Incidental Mutation 'R4630:Tlr4'
ID 349102
Institutional Source Beutler Lab
Gene Symbol Tlr4
Ensembl Gene ENSMUSG00000039005
Gene Name toll-like receptor 4
Synonyms Lps, lipopolysaccharide response, Rasl2-8
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 66745788-66765338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66757477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 90 (E90G)
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 benign
Transcript: ENSMUST00000048096
AA Change: E90G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: E90G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null 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
R0449:Tlr4 UTSW 4 66,757,857 (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
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'- ACAAATCTGCAGAGTTCCTCTCC -3'
(R):5'- GAGCCACATTGAGTTTCTTTAAGG -3'

Sequencing Primer
(F):5'- CTGCTCACACCATCATCACCTG -3'
(R):5'- TAAGGTTATAAGCTGTCCAATAGGG -3'
Posted On 2015-10-08