Incidental Mutation 'R3749:Tlr5'
ID 310072
Institutional Source Beutler Lab
Gene Symbol Tlr5
Ensembl Gene ENSMUSG00000079164
Gene Name toll-like receptor 5
Synonyms
MMRRC Submission 040734-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R3749 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182782353-182804010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182802004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 436 (I436T)
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: I436T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: I436T

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: I422T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: I422T

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: I436T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: I436T

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 0.1084 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam19 A T 11: 46,028,437 (GRCm39) D690V probably benign Het
Ankib1 G T 5: 3,784,097 (GRCm39) P293Q probably damaging Het
Arhgap19 T A 19: 41,762,518 (GRCm39) E461V probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bub1b T A 2: 118,445,936 (GRCm39) N319K possibly damaging Het
Ccdc40 T C 11: 119,155,252 (GRCm39) V1164A probably benign Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Colq A T 14: 31,271,410 (GRCm39) probably benign Het
Daam1 C A 12: 72,017,940 (GRCm39) D716E probably damaging Het
Dnah17 T C 11: 117,973,742 (GRCm39) S1935G probably benign Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
Faap24 A T 7: 35,092,437 (GRCm39) V160D possibly damaging Het
Gpc1 C A 1: 92,785,304 (GRCm39) C414* probably null Het
Igkv9-120 G A 6: 68,026,985 (GRCm39) A7T probably benign Het
Kcnu1 T A 8: 26,376,798 (GRCm39) C391S probably null Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Lrp10 A T 14: 54,706,723 (GRCm39) N520I possibly damaging Het
Marchf6 A G 15: 31,462,160 (GRCm39) V856A probably benign Het
Mfsd1 T C 3: 67,490,286 (GRCm39) S46P probably benign Het
Mme T A 3: 63,250,961 (GRCm39) V334E probably damaging Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Obsl1 T C 1: 75,474,890 (GRCm39) T642A probably benign Het
Olfm1 C T 2: 28,098,100 (GRCm39) T54I probably damaging Het
Or10c1 G A 17: 37,522,691 (GRCm39) R18C possibly damaging Het
Or6c3b C T 10: 129,527,830 (GRCm39) V27I probably benign Het
Osbpl7 T C 11: 96,946,879 (GRCm39) V223A probably damaging Het
Patj A G 4: 98,357,837 (GRCm39) Y701C probably damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Scn2a T G 2: 65,544,115 (GRCm39) V832G probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc25a25 G T 2: 32,310,392 (GRCm39) N122K probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Supt16 A G 14: 52,417,596 (GRCm39) L306P probably damaging Het
Syne1 C T 10: 5,002,267 (GRCm39) probably benign Het
Tas2r136 A T 6: 132,754,200 (GRCm39) F309Y probably damaging Het
Terb1 T C 8: 105,223,466 (GRCm39) D114G probably damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Tpi1 T A 6: 124,789,754 (GRCm39) S130C probably damaging Het
Ttn G A 2: 76,584,350 (GRCm39) H22253Y probably damaging Het
Uggt2 A T 14: 119,295,084 (GRCm39) V38E probably benign Het
Vmn1r158 A C 7: 22,489,639 (GRCm39) L190W probably damaging Het
Vwa5b2 A G 16: 20,417,076 (GRCm39) probably benign Het
Wnt2 T C 6: 18,023,167 (GRCm39) I161V probably benign Het
Zdhhc25 C T 15: 88,485,226 (GRCm39) S187L probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zkscan1 T C 5: 138,099,703 (GRCm39) S476P probably damaging Het
Zmynd8 A G 2: 165,647,118 (GRCm39) Y945H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CTTCTATGGGCTTCCTAGAGTAG -3'
(R):5'- AGGCCAGCTGCAGCATATTC -3'

Sequencing Primer
(F):5'- GAGTAGCCTACGTTGACCTTCAAAG -3'
(R):5'- CAGCTGCAGCATATTCTCTGTAAGG -3'
Posted On 2015-04-17