Incidental Mutation 'R2006:Tlr6'
ID 225535
Institutional Source Beutler Lab
Gene Symbol Tlr6
Ensembl Gene ENSMUSG00000051498
Gene Name toll-like receptor 6
Synonyms
MMRRC Submission 040015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2006 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 65109374-65117440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65110748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 720 (S720G)
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: S720G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: S720G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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. 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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,204,275 (GRCm39) F333L probably benign Het
Abcc2 T A 19: 43,793,500 (GRCm39) F384Y probably damaging Het
Acr C T 15: 89,458,404 (GRCm39) P362S probably benign Het
Acss3 T C 10: 106,798,871 (GRCm39) D484G possibly damaging Het
Actrt1 A G X: 45,418,593 (GRCm39) T203A probably benign Het
Agtpbp1 A T 13: 59,648,135 (GRCm39) C562S probably benign Het
Ahnak A G 19: 8,984,439 (GRCm39) K1908E probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Apaf1 A T 10: 90,897,634 (GRCm39) I283N probably damaging Het
Bbx G A 16: 50,044,758 (GRCm39) T493M possibly damaging Het
Best2 C T 8: 85,739,818 (GRCm39) probably null Het
C4bp C A 1: 130,575,769 (GRCm39) E75* probably null Het
Calr3 A T 8: 73,188,695 (GRCm39) V144D probably damaging Het
Capn1 C T 19: 6,041,613 (GRCm39) G632D probably damaging Het
Catsper2 C A 2: 121,236,838 (GRCm39) E270* probably null Het
Ccdc110 A T 8: 46,396,349 (GRCm39) I747F probably damaging Het
Ccdc15 T A 9: 37,226,768 (GRCm39) D389V possibly damaging Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Crb2 A T 2: 37,673,446 (GRCm39) D114V probably damaging Het
Crebbp TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 16: 3,902,617 (GRCm39) probably benign Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Dab1 T C 4: 104,462,522 (GRCm39) I32T probably damaging Het
Daw1 T C 1: 83,169,066 (GRCm39) V181A probably damaging Het
Dlg2 G A 7: 91,614,825 (GRCm39) E255K possibly damaging Het
Dnah10 T A 5: 124,906,651 (GRCm39) D4170E possibly damaging Het
Dnah12 A G 14: 26,536,416 (GRCm39) T2111A possibly damaging Het
Dock10 T C 1: 80,527,506 (GRCm39) Y1081C possibly damaging Het
Dscam T C 16: 96,621,112 (GRCm39) Y532C probably damaging Het
Fam83c T C 2: 155,672,223 (GRCm39) D404G probably benign Het
Fam83g A G 11: 61,593,801 (GRCm39) N445S possibly damaging Het
Ghr C T 15: 3,357,464 (GRCm39) C268Y probably damaging Het
Gm8444 T C 15: 81,727,775 (GRCm39) probably benign Het
Gp6 T A 7: 4,387,988 (GRCm39) K160N probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Gtf3c2 C A 5: 31,325,440 (GRCm39) G450C probably damaging Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Il31ra T G 13: 112,666,890 (GRCm39) Y396S probably damaging Het
Insig1 A G 5: 28,276,464 (GRCm39) N10S probably benign Het
Kcnh2 C A 5: 24,531,568 (GRCm39) G448C probably damaging Het
L1td1 C T 4: 98,621,726 (GRCm39) S96L possibly damaging Het
Mapre3 A T 5: 31,019,168 (GRCm39) N4I probably damaging Het
Mblac2 T A 13: 81,859,860 (GRCm39) D70E probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mpg A G 11: 32,181,840 (GRCm39) I283V probably benign Het
