Incidental Mutation 'R8292:Tlr6'
ID 638730
Institutional Source Beutler Lab
Gene Symbol Tlr6
Ensembl Gene ENSMUSG00000051498
Gene Name toll-like receptor 6
Synonyms
MMRRC Submission 067782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R8292 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 65109374-65117440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65111134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 591 (L591R)
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: L591R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062096
Gene: ENSMUSG00000051498
AA Change: L591R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,338,555 (GRCm39) probably null Het
Akirin2 T C 4: 34,566,007 (GRCm39) probably null Het
Akr1c14 A G 13: 4,130,995 (GRCm39) D229G possibly damaging Het
Arfgef1 T C 1: 10,227,194 (GRCm39) I1382V probably benign Het
Bcas3 C A 11: 85,348,729 (GRCm39) A207D probably damaging Het
Bcl2l10 T C 9: 75,255,160 (GRCm39) probably benign Het
Cdc42 T C 4: 137,063,384 (GRCm39) T3A probably benign Het
Celsr1 C A 15: 85,791,819 (GRCm39) W2594L possibly damaging Het
Chrna6 A T 8: 27,896,754 (GRCm39) H374Q probably benign Het
Cibar1 T G 4: 12,153,963 (GRCm39) T330P possibly damaging Het
Clcnka G A 4: 141,125,272 (GRCm39) R30* probably null Het
Clptm1l A T 13: 73,765,854 (GRCm39) H464L probably damaging Het
Col6a4 A T 9: 105,954,076 (GRCm39) M421K probably benign Het
Crybg2 T C 4: 133,802,842 (GRCm39) S873P probably damaging Het
Dixdc1 A G 9: 50,621,989 (GRCm39) V114A probably benign Het
Etv6 T C 6: 134,225,509 (GRCm39) C247R probably benign Het
Farp2 T C 1: 93,456,350 (GRCm39) L11S probably damaging Het
Gbp2 G A 3: 142,329,584 (GRCm39) V44M probably damaging Het
Get4 A G 5: 139,248,686 (GRCm39) D99G probably null Het
Glcci1 G A 6: 8,558,549 (GRCm39) R212H probably damaging Het
Gm14295 T A 2: 176,501,351 (GRCm39) F280L probably damaging Het
Gm5407 T A 16: 49,117,550 (GRCm39) N70Y noncoding transcript Het
Hace1 C G 10: 45,587,557 (GRCm39) Y885* probably null Het
Hectd4 G A 5: 121,455,288 (GRCm39) R644Q possibly damaging Het
Impg2 A T 16: 56,080,989 (GRCm39) E931V probably damaging Het
Kif5c A T 2: 49,625,497 (GRCm39) Y589F probably benign Het
Krr1 T A 10: 111,813,021 (GRCm39) V132E possibly damaging Het
Luzp1 T G 4: 136,269,764 (GRCm39) D662E probably benign Het
Mc4r A T 18: 66,993,082 (GRCm39) Y10* probably null Het
Mfng T C 15: 78,657,370 (GRCm39) I35V probably benign Het
Mprip T A 11: 59,650,340 (GRCm39) I1348K probably benign Het
Mrgprb3 G T 7: 48,293,255 (GRCm39) Q99K probably benign Het
Mrgprb4 A T 7: 47,848,554 (GRCm39) S125T probably damaging Het
Mrgprg A T 7: 143,318,656 (GRCm39) M152K probably benign Het
Muc5ac A C 7: 141,363,000 (GRCm39) I2104L unknown Het
Myom2 A G 8: 15,182,888 (GRCm39) I1442V probably benign Het
Nell1 T C 7: 49,907,995 (GRCm39) C385R probably damaging Het
Nid2 T G 14: 19,818,346 (GRCm39) V280G probably damaging Het
Npr2 T A 4: 43,643,086 (GRCm39) M490K possibly damaging Het
Prr12 A G 7: 44,684,112 (GRCm39) F1643L probably damaging Het
Psg16 G A 7: 16,827,701 (GRCm39) G128D probably damaging Het
Racgap1 A T 15: 99,520,127 (GRCm39) L595* probably null Het
Rbbp8 T C 18: 11,838,769 (GRCm39) V150A probably benign Het
Rbbp9 T C 2: 144,390,017 (GRCm39) T49A probably benign Het
Rbm20 C A 19: 53,839,930 (GRCm39) T973K possibly damaging Het
Robo1 A T 16: 72,769,420 (GRCm39) I582F possibly damaging Het
Rps6ka5 A T 12: 100,644,791 (GRCm39) V53D possibly damaging Het
Slc35f6 G T 5: 30,813,375 (GRCm39) V156L probably benign Het
Smpd3 T C 8: 106,991,422 (GRCm39) H377R probably benign Het
Son G A 16: 91,453,545 (GRCm39) S764N possibly damaging Het
Srgn A T 10: 62,343,447 (GRCm39) V16D possibly damaging Het
Tex14 G A 11: 87,388,664 (GRCm39) R297Q probably damaging Het
Tiam2 T C 17: 3,557,142 (GRCm39) V1194A probably benign Het
Tmem143 A G 7: 45,558,964 (GRCm39) K302R probably damaging Het
Ttc28 A G 5: 111,371,123 (GRCm39) Y555C probably damaging Het
Usp32 T A 11: 84,968,227 (GRCm39) K145N probably damaging Het
Zbtb40 T C 4: 136,726,878 (GRCm39) Y486C 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
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
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'- TTCCTCTAAGGGGATGTGCC -3'
(R):5'- ATCGACCATAACTCAGTTTCCC -3'

Sequencing Primer
(F):5'- TAAGGGGATGTGCCTGGCC -3'
(R):5'- CCAGAGCTGTCAGAATATTAGATCC -3'
Posted On 2020-07-28