Incidental Mutation 'R7255:Tlr5'
ID 564177
Institutional Source Beutler Lab
Gene Symbol Tlr5
Ensembl Gene ENSMUSG00000079164
Gene Name toll-like receptor 5
Synonyms
MMRRC Submission 045316-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R7255 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182782353-182804010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182801881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 395 (F395S)
Ref Sequence ENSEMBL: ENSMUSP00000106625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110997] [ENSMUST00000191820] [ENSMUST00000193687]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000110997
AA Change: F395S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: F395S

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 probably damaging
Transcript: ENSMUST00000191820
AA Change: F381S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: F381S

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 probably damaging
Transcript: ENSMUST00000193687
AA Change: F395S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: F395S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,692,092 (GRCm39) S234P probably damaging Het
Arhgap28 T C 17: 68,159,999 (GRCm39) H650R probably damaging Het
Asic1 A G 15: 99,595,338 (GRCm39) D355G probably damaging Het
Atp8b1 T A 18: 64,689,939 (GRCm39) S598C probably damaging Het
Bcat1 C A 6: 144,978,511 (GRCm39) E237* probably null Het
Btbd16 A T 7: 130,387,722 (GRCm39) I114F probably benign Het
Casp2 A G 6: 42,245,841 (GRCm39) D166G probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cpsf1 G A 15: 76,481,743 (GRCm39) T1099M probably damaging Het
Crisp4 C A 1: 18,200,455 (GRCm39) A116S probably damaging Het
Cyb5r3 A G 15: 83,044,366 (GRCm39) I168T probably damaging Het
Dip2b G A 15: 100,107,508 (GRCm39) D1407N probably benign Het
Dnajc8 A G 4: 132,278,884 (GRCm39) K201R probably benign Het
Dock10 C T 1: 80,520,816 (GRCm39) probably null Het
Dop1b C A 16: 93,567,034 (GRCm39) H1272N probably damaging Het
Dsc1 C T 18: 20,230,330 (GRCm39) R325Q probably benign Het
Enpp1 A T 10: 24,521,213 (GRCm39) I838K possibly damaging Het
Fcna T G 2: 25,516,040 (GRCm39) D159A probably damaging Het
Flnc G T 6: 29,445,765 (GRCm39) G840C probably damaging Het
Flt1 C T 5: 147,517,216 (GRCm39) A1024T probably damaging Het
Galc T C 12: 98,212,514 (GRCm39) K207R probably null Het
Gbp2b T A 3: 142,313,878 (GRCm39) L386Q probably damaging Het
Gm8297 T A 14: 16,165,868 (GRCm39) N48K probably damaging Het
Gm9639 G A 10: 77,630,372 (GRCm39) P180L unknown Het
Inpp5a A G 7: 139,091,364 (GRCm39) N116S probably damaging Het
Ipo9 T C 1: 135,313,726 (GRCm39) E984G probably benign Het
Klra4 A G 6: 130,036,605 (GRCm39) F145L probably damaging Het
Lag3 A G 6: 124,887,198 (GRCm39) L123P probably benign Het
Lyz3 T C 10: 117,070,327 (GRCm39) H150R probably benign Het
Med7 T A 11: 46,331,822 (GRCm39) M139K probably damaging Het
