Incidental Mutation 'R0449:Tlr4'
ID 39505
Institutional Source Beutler Lab
Gene Symbol Tlr4
Ensembl Gene ENSMUSG00000039005
Gene Name toll-like receptor 4
Synonyms Lps, lipopolysaccharide response, Rasl2-8
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0449 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 66745788-66765338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 66757857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 217 (I217L)
Ref Sequence ENSEMBL: ENSMUSP00000045770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048096] [ENSMUST00000107365]
AlphaFold Q9QUK6
PDB Structure Crystal structure of mouse TLR4 and mouse MD-2 complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/lipid IVa complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/LPS complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000048096
AA Change: I217L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: I217L

DomainStartEndE-ValueType
LRR 76 99 7.36e0 SMART
LRR 100 123 1.86e0 SMART
LRR 173 196 8.24e0 SMART
LRR 370 401 4.33e1 SMART
LRR 468 492 2.54e2 SMART
LRR 493 516 1.86e2 SMART
LRR 517 540 1.67e2 SMART
LRR 541 563 1.92e2 SMART
LRRCT 576 626 4.74e-3 SMART
transmembrane domain 636 658 N/A INTRINSIC
TIR 671 816 7.3e-39 SMART
low complexity region 822 833 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107365
SMART Domains Protein: ENSMUSP00000102988
Gene: ENSMUSG00000039005

