Incidental Mutation 'R6056:Tlr5'
ID 484355
Institutional Source Beutler Lab
Gene Symbol Tlr5
Ensembl Gene ENSMUSG00000079164
Gene Name toll-like receptor 5
Synonyms
MMRRC Submission 044223-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R6056 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182954788-182976044 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 182974038 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 302 (R302S)
Ref Sequence ENSEMBL: ENSMUSP00000141318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110997] [ENSMUST00000191820] [ENSMUST00000193687]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110997
AA Change: R302S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: R302S

DomainStartEndE-ValueType
low complexity region 83 92 N/A INTRINSIC
LRR_TYP 109 132 3.11e-2 SMART
LRR 159 183 5.56e0 SMART
LRR 184 207 1.97e2 SMART
low complexity region 262 275 N/A INTRINSIC
LRR 326 349 7.05e-1 SMART
LRR 350 373 2.92e1 SMART
LRR 374 397 2.54e1 SMART
LRR 398 418 1.29e2 SMART
low complexity region 441 456 N/A INTRINSIC
LRR_TYP 516 539 1.06e-4 SMART
LRR 540 563 6.13e-1 SMART
LRR 564 585 2.21e2 SMART
LRRCT 594 645 7.01e-6 SMART
low complexity region 657 676 N/A INTRINSIC
TIR 707 852 3.89e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191820
AA Change: R288S

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: R288S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
LRR_TYP 95 118 1.3e-4 SMART
LRR 145 169 2.3e-2 SMART
LRR 170 193 8.2e-1 SMART
low complexity region 248 261 N/A INTRINSIC
LRR 312 335 2.9e-3 SMART
LRR 336 359 1.2e-1 SMART
LRR 360 383 1.1e-1 SMART
LRR 384 404 5.4e-1 SMART
low complexity region 427 442 N/A INTRINSIC
LRR_TYP 502 525 4.5e-7 SMART
LRR 526 549 2.5e-3 SMART
LRR 550 571 9.4e-1 SMART
LRRCT 580 631 3.4e-8 SMART
transmembrane domain 642 664 N/A INTRINSIC
TIR 693 838 2.5e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193539
Predicted Effect possibly damaging
Transcript: ENSMUST00000193687
AA Change: R302S

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: R302S

DomainStartEndE-ValueType
low complexity region 83 92 N/A INTRINSIC
LRR_TYP 109 132 1.3e-4 SMART
LRR 159 183 2.3e-2 SMART
LRR 184 207 8.2e-1 SMART
low complexity region 262 275 N/A INTRINSIC
LRR 326 349 2.9e-3 SMART
LRR 350 373 1.2e-1 SMART
LRR 374 397 1.1e-1 SMART
LRR 398 418 5.4e-1 SMART
low complexity region 441 456 N/A INTRINSIC
LRR_TYP 516 539 4.5e-7 SMART
LRR 540 563 2.5e-3 SMART
LRR 564 585 9.4e-1 SMART
LRRCT 594 645 3.4e-8 SMART
transmembrane domain 656 678 N/A INTRINSIC
TIR 707 852 2.5e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195614
Meta Mutation Damage Score 0.1076 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 96% (99/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for disruption of this gene have a generally normal phenotype. However they fail to respond immunologically to purified flagellin and are resistant to infection with Salmonella typhimurium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,942,878 (GRCm38) W162R probably benign Het
2610507B11Rik C A 11: 78,271,384 (GRCm38) L691I possibly damaging Het
