Incidental Mutation 'R2055:Tlr6'
ID 226579
Institutional Source Beutler Lab
Gene Symbol Tlr6
Ensembl Gene ENSMUSG00000051498
Gene Name toll-like receptor 6
Synonyms
MMRRC Submission 040060-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2055 (G1)
Quality Score 125
Status Validated
Chromosome 5
Chromosomal Location 65109374-65117440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65111269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 546 (C546F)
Ref Sequence ENSEMBL: ENSMUSP00000062096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062315] [ENSMUST00000201307]
AlphaFold Q9EPW9
Predicted Effect probably damaging
Transcript: ENSMUST00000062315
AA Change: C546F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: C546F

DomainStartEndE-ValueType
LRR_TYP 86 109 7.67e-2 SMART
LRR 131 155 2.76e1 SMART
LRR 461 482 6.23e1 SMART
LRR 483 507 4.57e0 SMART
LRRCT 540 594 4.06e-11 SMART
transmembrane domain 596 618 N/A INTRINSIC
TIR 652 795 5.37e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201307
SMART Domains Protein: ENSMUSP00000143865
Gene: ENSMUSG00000051498

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
LRR_TYP 86 109 3.3e-4 SMART
Meta Mutation Damage Score 0.7062 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (74/74)
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. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
PHENOTYPE: Inactivation of this gene results in abnormal macrophage function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,107 (GRCm39) E185G probably damaging Het
3425401B19Rik A G 14: 32,384,508 (GRCm39) S486P probably benign Het
A630023A22Rik T C 14: 33,774,707 (GRCm39) probably benign Het
Abca1 T C 4: 53,069,881 (GRCm39) N1271S probably benign Het
AI597479 C T 1: 43,150,280 (GRCm39) A130V probably benign Het
Angptl4 A G 17: 33,999,498 (GRCm39) probably null Het
Arhgef25 T A 10: 127,021,004 (GRCm39) N294I probably damaging Het
Atp2b1 T C 10: 98,850,421 (GRCm39) V848A probably damaging Het
Bard1 T C 1: 71,114,031 (GRCm39) T317A probably benign Het
C1rl T C 6: 124,470,781 (GRCm39) W30R probably benign Het
Cchcr1 A G 17: 35,837,317 (GRCm39) E379G probably damaging Het
Cfap36 G T 11: 29,197,122 (GRCm39) A3E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca4a A G 3: 144,676,489 (GRCm39) Y64H probably damaging Het
Cops5 A G 1: 10,102,562 (GRCm39) probably null Het
Cracr2a G T 6: 127,585,564 (GRCm39) E121* probably null Het
Cstf1 A G 2: 172,222,403 (GRCm39) E387G probably benign Het
D630044L22Rik A C 17: 26,180,951 (GRCm39) D733E probably damaging Het
Dlc1 A T 8: 37,060,535 (GRCm39) C514S probably damaging Het
Dmwd G T 7: 18,810,610 (GRCm39) R139L probably benign Het
Dnah17 A T 11: 117,958,357 (GRCm39) S2709T probably benign Het
Dnmt3a T C 12: 3,922,859 (GRCm39) I154T probably benign Het
Dpp7 T C 2: 25,244,490 (GRCm39) N297S possibly damaging Het
Ern2 A T 7: 121,783,168 (GRCm39) V34D possibly damaging Het
Erp27 A G 6: 136,885,227 (GRCm39) probably benign Het
F2 T C 2: 91,458,787 (GRCm39) T508A probably benign Het
Fam181b A G 7: 92,729,634 (GRCm39) T136A probably benign Het
Fam227b C A 2: 125,942,874 (GRCm39) V308L probably benign Het
Fbxw20 A T 9: 109,050,442 (GRCm39) H394Q probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Glt8d1 T G 14: 30,731,693 (GRCm39) S111A probably benign Het