Mfsd2a A C 4: 122,845,814 (GRCm39) L153R possibly damaging Het
Mup9 A G 4: 60,377,336 (GRCm39) V71A probably benign Het
Myo16 A T 8: 10,549,169 (GRCm39) Q927L unknown Het
Myo9b T C 8: 71,743,535 (GRCm39) Y199H probably damaging Het
Nefm A G 14: 68,353,449 (GRCm39) F406L probably benign Het
Or10ag2 T A 2: 87,249,286 (GRCm39) L296Q probably damaging Het
Or10ak11 A T 4: 118,687,149 (GRCm39) F162I probably benign Het
Pamr1 T C 2: 102,441,929 (GRCm39) F173L probably damaging Het
Pds5b T A 5: 150,720,132 (GRCm39) D1205E probably benign Het
Plxna2 T G 1: 194,434,411 (GRCm39) F646V probably benign Het
Pnrc1 C T 4: 33,248,045 (GRCm39) G118D probably benign Het
Ppp1r16b T C 2: 158,603,311 (GRCm39) F412S probably benign Het
Prcc A T 3: 87,777,398 (GRCm39) V192E probably damaging Het
Psg19 A G 7: 18,527,973 (GRCm39) Y257H probably benign Het
Rfx7 T G 9: 72,527,110 (GRCm39) S1433R possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Sanbr G A 11: 23,570,465 (GRCm39) P145L probably benign Het
Sbspon G T 1: 15,954,021 (GRCm39) C86* probably null Het
Sdhb A G 4: 140,704,729 (GRCm39) E230G possibly damaging Het
Sema6b T C 17: 56,432,336 (GRCm39) T581A probably benign Het
Shkbp1 G T 7: 27,042,173 (GRCm39) T594K possibly damaging Het
Shpk A G 11: 73,090,486 (GRCm39) S48G probably benign Het
Slc1a3 A G 15: 8,672,483 (GRCm39) V332A possibly damaging Het
Slc25a25 T C 2: 32,311,384 (GRCm39) E135G possibly damaging Het
Slc5a8 A T 10: 88,745,493 (GRCm39) D367V probably damaging Het
Slco1c1 A G 6: 141,515,051 (GRCm39) T649A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats1 T A 17: 45,765,131 (GRCm39) D163V probably damaging Het
Ssh2 T A 11: 77,316,419 (GRCm39) M304K probably damaging Het
Sulf1 T A 1: 12,929,232 (GRCm39) D166E probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Tcf7l1 A T 6: 72,604,330 (GRCm39) probably null Het
Tet1 A T 10: 62,658,415 (GRCm39) M1477K probably benign Het
Trrap T C 5: 144,795,764 (GRCm39) L3847P probably damaging Het
Tsks C T 7: 44,602,112 (GRCm39) S276L probably benign Het
Uggt1 T C 1: 36,185,187 (GRCm39) E1519G probably damaging Het
Vps13a A G 19: 16,631,703 (GRCm39) probably null Het
Wdfy4 A G 14: 32,696,239 (GRCm39) V2768A Het
Wdr26 A C 1: 181,008,889 (GRCm39) I627R probably benign Het
Zfp160 T A 17: 21,245,749 (GRCm39) S100T probably benign Het
Other mutations in Tlr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Tlr5 APN 1 182,801,394 (GRCm39) missense probably benign
IGL00940:Tlr5 APN 1 182,801,761 (GRCm39) missense possibly damaging 0.84
IGL01302:Tlr5 APN 1 182,802,313 (GRCm39) missense probably benign 0.00
IGL01480:Tlr5 APN 1 182,801,064 (GRCm39) missense probably benign 0.09
IGL01717:Tlr5 APN 1 182,802,963 (GRCm39) missense probably damaging 1.00
IGL01896:Tlr5 APN 1 182,802,444 (GRCm39) missense possibly damaging 0.64
IGL02083:Tlr5 APN 1 182,801,449 (GRCm39) missense possibly damaging 0.91
IGL02135:Tlr5 APN 1 182,800,819 (GRCm39) missense possibly damaging 0.82
