C T 7: 12,995,371 (GRCm39) V262M 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
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
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
Predicted Primers PCR Primer
(F):5'- AAACCGGTCTCCTGATGTCAC -3'
(R):5'- GTGCTTTCTGAGAACTTCGTAC -3'

Sequencing Primer
(F):5'- ACAGTATTCAAGACAAAACCCATAG -3'
(R):5'- TCTGAGAACTTCGTACGGAGC -3'
Posted On 2017-02-10