Gm11146 A T 16: 77,391,969 (GRCm39) probably benign Het
Grip1 C T 10: 119,885,416 (GRCm39) probably benign Het
H2-Q2 A T 17: 35,564,247 (GRCm39) T334S probably benign Het
Hcrtr1 A G 4: 130,024,680 (GRCm39) V402A probably benign Het
Hmcn2 C A 2: 31,268,294 (GRCm39) A1130D probably benign Het
Hsd17b2 T C 8: 118,428,913 (GRCm39) L60P possibly damaging Het
Htr1f A T 16: 64,746,398 (GRCm39) I298N probably damaging Het
Ighmbp2 G T 19: 3,315,095 (GRCm39) A775D probably benign Het
Kcnn3 A G 3: 89,428,682 (GRCm39) T303A probably damaging Het
Kiz C A 2: 146,733,203 (GRCm39) Q460K probably benign Het
Krt75 C T 15: 101,481,196 (GRCm39) V193I probably benign Het
Lsp1 G A 7: 142,043,144 (GRCm39) probably null Het
Mfsd12 A G 10: 81,196,063 (GRCm39) H146R probably damaging Het
Mmp23 T C 4: 155,736,444 (GRCm39) K199R possibly damaging Het
Naip2 A G 13: 100,315,880 (GRCm39) V300A probably benign Het
Nbeal1 C T 1: 60,350,216 (GRCm39) L2422F probably damaging Het
Nbeal2 G T 9: 110,464,375 (GRCm39) D1094E possibly damaging Het
Nckap5 T C 1: 125,954,635 (GRCm39) E639G probably damaging Het
Nr4a3 A G 4: 48,067,771 (GRCm39) I456V possibly damaging Het
Or2t43 A G 11: 58,457,673 (GRCm39) F166S probably damaging Het
Parp9 G T 16: 35,773,984 (GRCm39) V86L probably damaging Het
Phactr1 A G 13: 43,231,416 (GRCm39) N386S probably damaging Het
Pold2 A T 11: 5,823,516 (GRCm39) Y304* probably null Het
Pou5f2 A G 13: 78,173,940 (GRCm39) Y294C probably benign Het
Rars1 A G 11: 35,717,410 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,606 (GRCm39) E526G probably benign Het
Sacs T C 14: 61,451,498 (GRCm39) Y4515H probably damaging Het
Sdk2 C A 11: 113,741,780 (GRCm39) R813L probably damaging Het
Six5 T C 7: 18,829,154 (GRCm39) V198A possibly damaging Het
Slco1a7 A T 6: 141,671,181 (GRCm39) H430Q probably benign Het
Spata31e2 A T 1: 26,724,813 (GRCm39) N122K possibly damaging Het
Spn A G 7: 126,736,388 (GRCm39) S40P probably damaging Het
Ssr1 A G 13: 38,171,761 (GRCm39) probably benign Het
Top1 T A 2: 160,544,748 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,532 (GRCm39) S151P probably damaging Het
Tubb2b T G 13: 34,311,708 (GRCm39) K362Q probably benign Het
Unc13c T C 9: 73,643,832 (GRCm39) T1211A probably damaging Het
Vmn1r15 T C 6: 57,235,729 (GRCm39) V199A possibly damaging Het
Vnn1 A G 10: 23,776,475 (GRCm39) probably benign Het
Vps41 T A 13: 19,038,786 (GRCm39) N737K possibly damaging Het
Vps50 T A 6: 3,522,265 (GRCm39) N144K probably benign Het
Zc3h7a A T 16: 10,955,340 (GRCm39) N911K probably benign Het
Zkscan7 T A 9: 122,718,002 (GRCm39) S132R probably damaging Het
Other mutations in Tlr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Tlr6 APN 5 65,110,855 (GRCm39) missense probably damaging 1.00
IGL00963:Tlr6 APN 5 65,112,019 (GRCm39) missense possibly damaging 0.89
IGL01540:Tlr6 APN 5 65,112,629 (GRCm39) missense probably damaging 0.97
IGL01675:Tlr6 APN 5 65,111,842 (GRCm39) missense probably damaging 1.00
IGL01705:Tlr6 APN 5 65,111,473 (GRCm39) missense probably benign 0.03
IGL02256:Tlr6 APN 5 65,112,287 (GRCm39) missense probably benign 0.00
Counterintuitive UTSW 5 65,110,938 (GRCm39) missense probably damaging 1.00
