Incidental Mutation 'R7337:Tlr4'
ID 569559
Institutional Source Beutler Lab
Gene Symbol Tlr4
Ensembl Gene ENSMUSG00000039005
Gene Name toll-like receptor 4
Synonyms Lps, lipopolysaccharide response, Rasl2-8
MMRRC Submission 045427-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7337 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 66745788-66765338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66758191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 328 (F328S)
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 possibly damaging
Transcript: ENSMUST00000048096
AA Change: F328S

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: F328S

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
Meta Mutation Damage Score 0.1863 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (88/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,076,113 (GRCm39) H1198Q probably damaging Het
Adamts14 A G 10: 61,043,239 (GRCm39) V743A probably damaging Het
Adgrg6 A G 10: 14,343,095 (GRCm39) V284A possibly damaging Het
Alb A G 5: 90,622,452 (GRCm39) K560R probably damaging Het
Aqp9 A T 9: 71,069,764 (GRCm39) F8L probably benign Het
Arhgef7 T C 8: 11,835,789 (GRCm39) L182P probably damaging Het
Atr A G 9: 95,753,501 (GRCm39) D701G probably damaging Het
Calr3 C T 8: 73,185,339 (GRCm39) D187N probably damaging Het
Ccdc198 A G 14: 49,471,948 (GRCm39) M163T possibly damaging Het
Ccdc65 A G 15: 98,618,977 (GRCm39) T319A probably benign Het
Ccdc66 A T 14: 27,222,290 (GRCm39) L151H probably damaging Het
Ces2e T A 8: 105,657,688 (GRCm39) probably null Het
Cfap46 A G 7: 139,210,492 (GRCm39) probably null Het
Cfap74 A G 4: 155,544,472 (GRCm39) T1034A unknown Het
Cldnd1 T G 16: 58,549,322 (GRCm39) probably null Het
Clec4f C A 6: 83,630,190 (GRCm39) V123L probably benign Het
Cntn6 C T 6: 104,627,491 (GRCm39) T108I probably damaging Het
Crygn T G 5: 24,961,147 (GRCm39) D53A possibly damaging Het
Cyp27a1 T A 1: 74,774,594 (GRCm39) V204E probably damaging Het
Cyp2c67 A T 19: 39,597,708 (GRCm39) probably null Het
Ddb1 T C 19: 10,605,195 (GRCm39) V1061A possibly damaging Het
Dnah12 G T 14: 26,488,534 (GRCm39) probably null Het
Draxin T C 4: 148,197,216 (GRCm39) T194A probably benign Het
Drosha T A 15: 12,846,285 (GRCm39) D473E possibly damaging Het
Ecpas T C 4: 58,827,047 (GRCm39) T1029A possibly damaging Het
G6pd2 T A 5: 61,967,562 (GRCm39) C446S probably benign Het
Gm29106 C T 1: 118,104,642 (GRCm39) S3L unknown Het
Grin3a T C 4: 49,702,762 (GRCm39) Y908C probably damaging Het
Ints2 G A 11: 86,108,668 (GRCm39) A893V probably benign Het
Ippk C T 13: 49,602,767 (GRCm39) T371I probably benign Het
Irf2 T A 8: 47,260,316 (GRCm39) C83S probably damaging Het
Jph3 C T 8: 122,480,441 (GRCm39) A373V probably benign Het
Kcnj6 C T 16: 94,634,073 (GRCm39) V13I probably benign Het
Lama3 T C 18: 12,640,097 (GRCm39) probably null Het
Lmo7 A T 14: 102,121,640 (GRCm39) Q235L probably damaging Het
Marchf7 A G 2: 60,071,189 (GRCm39) probably null Het
Mfsd6l A T 11: 68,448,109 (GRCm39) Y320F possibly damaging Het
Mroh1 T A 15: 76,335,676 (GRCm39) W1440R probably benign Het
Mrps17 G A 5: 129,793,863 (GRCm39) G19D probably damaging Het
Myt1 A G 2: 181,444,756 (GRCm39) H566R possibly damaging Het
