Incidental Mutation 'IGL01480:Tlr5'
ID 88567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlr5
Ensembl Gene ENSMUSG00000079164
Gene Name toll-like receptor 5
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # IGL01480
Quality Score
Status
Chromosome 1
Chromosomal Location 182782353-182804010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 182801064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 123 (E123K)
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: E123K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: E123K

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 benign
Transcript: ENSMUST00000191820
AA Change: E109K

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: E109K

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 probably benign
Transcript: ENSMUST00000193687
AA Change: E123K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: E123K

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
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,423,635 (GRCm39) C379* probably null Het
Ankrd10 A G 8: 11,685,592 (GRCm39) V9A probably benign Het
Ankrd13a A T 5: 114,938,879 (GRCm39) probably benign Het
Bbs1 T C 19: 4,944,421 (GRCm39) K403E probably damaging Het
Ccn3 A G 15: 54,615,687 (GRCm39) Y284C probably damaging Het
Cd200r2 A G 16: 44,729,629 (GRCm39) I95V probably null Het
Cyba T C 8: 123,151,684 (GRCm39) E171G probably benign Het
Dnah2 T A 11: 69,349,197 (GRCm39) M2480L possibly damaging Het
Fxyd7 A T 7: 30,746,799 (GRCm39) Y20* probably null Het
Il22ra1 T C 4: 135,472,112 (GRCm39) V216A probably benign Het
Mapk10 G A 5: 103,074,018 (GRCm39) probably benign Het
Mgat5b C A 11: 116,869,278 (GRCm39) T607K probably benign Het
Optn G A 2: 5,050,829 (GRCm39) S184L probably benign Het
Or10d5 G A 9: 39,861,284 (GRCm39) A261V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or1p1c A T 11: 74,160,427 (GRCm39) I71L possibly damaging Het
Or7a42 T C 10: 78,791,978 (GRCm39) probably benign Het
Plxna1 A G 6: 89,321,078 (GRCm39) L462P possibly damaging Het
Prkca C T 11: 108,083,027 (GRCm39) V73M probably damaging Het
Prkca A G 11: 107,877,115 (GRCm39) F339L possibly damaging Het
Ptch2 T C 4: 116,971,279 (GRCm39) V1062A probably damaging Het
Serpina11 T A 12: 103,949,110 (GRCm39) K354* probably null Het
Sf1 T C 19: 6,422,052 (GRCm39) probably benign Het
Stam2 A G 2: 52,606,451 (GRCm39) S112P probably benign Het
Tpp1 T C 7: 105,398,260 (GRCm39) E301G probably damaging Het
Vmn2r58 T A 7: 41,514,116 (GRCm39) I176F 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
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
R7255:Tlr5 UTSW 1 182,801,881 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-11-18