4930438A08Rik C A 11: 58,293,638 (GRCm38) P394H probably damaging Het
Aggf1 C T 13: 95,371,615 (GRCm38) C81Y probably benign Het
Agxt2 A T 15: 10,378,877 (GRCm38) D188V probably damaging Het
Angpt2 T C 8: 18,698,116 (GRCm38) K376R probably benign Het
Anxa5 A G 3: 36,450,691 (GRCm38) S241P probably damaging Het
Aox3 A T 1: 58,169,859 (GRCm38) K850N probably damaging Het
Arid5a T C 1: 36,319,392 (GRCm38) M415T probably benign Het
Aspa T A 11: 73,308,752 (GRCm38) N233I probably damaging Het
Atp4b C T 8: 13,388,782 (GRCm38) R198Q probably damaging Het
Atp8b2 A T 3: 89,946,221 (GRCm38) V719E possibly damaging Het
Cacna1s T G 1: 136,105,836 (GRCm38) V1017G probably damaging Het
Chrna4 G T 2: 181,029,442 (GRCm38) Q174K probably damaging Het
Chrnb1 A T 11: 69,786,939 (GRCm38) V329D probably damaging Het
Chst14 T C 2: 118,927,733 (GRCm38) L336P probably damaging Het
Clec2e T C 6: 129,100,809 (GRCm38) D22G probably benign Het
Csrnp2 A C 15: 100,482,382 (GRCm38) S343A probably benign Het
Dapl1 C A 2: 59,484,713 (GRCm38) A2E probably damaging Het
Dlec1 G T 9: 119,121,923 (GRCm38) R519L probably damaging Het
Dmgdh T C 13: 93,752,326 (GRCm38) V824A probably damaging Het
Dmgdh T A 13: 93,708,743 (GRCm38) F415I possibly damaging Het
Dnah11 T G 12: 117,928,456 (GRCm38) T3661P probably benign Het
Dnah3 A G 7: 120,030,031 (GRCm38) F1434L probably damaging Het
Dnajc11 C A 4: 151,978,126 (GRCm38) probably benign Het
Dot1l A G 10: 80,786,095 (GRCm38) E527G probably damaging Het
Drc7 T C 8: 95,075,051 (GRCm38) L680P probably damaging Het
Dysf T C 6: 84,106,862 (GRCm38) Y742H probably benign Het
Ece1 A G 4: 137,961,647 (GRCm38) Y665C probably damaging Het
Emc1 A G 4: 139,354,222 (GRCm38) K54E possibly damaging Het
Enoph1 C T 5: 100,067,901 (GRCm38) T247M probably damaging Het
Exoc2 T C 13: 30,900,829 (GRCm38) K383R probably benign Het
Fam227b A T 2: 126,121,052 (GRCm38) H181Q probably damaging Het
Fsip2 A T 2: 82,985,673 (GRCm38) M3917L probably benign Het
Gtf3a T A 5: 146,955,528 (GRCm38) probably benign Het
Hgfac T A 5: 35,041,629 (GRCm38) C11* probably null Het
Hmcn1 C A 1: 150,663,909 (GRCm38) A2944S probably damaging Het
Hps5 T A 7: 46,767,097 (GRCm38) Y947F probably benign Het
Ighv2-5 A T 12: 113,685,500 (GRCm38) I111K probably benign Het
Inpp5e A T 2: 26,407,848 (GRCm38) L247* probably null Het
Kbtbd11 T C 8: 15,027,577 (GRCm38) S59P probably benign Het
Kctd19 G A 8: 105,396,450 (GRCm38) H111Y probably damaging Het
Kif1a T C 1: 93,024,648 (GRCm38) D1303G probably damaging Het
Kif7 A G 7: 79,714,094 (GRCm38) V22A possibly damaging Het
Lrit3 A T 3: 129,789,355 (GRCm38) C328S probably damaging Het
Lrrc37a G T 11: 103,497,658 (GRCm38) Q2314K unknown Het
Lurap1 G T 4: 116,137,402 (GRCm38) P211T possibly damaging Het
Mbd2 T A 18: 70,580,803 (GRCm38) N5K possibly damaging Het
Mbtps1 A C 8: 119,515,602 (GRCm38) L894V probably benign Het
Mefv G A 16: 3,708,042 (GRCm38) S787F possibly damaging Het
Miip T A 4: 147,862,335 (GRCm38) I289F probably damaging Het
Mogat2 T A 7: 99,223,513 (GRCm38) I155F possibly damaging Het
Mpp3 C A 11: 102,011,689 (GRCm38) probably null Het
Mrrf A G 2: 36,177,221 (GRCm38) K220E probably damaging Het