R0464:Tlr5 UTSW 1 182,801,275 (GRCm39) missense probably benign 0.01
R0552:Tlr5 UTSW 1 182,803,261 (GRCm39) splice site probably null
R0556:Tlr5 UTSW 1 182,801,716 (GRCm39) missense probably damaging 1.00
R0639:Tlr5 UTSW 1 182,801,454 (GRCm39) missense probably damaging 1.00
R0670:Tlr5 UTSW 1 182,801,454 (GRCm39) missense probably damaging 1.00
R1014:Tlr5 UTSW 1 182,803,242 (GRCm39) missense probably benign 0.00
R1125:Tlr5 UTSW 1 182,801,457 (GRCm39) missense probably benign 0.00
R1563:Tlr5 UTSW 1 182,802,575 (GRCm39) missense probably benign 0.09
R1775:Tlr5 UTSW 1 182,801,287 (GRCm39) missense probably damaging 0.99
R1793:Tlr5 UTSW 1 182,800,012 (GRCm39) missense probably benign 0.00
R1991:Tlr5 UTSW 1 182,801,912 (GRCm39) missense probably damaging 1.00
R1992:Tlr5 UTSW 1 182,801,912 (GRCm39) missense probably damaging 1.00
R2114:Tlr5 UTSW 1 182,803,194 (GRCm39) missense probably damaging 1.00
R2116:Tlr5 UTSW 1 182,803,194 (GRCm39) missense probably damaging 1.00
R2225:Tlr5 UTSW 1 182,799,941 (GRCm39) start gained probably benign
R2265:Tlr5 UTSW 1 182,802,600 (GRCm39) missense possibly damaging 0.63
R2266:Tlr5 UTSW 1 182,802,600 (GRCm39) missense possibly damaging 0.63
R2268:Tlr5 UTSW 1 182,802,600 (GRCm39) missense possibly damaging 0.63
R2882:Tlr5 UTSW 1 182,801,458 (GRCm39) missense probably damaging 1.00
R3695:Tlr5 UTSW 1 182,802,912 (GRCm39) missense probably damaging 1.00
R3747:Tlr5 UTSW 1 182,802,004 (GRCm39) missense probably benign 0.01
R3749:Tlr5 UTSW 1 182,802,004 (GRCm39) missense probably benign 0.01
R4084:Tlr5 UTSW 1 182,802,413 (GRCm39) missense possibly damaging 0.60
R4794:Tlr5 UTSW 1 182,801,461 (GRCm39) missense probably benign 0.00
R4895:Tlr5 UTSW 1 182,801,764 (GRCm39) missense probably damaging 1.00
R4964:Tlr5 UTSW 1 182,801,038 (GRCm39) missense probably benign 0.07
R4966:Tlr5 UTSW 1 182,801,038 (GRCm39) missense probably benign 0.07
R5496:Tlr5 UTSW 1 182,801,197 (GRCm39) missense probably damaging 1.00
R6056:Tlr5 UTSW 1 182,801,603 (GRCm39) missense possibly damaging 0.76
R6715:Tlr5 UTSW 1 182,800,224 (GRCm39) intron probably benign
R6825:Tlr5 UTSW 1 182,800,609 (GRCm39) intron probably benign
R6961:Tlr5 UTSW 1 182,801,076 (GRCm39) nonsense probably null
R7135:Tlr5 UTSW 1 182,803,088 (GRCm39) missense possibly damaging 0.87
R7232:Tlr5 UTSW 1 182,801,064 (GRCm39) missense probably benign 0.09
R7257:Tlr5 UTSW 1 182,801,798 (GRCm39) nonsense probably null
R8887:Tlr5 UTSW 1 182,801,332 (GRCm39) missense probably benign 0.07
R9116:Tlr5 UTSW 1 182,802,160 (GRCm39) missense probably benign
R9224:Tlr5 UTSW 1 182,802,693 (GRCm39) missense probably benign 0.10
R9284:Tlr5 UTSW 1 182,801,377 (GRCm39) missense probably benign 0.00
Z1177:Tlr5 UTSW 1 182,801,382 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTGTTTGGGACACTGAAGG -3'
(R):5'- TCGGACAGGTTTTCTAGCCTG -3'

Sequencing Primer
(F):5'- TGAAGATGCTGAACCTTGCC -3'
(R):5'- GTTTTCAGATAACTCTAGGAAGTTGG -3'
Posted On 2019-06-26