Nav2 T C 7: 49,201,521 (GRCm39) L176P possibly damaging Het
Nop58 T A 1: 59,737,599 (GRCm39) C139S probably benign Het
Nsd1 A G 13: 55,394,022 (GRCm39) D644G probably damaging Het
Nsd2 T A 5: 34,042,816 (GRCm39) C1027S probably damaging Het
Nsmce2 A G 15: 59,473,265 (GRCm39) I235V probably damaging Het
Nyap2 T C 1: 81,314,230 (GRCm39) V642A possibly damaging Het
Or14n1-ps1 A T 7: 86,092,328 (GRCm39) L46F unknown Het
Or8g51 A G 9: 38,609,161 (GRCm39) V167A probably benign Het
Paqr7 A G 4: 134,234,431 (GRCm39) D96G probably benign Het
Parp4 A G 14: 56,839,852 (GRCm39) Y520C probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Piezo1 A T 8: 123,212,463 (GRCm39) Y1955N Het
Pnma8a A G 7: 16,695,315 (GRCm39) K390R probably benign Het
Prdm10 G T 9: 31,227,537 (GRCm39) Q47H probably damaging Het
Psg22 T A 7: 18,453,499 (GRCm39) F104I probably benign Het
Ptprf T C 4: 118,068,322 (GRCm39) E1738G probably damaging Het
Rad21l A T 2: 151,500,365 (GRCm39) L218Q probably damaging Het
Rad54l2 A G 9: 106,583,024 (GRCm39) I798T probably damaging Het
Rgs5 G T 1: 169,483,149 (GRCm39) M1I probably null Het
Rhbdl2 T C 4: 123,711,659 (GRCm39) V132A possibly damaging Het
Rmi1 T A 13: 58,557,393 (GRCm39) Y547* probably null Het
Rptn A T 3: 93,304,212 (GRCm39) D515V probably benign Het
Rsph10b A G 5: 143,898,033 (GRCm39) N505D probably benign Het
Samhd1 T C 2: 156,948,164 (GRCm39) D539G probably damaging Het
Scube3 A T 17: 28,387,156 (GRCm39) I885F probably damaging Het
Sfmbt1 A G 14: 30,506,696 (GRCm39) I247V possibly damaging Het
Slc25a21 T C 12: 56,904,828 (GRCm39) I62V probably benign Het
Slc4a11 T A 2: 130,527,452 (GRCm39) N648Y probably damaging Het
Slc7a11 A G 3: 50,397,448 (GRCm39) V88A possibly damaging Het
Slc7a8 A C 14: 54,964,263 (GRCm39) F397V possibly damaging Het
Sox12 A C 2: 152,239,377 (GRCm39) L81R probably damaging Het
Spg11 T C 2: 121,915,474 (GRCm39) I1057V probably benign Het
St8sia3 G A 18: 64,402,987 (GRCm39) V265I probably benign Het
Stxbp5 A G 10: 9,684,874 (GRCm39) S509P possibly damaging Het
Svep1 T C 4: 58,108,323 (GRCm39) Y1129C probably damaging Het
Tenm4 G T 7: 96,523,333 (GRCm39) R1625L probably benign Het
Tmprss15 T C 16: 78,868,164 (GRCm39) T215A probably benign Het
Tmprss9 A T 10: 80,718,504 (GRCm39) I62L probably benign Het
Trpm5 C T 7: 142,642,756 (GRCm39) A64T probably benign Het
Txk A C 5: 72,889,109 (GRCm39) Y148* probably null Het
Uba5 C T 9: 103,932,454 (GRCm39) G170R possibly damaging Het
Uggt2 A T 14: 119,323,587 (GRCm39) D231E probably benign Het
Ulk4 A T 9: 121,077,993 (GRCm39) D525E probably benign Het
Vmn1r158 T A 7: 22,489,649 (GRCm39) T187S probably benign Het
Vmn1r52 T A 6: 90,156,605 (GRCm39) M303K probably benign Het
Vmn2r54 A G 7: 12,356,044 (GRCm39) F454S probably benign Het
Zbp1 A T 2: 173,060,546 (GRCm39) L8* probably null Het
Zmym2 A T 14: 57,181,557 (GRCm39) D924V probably benign 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
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
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'- ACGTCCATCGGTTGATCTTG -3'
(R):5'- CCACTAAAGCTCAGTGCATTTC -3'

Sequencing Primer
(F):5'- GGAATCTGGAAATTTTTGAACCCTC -3'
(R):5'- GCTCAGTGCATTTCTACTAAGATC -3'
Posted On 2019-09-13