Mtmr6 C T 14: 60,298,170 (GRCm38) P485L probably damaging Het
Mtor G A 4: 148,537,435 (GRCm38) R1896K probably benign Het
Myh3 C T 11: 67,087,545 (GRCm38) P453S probably benign Het
Nebl A G 2: 17,450,234 (GRCm38) V112A probably benign Het
Nmnat2 G A 1: 153,074,734 (GRCm38) W55* probably null Het
Nprl3 A G 11: 32,267,432 (GRCm38) S37P probably damaging Het
Olfr1246 T C 2: 89,591,101 (GRCm38) N5D possibly damaging Het
Oraov1 G T 7: 144,915,286 (GRCm38) V17L possibly damaging Het
Pcdhga4 T G 18: 37,686,330 (GRCm38) S311A probably benign Het
Pcdhgb6 T C 18: 37,743,112 (GRCm38) V291A probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm38) probably benign Het
Peg3 T C 7: 6,709,571 (GRCm38) E884G probably damaging Het
Pgpep1 G A 8: 70,652,451 (GRCm38) T53M probably damaging Het
Phf12 A G 11: 78,009,515 (GRCm38) T146A probably benign Het
Polr3k C G 2: 181,864,488 (GRCm38) N10K probably damaging Het
Prickle4 C A 17: 47,690,210 (GRCm38) G144C probably damaging Het
Ptpn6 T C 6: 124,732,435 (GRCm38) Y25C probably damaging Het
Rad1 A G 15: 10,488,074 (GRCm38) I95V probably damaging Het
Rad23b A G 4: 55,382,540 (GRCm38) T248A probably benign Het
Rapgef3 T C 15: 97,758,861 (GRCm38) D299G probably damaging Het
Rcc2 T G 4: 140,717,024 (GRCm38) V342G possibly damaging Het
Rgs3 G T 4: 62,625,906 (GRCm38) R136L probably damaging Het
Scube2 A T 7: 109,833,013 (GRCm38) C399* probably null Het
Serpinb3d T C 1: 107,079,722 (GRCm38) Y178C probably damaging Het
Slc1a7 A G 4: 108,012,261 (GRCm38) T508A probably benign Het
Slc29a4 C T 5: 142,720,077 (GRCm38) R439C probably damaging Het
Sntg2 A G 12: 30,312,561 (GRCm38) I62T probably benign Het
Sowaha G A 11: 53,479,087 (GRCm38) P274L probably damaging Het
Sptan1 A G 2: 29,996,782 (GRCm38) N869S probably benign Het
Stx18 C A 5: 38,106,564 (GRCm38) A64D probably damaging Het
Stxbp5 A G 10: 9,770,686 (GRCm38) V94A probably benign Het
Sult1a1 T A 7: 126,676,452 (GRCm38) probably null Het
Susd1 G T 4: 59,379,687 (GRCm38) H313Q possibly damaging Het
Tdrd9 A T 12: 111,985,041 (GRCm38) K88N probably damaging Het
Tnr C T 1: 159,886,909 (GRCm38) T786I probably damaging Het
Tprgl A G 4: 154,160,095 (GRCm38) S148P probably damaging Het
Trpc4ap T A 2: 155,671,074 (GRCm38) N127I probably damaging Het
Tulp2 T A 7: 45,490,373 (GRCm38) probably null Het
Uggt2 C T 14: 119,035,969 (GRCm38) probably null Het
Ulk4 T A 9: 121,272,955 (GRCm38) Y19F probably damaging Het
Upf1 T C 8: 70,333,037 (GRCm38) Y1053C probably damaging Het
Vars2 A T 17: 35,665,788 (GRCm38) H223Q probably benign Het
Vmn2r106 T A 17: 20,267,544 (GRCm38) probably null Het
Ythdc2 T A 18: 44,840,210 (GRCm38) F305I probably damaging Het
Zfp281 T C 1: 136,625,440 (GRCm38) F52S possibly damaging Het
Zfp292 A T 4: 34,809,784 (GRCm38) C1087S probably damaging Het
Zfp335 A T 2: 164,895,098 (GRCm38) probably null Het
Other mutations in Tlr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Tlr5 APN 1 182,973,829 (GRCm38) missense probably benign
IGL00940:Tlr5 APN 1 182,974,196 (GRCm38) missense possibly damaging 0.84
IGL01302:Tlr5 APN 1 182,974,748 (GRCm38) missense probably benign 0.00
IGL01480:Tlr5 APN 1 182,973,499 (GRCm38) missense probably benign 0.09