Mrtfb G T 16: 13,199,440 (GRCm39) E98* probably null Het
Mybpc1 C A 10: 88,381,921 (GRCm39) A576S probably damaging Het
Myo1h T G 5: 114,499,140 (GRCm39) V129G probably damaging Het
Nars1 A T 18: 64,638,099 (GRCm39) V285E probably damaging Het
Nbas T A 12: 13,464,742 (GRCm39) probably null Het
Neb T C 2: 52,089,456 (GRCm39) D5172G probably null Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nyap1 T C 5: 137,733,953 (GRCm39) H360R possibly damaging Het
Nyx A G X: 13,352,974 (GRCm39) E276G probably damaging Het
Or10ag59 T A 2: 87,405,536 (GRCm39) M36K probably benign Het
Or1e1 G T 11: 73,245,518 (GRCm39) C313F probably benign Het
Or2l13b A G 16: 19,349,455 (GRCm39) Y72H probably benign Het
Or2w6 T C 13: 21,842,642 (GRCm39) T284A possibly damaging Het
Or4c1 A G 2: 89,133,160 (GRCm39) Y259H possibly damaging Het
Or4c118 A T 2: 88,975,241 (GRCm39) V42E probably benign Het
Or5v1b C T 17: 37,841,597 (GRCm39) S243F probably damaging Het
Or7e174 A T 9: 20,012,165 (GRCm39) M37L probably benign Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or8g23 T A 9: 38,971,729 (GRCm39) T78S probably damaging Het
Paf1 C A 7: 28,095,193 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,280 (GRCm39) D1050G probably benign Het
Pgap1 A G 1: 54,590,220 (GRCm39) S73P possibly damaging Het
Phtf1 G A 3: 103,911,799 (GRCm39) probably null Het
Pik3c2b G T 1: 132,994,282 (GRCm39) R82L probably damaging Het
Pik3ca T C 3: 32,504,206 (GRCm39) L632P probably damaging Het
Plau G T 14: 20,888,760 (GRCm39) probably null Het
Pld4 A T 12: 112,734,923 (GRCm39) Q460L possibly damaging Het
Prdm2 T A 4: 142,858,447 (GRCm39) Q1614H possibly damaging Het
Ptprq C T 10: 107,502,407 (GRCm39) G837D probably damaging Het
Rad9b A G 5: 122,477,842 (GRCm39) V178A possibly damaging Het
Rfc1 G T 5: 65,468,397 (GRCm39) Y105* probably null Het
Sardh G A 2: 27,118,351 (GRCm39) R460C probably damaging Het
Scn5a C A 9: 119,365,546 (GRCm39) R367L probably damaging Het
Sdcbp A T 4: 6,386,536 (GRCm39) I137L probably benign Het
Shmt2 A G 10: 127,355,029 (GRCm39) V273A probably benign Het
Slc5a9 G T 4: 111,737,423 (GRCm39) P612H probably benign Het
Slitrk4 TTGT TT X: 63,314,294 (GRCm39) probably null Het
Slitrk4 TG T X: 63,314,295 (GRCm39) probably null Het
Spata1 A T 3: 146,199,438 (GRCm39) S9T probably benign Het
Syn3 T C 10: 85,909,097 (GRCm39) T328A probably benign Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Ticrr T C 7: 79,343,821 (GRCm39) S1229P possibly damaging Het
Tmem156 T A 5: 65,237,294 (GRCm39) D87V probably damaging Het
Togaram1 T A 12: 65,065,914 (GRCm39) D1639E probably damaging Het
Ucn2 A G 9: 108,815,430 (GRCm39) K64R probably benign Het
Vmn2r57 T A 7: 41,098,001 (GRCm39) Y22F probably benign Het
Vwa1 T C 4: 155,855,307 (GRCm39) T269A probably benign Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wdr20 T C 12: 110,760,002 (GRCm39) V296A probably damaging Het
Xxylt1 A T 16: 30,869,586 (GRCm39) H171Q probably damaging Het
Yju2 C T 17: 56,271,543 (GRCm39) Q155* probably null Het
Zfp275 A G X: 72,396,841 (GRCm39) T118A possibly 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
R2055:Tlr6 UTSW 5 65,111,269 (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'- AATGAAGCTCTAAGGTTGGCC -3'
(R):5'- ACAGTGAGCATGATTCTGCCTG -3'

Sequencing Primer
(F):5'- GCTCTAAGGTTGGCCCAAAACAG -3'
(R):5'- CATGATTCTGCCTGGGTGAAGAAC -3'
Posted On 2014-08-25