insouciant UTSW 5 65,111,926 (GRCm39) missense possibly damaging 0.81
m2sd1 UTSW 5 65,111,537 (GRCm39) nonsense
m2sd2 UTSW 5 65,111,737 (GRCm39) nonsense
m2sd3 UTSW 5 65,111,584 (GRCm39) missense probably damaging 0.98
One_off UTSW 5 65,110,594 (GRCm39) missense probably damaging 1.00
R0336:Tlr6 UTSW 5 65,111,289 (GRCm39) missense probably benign 0.02
R0388:Tlr6 UTSW 5 65,112,548 (GRCm39) missense possibly damaging 0.74
R0558:Tlr6 UTSW 5 65,112,203 (GRCm39) nonsense probably null
R0671:Tlr6 UTSW 5 65,111,935 (GRCm39) missense probably benign 0.00
R1171:Tlr6 UTSW 5 65,112,593 (GRCm39) missense probably benign 0.00
R1550:Tlr6 UTSW 5 65,110,754 (GRCm39) missense probably damaging 0.98
R1809:Tlr6 UTSW 5 65,111,055 (GRCm39) nonsense probably null
R1868:Tlr6 UTSW 5 65,112,172 (GRCm39) missense probably benign 0.00
R1876:Tlr6 UTSW 5 65,112,763 (GRCm39) missense probably damaging 1.00
R1893:Tlr6 UTSW 5 65,110,556 (GRCm39) missense probably damaging 1.00
R2006:Tlr6 UTSW 5 65,110,748 (GRCm39) missense probably damaging 1.00
R3087:Tlr6 UTSW 5 65,111,668 (GRCm39) missense probably damaging 1.00
R3406:Tlr6 UTSW 5 65,110,772 (GRCm39) missense probably damaging 1.00
R3711:Tlr6 UTSW 5 65,111,152 (GRCm39) missense possibly damaging 0.75
R3938:Tlr6 UTSW 5 65,110,938 (GRCm39) missense probably damaging 1.00
R3962:Tlr6 UTSW 5 65,112,328 (GRCm39) missense probably benign 0.10
R4152:Tlr6 UTSW 5 65,110,555 (GRCm39) missense probably damaging 1.00
R4274:Tlr6 UTSW 5 65,110,981 (GRCm39) missense probably benign 0.01
R4516:Tlr6 UTSW 5 65,112,247 (GRCm39) missense possibly damaging 0.67
R4518:Tlr6 UTSW 5 65,112,247 (GRCm39) missense possibly damaging 0.67
R4762:Tlr6 UTSW 5 65,111,739 (GRCm39) missense probably benign 0.09
R4959:Tlr6 UTSW 5 65,111,002 (GRCm39) missense possibly damaging 0.81
R5119:Tlr6 UTSW 5 65,111,644 (GRCm39) missense probably benign 0.06
R5248:Tlr6 UTSW 5 65,112,647 (GRCm39) missense probably benign 0.30
R5507:Tlr6 UTSW 5 65,110,749 (GRCm39) missense probably damaging 1.00
R5572:Tlr6 UTSW 5 65,112,361 (GRCm39) missense probably damaging 1.00
R5773:Tlr6 UTSW 5 65,111,846 (GRCm39) missense probably benign 0.00
R6711:Tlr6 UTSW 5 65,111,835 (GRCm39) missense probably damaging 1.00
R7096:Tlr6 UTSW 5 65,111,119 (GRCm39) missense probably benign
R7341:Tlr6 UTSW 5 65,110,972 (GRCm39) missense probably benign 0.32
R7594:Tlr6 UTSW 5 65,110,594 (GRCm39) missense probably damaging 1.00
R7754:Tlr6 UTSW 5 65,111,693 (GRCm39) missense possibly damaging 0.64
R7774:Tlr6 UTSW 5 65,110,728 (GRCm39) missense probably damaging 0.99
R8292:Tlr6 UTSW 5 65,111,134 (GRCm39) missense probably damaging 1.00
R8348:Tlr6 UTSW 5 65,111,185 (GRCm39) missense probably damaging 1.00
R8376:Tlr6 UTSW 5 65,112,455 (GRCm39) missense probably benign 0.00
R8448:Tlr6 UTSW 5 65,111,185 (GRCm39) missense probably damaging 1.00
R9620:Tlr6 UTSW 5 65,112,146 (GRCm39) missense possibly damaging 0.68
R9654:Tlr6 UTSW 5 65,112,697 (GRCm39) missense probably damaging 1.00
Z1177:Tlr6 UTSW 5 65,112,582 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CATACCAGGGCAGGTCAAAG -3'
(R):5'- TGCAGGAACTCAATGTAGCATCC -3'

Sequencing Primer
(F):5'- AGCCAGCACCAGCATAGTGG -3'
(R):5'- ATGTAGCATCCAACTCCTTAACTG -3'
Posted On 2014-09-17