IGL01717:Tlr5 APN 1 182,975,398 (GRCm38) missense probably damaging 1.00
IGL01896:Tlr5 APN 1 182,974,879 (GRCm38) missense possibly damaging 0.64
IGL02083:Tlr5 APN 1 182,973,884 (GRCm38) missense possibly damaging 0.91
IGL02135:Tlr5 APN 1 182,973,254 (GRCm38) missense possibly damaging 0.82
R0464:Tlr5 UTSW 1 182,973,710 (GRCm38) missense probably benign 0.01
R0552:Tlr5 UTSW 1 182,975,696 (GRCm38) splice site probably null
R0556:Tlr5 UTSW 1 182,974,151 (GRCm38) missense probably damaging 1.00
R0639:Tlr5 UTSW 1 182,973,889 (GRCm38) missense probably damaging 1.00
R0670:Tlr5 UTSW 1 182,973,889 (GRCm38) missense probably damaging 1.00
R1014:Tlr5 UTSW 1 182,975,677 (GRCm38) missense probably benign 0.00
R1125:Tlr5 UTSW 1 182,973,892 (GRCm38) missense probably benign 0.00
R1563:Tlr5 UTSW 1 182,975,010 (GRCm38) missense probably benign 0.09
R1775:Tlr5 UTSW 1 182,973,722 (GRCm38) missense probably damaging 0.99
R1793:Tlr5 UTSW 1 182,972,447 (GRCm38) missense probably benign 0.00
R1991:Tlr5 UTSW 1 182,974,347 (GRCm38) missense probably damaging 1.00
R1992:Tlr5 UTSW 1 182,974,347 (GRCm38) missense probably damaging 1.00
R2114:Tlr5 UTSW 1 182,975,629 (GRCm38) missense probably damaging 1.00
R2116:Tlr5 UTSW 1 182,975,629 (GRCm38) missense probably damaging 1.00
R2225:Tlr5 UTSW 1 182,972,376 (GRCm38) start gained probably benign
R2265:Tlr5 UTSW 1 182,975,035 (GRCm38) missense possibly damaging 0.63
R2266:Tlr5 UTSW 1 182,975,035 (GRCm38) missense possibly damaging 0.63
R2268:Tlr5 UTSW 1 182,975,035 (GRCm38) missense possibly damaging 0.63
R2882:Tlr5 UTSW 1 182,973,893 (GRCm38) missense probably damaging 1.00
R3695:Tlr5 UTSW 1 182,975,347 (GRCm38) missense probably damaging 1.00
R3747:Tlr5 UTSW 1 182,974,439 (GRCm38) missense probably benign 0.01
R3749:Tlr5 UTSW 1 182,974,439 (GRCm38) missense probably benign 0.01
R4084:Tlr5 UTSW 1 182,974,848 (GRCm38) missense possibly damaging 0.60
R4794:Tlr5 UTSW 1 182,973,896 (GRCm38) missense probably benign 0.00
R4895:Tlr5 UTSW 1 182,974,199 (GRCm38) missense probably damaging 1.00
R4964:Tlr5 UTSW 1 182,973,473 (GRCm38) missense probably benign 0.07
R4966:Tlr5 UTSW 1 182,973,473 (GRCm38) missense probably benign 0.07
R5496:Tlr5 UTSW 1 182,973,632 (GRCm38) missense probably damaging 1.00
R6715:Tlr5 UTSW 1 182,972,659 (GRCm38) intron probably benign
R6825:Tlr5 UTSW 1 182,973,044 (GRCm38) intron probably benign
R6961:Tlr5 UTSW 1 182,973,511 (GRCm38) nonsense probably null
R7135:Tlr5 UTSW 1 182,975,523 (GRCm38) missense possibly damaging 0.87
R7232:Tlr5 UTSW 1 182,973,499 (GRCm38) missense probably benign 0.09
R7255:Tlr5 UTSW 1 182,974,316 (GRCm38) missense probably damaging 1.00
R7257:Tlr5 UTSW 1 182,974,233 (GRCm38) nonsense probably null
R8887:Tlr5 UTSW 1 182,973,767 (GRCm38) missense probably benign 0.07
R9116:Tlr5 UTSW 1 182,974,595 (GRCm38) missense probably benign
R9224:Tlr5 UTSW 1 182,975,128 (GRCm38) missense probably benign 0.10
R9284:Tlr5 UTSW 1 182,973,812 (GRCm38) missense probably benign 0.00
Z1177:Tlr5 UTSW 1 182,973,817 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTAGATCTTTCTGAAAATGGCTGG -3'
(R):5'- ACGTAGGCTACTCTAGGAAGC -3'

Posted On 2017-07-14