Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Tlr4'

308149

Institutional Source

Beutler Lab

Gene Symbol

Tlr4

Ensembl Gene

ENSMUSG00000039005

Gene Name

toll-like receptor 4

Synonyms

Lps, lipopolysaccharide response, Rasl2-8

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66745788-66765338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66759409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 734 (V734A)

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: V734A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: V734A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.6261

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (65/65)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,960,030 (GRCm39)	M80T	unknown	Het
4930578I06Rik	A	G	14: 64,223,632 (GRCm39)	L48P	probably damaging	Het
Abcc9	A	G	6: 142,625,040 (GRCm39)	S452P	probably benign	Het
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,737,896 (GRCm39)		probably null	Het
Adgrl4	A	G	3: 151,144,914 (GRCm39)	N21S	probably benign	Het
Adss2	A	T	1: 177,612,517 (GRCm39)	Y77*	probably null	Het
Ahnak	A	T	19: 8,984,452 (GRCm39)	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,740,325 (GRCm39)	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Ankrd28	A	T	14: 31,453,982 (GRCm39)		probably benign	Het
Bbs12	C	A	3: 37,374,712 (GRCm39)	L387I	probably damaging	Het
BC023105	T	C	18: 60,575,571 (GRCm39)		noncoding transcript	Het
Ciita	T	C	16: 10,328,948 (GRCm39)	Y411H	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clec9a	G	A	6: 129,387,249 (GRCm39)	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,082 (GRCm39)	Q382L	possibly damaging	Het
Cracdl	T	C	1: 37,663,364 (GRCm39)	K845E	possibly damaging	Het
Dock2	A	T	11: 34,598,169 (GRCm39)	I334N	probably damaging	Het
Dock9	G	T	14: 121,862,617 (GRCm39)	T833K	probably benign	Het
Drd2	G	A	9: 49,313,442 (GRCm39)	V204I	probably benign	Het
Fam120a	A	T	13: 49,039,342 (GRCm39)	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,990,621 (GRCm39)	E1025G	unknown	Het
Fsip2	G	A	2: 82,774,504 (GRCm39)	D64N	probably benign	Het
Gm14496	T	A	2: 181,641,989 (GRCm39)	C553*	probably null	Het
Gm15587	C	G	5: 24,572,467 (GRCm39)		probably benign	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gvin3	A	T	7: 106,196,630 (GRCm39)		noncoding transcript	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Hmcn1	C	G	1: 150,695,251 (GRCm39)	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,115,217 (GRCm39)	F22S	probably damaging	Het
Il5ra	T	A	6: 106,708,874 (GRCm39)	N289Y	probably damaging	Het
Ilf2	T	C	3: 90,394,767 (GRCm39)		probably benign	Het
Irf2	A	T	8: 47,260,388 (GRCm39)	R107*	probably null	Het
Kcnk6	T	C	7: 28,925,075 (GRCm39)	I180M	probably benign	Het
Krtap5-3	G	A	7: 141,755,979 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,631,859 (GRCm39)	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,389,587 (GRCm39)	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,629,217 (GRCm39)	V521A	probably benign	Het
Macf1	T	G	4: 123,348,835 (GRCm39)	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,368,505 (GRCm39)	E2085D	probably benign	Het
Maml1	C	T	11: 50,157,468 (GRCm39)	A236T	probably benign	Het
Mdc1	C	A	17: 36,165,117 (GRCm39)	T1481K	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Homo
Med24	A	G	11: 98,598,108 (GRCm39)		probably benign	Het
Mfap3l	T	C	8: 61,124,424 (GRCm39)	V222A	possibly damaging	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mpped2	T	C	2: 106,529,790 (GRCm39)	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,056,528 (GRCm39)	T948K	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mtx3	A	G	13: 92,984,191 (GRCm39)	E156G	probably benign	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myh2	G	A	11: 67,071,676 (GRCm39)	V498M	probably damaging	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,799,562 (GRCm39)		probably null	Het
Ndufa2	T	A	18: 36,877,573 (GRCm39)		probably benign	Het
Nipal2	T	C	15: 34,625,167 (GRCm39)	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,669,926 (GRCm39)	N507S	possibly damaging	Het
Or4b12	A	G	2: 90,095,913 (GRCm39)	L287P	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,620,438 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,508,677 (GRCm39)	M1T	probably null	Het
Pear1	C	A	3: 87,717,882 (GRCm39)		probably benign	Het
Pla2g2d	T	C	4: 138,503,126 (GRCm39)	M1T	probably null	Het
Plekhg6	T	C	6: 125,340,306 (GRCm39)	T685A	probably damaging	Het
Pramel19	T	A	4: 101,798,335 (GRCm39)	V102E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Homo
Pxk	T	C	14: 8,151,540 (GRCm38)	S452P	probably damaging	Het
Rab42	A	T	4: 132,030,529 (GRCm39)	D40E	probably benign	Het
Rapgef6	A	C	11: 54,551,654 (GRCm39)	T836P	probably damaging	Het
Rtn1	A	G	12: 72,283,307 (GRCm39)		probably benign	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Slco6b1	A	G	1: 96,849,786 (GRCm39)		noncoding transcript	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sntb1	T	A	15: 55,612,745 (GRCm39)	R278*	probably null	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Stk40	T	A	4: 126,019,538 (GRCm39)	L90Q	probably damaging	Het
Syk	A	G	13: 52,794,826 (GRCm39)	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,704,224 (GRCm39)	V170M	possibly damaging	Het
Tcf12	A	T	9: 71,765,816 (GRCm39)	D541E	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmem132a	T	C	19: 10,840,863 (GRCm39)	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,712,044 (GRCm39)	I112T	probably benign	Het
Tmod1	C	T	4: 46,097,069 (GRCm39)		silent	Het
Trbc1	G	A	6: 41,512,570 (GRCm39)		probably benign	Het
Tril	A	G	6: 53,796,577 (GRCm39)	L215P	probably damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Ttn	G	A	2: 76,623,151 (GRCm39)	P15429S	probably damaging	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Tubgcp2	A	G	7: 139,579,183 (GRCm39)	V701A	probably damaging	Het
Tubgcp2	A	G	7: 139,586,069 (GRCm39)	F407L	probably damaging	Het
Usp45	T	C	4: 21,784,811 (GRCm39)		probably benign	Het
Vmn1r30	A	C	6: 58,412,475 (GRCm39)	L119R	possibly damaging	Het
Washc5	A	C	15: 59,231,174 (GRCm39)	L363R	probably damaging	Het
Zan	T	C	5: 137,387,590 (GRCm39)	T4874A	unknown	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,230,235 (GRCm39)	R497L	probably damaging	Het
Zmat4	A	G	8: 24,505,177 (GRCm39)	N139S	probably damaging	Het
Zng1	A	T	19: 24,932,769 (GRCm39)	V88D	probably damaging	Het

Other mutations in Tlr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGCATTTGTGATCTACTCGAGTC -3'
(R):5'- TCTCCAGAAGATGTGCCTCC -3'

Sequencing Primer
(F):5'- TGTGATCTACTCGAGTCAGAATGAG -3'
(R):5'- AGAAGATGTGCCTCCCCAGAG -3'

Posted On

2015-04-17