DomainStartEndE-ValueType
PDB:3VQ2|B 22 86 2e-38 PDB
SCOP:d1m0za_ 27 86 4e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147008
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the evolutionarily-conserved Toll-like receptor family, whose members are type-1 transmembrane proteins that are involved in innate immunity. Toll-like receptors are characterized by an extracellular leucine-rich repeat domain that functions in ligand recognition and an intracellular toll/interleukin-1 receptor-like domain that is crucial for signal transduction. The receptor encoded by this gene mediates the innate immune response to bacterial lipopolysaccharide, a major component of the outer membrane of Gram-negative bacteria, through synthesis of pro-inflammatory cytokines and chemokines. In addition, this protein can recognize other pathogens from Gram-negative and Gram-positive bacteria as well as viral components. Mice deficient in this gene display a number of immune response-related phenotypes including hyporesponsiveness to bacterial lipopolysaccharide and increased levels of respiratory syncytial virus compared to controls. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted(2) Spontaneous(6) Chemically induced(2)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q probably damaging Het
Other mutations in Tlr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Tlr4 APN 4 66,758,662 (GRCm39) missense probably benign 0.01
IGL01343:Tlr4 APN 4 66,752,124 (GRCm39) splice site probably benign
IGL01669:Tlr4 APN 4 66,759,504 (GRCm39) missense possibly damaging 0.48
IGL01875:Tlr4 APN 4 66,757,726 (GRCm39) missense probably damaging 1.00
IGL02138:Tlr4 APN 4 66,759,202 (GRCm39) missense probably damaging 0.99
IGL02244:Tlr4 APN 4 66,752,298 (GRCm39) critical splice donor site probably null
IGL02793:Tlr4 APN 4 66,757,681 (GRCm39) missense probably damaging 1.00
IGL03269:Tlr4 APN 4 66,759,033 (GRCm39) missense probably damaging 1.00
IGL03288:Tlr4 APN 4 66,757,990 (GRCm39) missense probably damaging 0.99
bugsy UTSW 4 66,757,491 (GRCm39) nonsense probably null
Cruyff UTSW 4 66,758,563 (GRCm39) missense probably damaging 1.00
don_knotts UTSW 4 66,759,409 (GRCm39) missense probably damaging 1.00
Guardiola UTSW 4 66,757,540 (GRCm39) missense probably damaging 1.00
Lops UTSW 4 66,752,117 (GRCm39) splice site probably null
lps3 UTSW 4 66,759,334 (GRCm39) missense probably damaging 1.00
Lps4 UTSW 4 66,759,379 (GRCm39) missense probably damaging 1.00
milquetoast UTSW 4 66,757,681 (GRCm39) missense probably damaging 1.00
salvador UTSW 4 66,758,443 (GRCm39) missense probably damaging 0.99
R0481:Tlr4 UTSW 4 66,746,153 (GRCm39) missense probably benign 0.05
R0576:Tlr4 UTSW 4 66,757,732 (GRCm39) missense probably benign 0.00
R0827:Tlr4 UTSW 4 66,752,117 (GRCm39) splice site probably null
R1488:Tlr4 UTSW 4 66,757,786 (GRCm39) missense probably damaging 1.00
R1490:Tlr4 UTSW 4 66,757,611 (GRCm39) missense possibly damaging 0.56
R1522:Tlr4 UTSW 4 66,757,933 (GRCm39) missense possibly damaging 0.80
R1616:Tlr4 UTSW 4 66,757,717 (GRCm39) missense probably damaging 1.00
R1681:Tlr4 UTSW 4 66,759,342 (GRCm39) missense probably damaging 1.00
R1738:Tlr4 UTSW 4 66,759,313 (GRCm39) missense probably benign 0.19
R1888:Tlr4 UTSW 4 66,759,409 (GRCm39) missense probably damaging 1.00
R1888:Tlr4 UTSW 4 66,759,409 (GRCm39) missense probably damaging 1.00
R1929:Tlr4 UTSW 4 66,757,681 (GRCm39) missense probably damaging 1.00
R1982:Tlr4 UTSW 4 66,759,272 (GRCm39) missense probably benign 0.40
R1998:Tlr4 UTSW 4 66,758,707 (GRCm39) missense probably damaging 1.00
R2186:Tlr4 UTSW 4 66,758,220 (GRCm39) missense possibly damaging 0.63
R2305:Tlr4 UTSW 4 66,758,338 (GRCm39) missense probably damaging 1.00
R3011:Tlr4 UTSW 4 66,757,491 (GRCm39) nonsense probably null
R3420:Tlr4 UTSW 4 66,757,773 (GRCm39) missense probably benign 0.37
R3422:Tlr4 UTSW 4 66,757,773 (GRCm39) missense probably benign 0.37
R3818:Tlr4 UTSW 4 66,759,553 (GRCm39) missense probably benign 0.00
R4212:Tlr4 UTSW 4 66,758,563 (GRCm39) missense probably damaging 1.00
R4213:Tlr4 UTSW 4 66,758,563 (GRCm39) missense probably damaging 1.00
R4417:Tlr4 UTSW 4 66,757,540 (GRCm39) missense probably damaging 1.00
R4630:Tlr4 UTSW 4 66,757,477 (GRCm39) missense probably benign 0.44
R4735:Tlr4 UTSW 4 66,759,435 (GRCm39) missense probably damaging 1.00
R5191:Tlr4 UTSW 4 66,759,616 (GRCm39) missense probably damaging 0.96
R5613:Tlr4 UTSW 4 66,759,122 (GRCm39) missense possibly damaging 0.94
R5705:Tlr4 UTSW 4 66,752,217 (GRCm39) missense probably damaging 1.00
R5726:Tlr4 UTSW 4 66,758,652 (GRCm39) missense probably benign
R6021:Tlr4 UTSW 4 66,759,103 (GRCm39) missense probably damaging 1.00
R6159:Tlr4 UTSW 4 66,758,070 (GRCm39) missense possibly damaging 0.92
R6227:Tlr4 UTSW 4 66,758,832 (GRCm39) missense probably benign
R7139:Tlr4 UTSW 4 66,758,520 (GRCm39) missense probably benign 0.06
R7199:Tlr4 UTSW 4 66,759,430 (GRCm39) missense probably damaging 0.99
R7220:Tlr4 UTSW 4 66,758,188 (GRCm39) missense probably benign
R7337:Tlr4 UTSW 4 66,758,191 (GRCm39) missense possibly damaging 0.86
R7487:Tlr4 UTSW 4 66,842,659 (GRCm39) missense probably benign 0.00
R7638:Tlr4 UTSW 4 66,758,443 (GRCm39) missense probably damaging 0.99
R7773:Tlr4 UTSW 4 66,757,836 (GRCm39) missense probably damaging 1.00
R7814:Tlr4 UTSW 4 66,759,316 (GRCm39) missense probably damaging 1.00
R7897:Tlr4 UTSW 4 66,758,058 (GRCm39) missense probably benign 0.07
R8044:Tlr4 UTSW 4 66,746,084 (GRCm39) missense probably benign 0.01
R8062:Tlr4 UTSW 4 66,758,087 (GRCm39) missense probably benign 0.00
R8080:Tlr4 UTSW 4 66,757,713 (GRCm39) missense probably damaging 1.00
R8446:Tlr4 UTSW 4 66,757,673 (GRCm39) missense probably damaging 0.98
R8916:Tlr4 UTSW 4 66,847,268 (GRCm39) missense probably benign 0.06
R9100:Tlr4 UTSW 4 66,758,518 (GRCm39) missense probably benign 0.08
R9415:Tlr4 UTSW 4 66,746,160 (GRCm39) critical splice donor site probably null
R9562:Tlr4 UTSW 4 66,759,522 (GRCm39) missense possibly damaging 0.80
R9565:Tlr4 UTSW 4 66,759,522 (GRCm39) missense possibly damaging 0.80
R9752:Tlr4 UTSW 4 66,757,912 (GRCm39) missense probably benign 0.02
X0064:Tlr4 UTSW 4 66,758,377 (GRCm39) missense probably damaging 0.99
Z1088:Tlr4 UTSW 4 66,847,319 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGACAAGGCATGGCATGGCTTAC -3'
(R):5'- GCAGAAACATTCGCCAAGCAATGG -3'

Sequencing Primer
(F):5'- CTCTAGAAAGCTTCCCTATTGGACAG -3'
(R):5'- CATCACATAGTCCTTCCATGATAGAG -3'
Posted On 2013-05-23