Mutagenetix > Incidental Mutation

Incidental Mutation 'R1563:Tlr5'

170724

Institutional Source

Beutler Lab

Gene Symbol

Tlr5

Ensembl Gene

ENSMUSG00000079164

Gene Name

toll-like receptor 5

Synonyms

MMRRC Submission

039602-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R1563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182782353-182804010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 182802575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 626 (M626I)

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: M626I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: M626I

Domain	Start	End	E-Value	Type
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: M612I

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: M612I

Domain	Start	End	E-Value	Type
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: M626I

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: M626I

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

98% (82/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,001,569 (GRCm39)	M22T	probably benign	Het
A930018M24Rik	A	G	14: 51,134,576 (GRCm39)	L22P	probably damaging	Het
Aipl1	A	T	11: 71,927,538 (GRCm39)	M59K	probably damaging	Het
Atg2b	T	C	12: 105,589,747 (GRCm39)	I1835V	probably damaging	Het
Cacna1i	A	T	15: 80,274,056 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,205,389 (GRCm39)	V115A	probably damaging	Het
Catsperb	T	A	12: 101,554,361 (GRCm39)	M685K	probably damaging	Het
Cdh10	T	A	15: 18,986,853 (GRCm39)	Y361*	probably null	Het
Clcn4	C	T	7: 7,296,981 (GRCm39)	C219Y	probably damaging	Het
Cpeb2	G	A	5: 43,443,080 (GRCm39)	V924M	probably damaging	Het
Cpxm2	T	C	7: 131,745,411 (GRCm39)	E138G	probably benign	Het
Dennd1a	T	C	2: 37,748,441 (GRCm39)	Y346C	probably damaging	Het
Dnah8	T	A	17: 30,854,638 (GRCm39)	L100Q	probably benign	Het
Dnajc6	A	C	4: 101,456,334 (GRCm39)	N76T	probably damaging	Het
Ehbp1	A	G	11: 22,009,231 (GRCm39)	L954P	probably damaging	Het
Eral1	A	T	11: 77,966,232 (GRCm39)	D315E	probably benign	Het
Fbln2	G	T	6: 91,240,365 (GRCm39)	E724*	probably null	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Fzd3	T	A	14: 65,473,173 (GRCm39)	E198D	probably damaging	Het
Fzd9	T	C	5: 135,279,408 (GRCm39)	N159S	probably damaging	Het
Galnt6	T	A	15: 100,601,259 (GRCm39)	Q340L	probably benign	Het
Gm20939	C	T	17: 95,184,522 (GRCm39)	A390V	probably damaging	Het
Gm5435	T	G	12: 82,542,464 (GRCm39)		noncoding transcript	Het
Gm9949	A	C	18: 62,317,089 (GRCm39)		probably benign	Het
Gprc5b	G	A	7: 118,582,984 (GRCm39)	T295I	probably benign	Het
Gria2	G	T	3: 80,598,704 (GRCm39)	Q777K	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haao	T	C	17: 84,142,318 (GRCm39)	T174A	probably benign	Het
Hes6	A	T	1: 91,340,858 (GRCm39)	M1K	probably null	Het
Hook3	G	T	8: 26,600,780 (GRCm39)	Q43K	probably benign	Het
Klhl35	T	C	7: 99,120,902 (GRCm39)	V390A	probably damaging	Het
Myh9	G	T	15: 77,656,057 (GRCm39)	T1151K	probably damaging	Het
Nbn	A	T	4: 15,981,668 (GRCm39)	I587F	possibly damaging	Het
Nek4	A	G	14: 30,704,408 (GRCm39)	D696G	probably damaging	Het
Niban1	A	T	1: 151,591,424 (GRCm39)	Y522F	possibly damaging	Het
Nlrp2	T	C	7: 5,311,724 (GRCm39)	D52G	probably damaging	Het
Oit3	G	T	10: 59,263,896 (GRCm39)	R413S	probably damaging	Het
Or4k48	T	A	2: 111,476,027 (GRCm39)	H105L	probably damaging	Het
Or6c1b	A	G	10: 129,273,580 (GRCm39)	M300V	probably benign	Het
Otof	T	C	5: 30,528,349 (GRCm39)	T1870A	probably benign	Het
Pdgfd	T	C	9: 6,293,939 (GRCm39)		probably null	Het
Pitrm1	T	C	13: 6,613,506 (GRCm39)	V526A	possibly damaging	Het
Pknox1	T	C	17: 31,814,256 (GRCm39)	S194P	probably damaging	Het
Plekhg5	T	C	4: 152,181,266 (GRCm39)	S8P	probably benign	Het
Ppp1r13b	T	C	12: 111,807,416 (GRCm39)	E157G	probably damaging	Het
Psmd3	C	T	11: 98,585,051 (GRCm39)	R466W	probably damaging	Het
Ptgfrn	A	G	3: 100,967,967 (GRCm39)	F542S	possibly damaging	Het
Ptgs1	A	T	2: 36,135,214 (GRCm39)	M393L	possibly damaging	Het
Qpct	T	A	17: 79,371,492 (GRCm39)	S87T	probably benign	Het
Qtrt1	T	A	9: 21,330,607 (GRCm39)	V269D	probably benign	Het
Rassf9	C	G	10: 102,380,821 (GRCm39)	R68G	probably damaging	Het
Relch	A	G	1: 105,647,259 (GRCm39)	Y707C	probably damaging	Het
Rif1	A	G	2: 51,963,235 (GRCm39)	E25G	probably damaging	Het
Rnf213	T	C	11: 119,305,352 (GRCm39)	F528L	probably benign	Het
Sgip1	T	C	4: 102,823,457 (GRCm39)	S693P	probably benign	Het
She	A	G	3: 89,761,921 (GRCm39)	D460G	probably benign	Het
Sipa1l1	G	T	12: 82,387,935 (GRCm39)	V54L	probably benign	Het
Slc8a3	T	A	12: 81,251,781 (GRCm39)	D640V	possibly damaging	Het
Smurf1	T	A	5: 144,819,323 (GRCm39)	E601D	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synpo2l	A	G	14: 20,711,346 (GRCm39)	S425P	probably damaging	Het
Tbck	T	C	3: 132,421,454 (GRCm39)	V187A	possibly damaging	Het
Tcf23	A	T	5: 31,126,175 (GRCm39)	H18L	probably benign	Het
Tcp11l2	A	G	10: 84,420,808 (GRCm39)	S16G	probably damaging	Het
Tekt2	T	A	4: 126,217,200 (GRCm39)	M233L	probably benign	Het
Tex14	T	C	11: 87,427,634 (GRCm39)	S29P	probably damaging	Het
Tjp2	T	A	19: 24,110,067 (GRCm39)	N59I	probably damaging	Het
Tnn	A	T	1: 159,952,985 (GRCm39)	V685D	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trhr	G	A	15: 44,060,497 (GRCm39)	V6I	probably benign	Het
Trim30c	C	T	7: 104,032,158 (GRCm39)	R301Q	probably benign	Het
Usp51	T	C	X: 151,790,988 (GRCm39)	I194T	probably benign	Het
Vmn2r63	A	G	7: 42,553,550 (GRCm39)	S569P	probably benign	Het
Vps26a	T	G	10: 62,300,459 (GRCm39)	I236L	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zcchc14	T	C	8: 122,330,718 (GRCm39)	M882V	probably benign	Het
Zfhx2	A	G	14: 55,302,545 (GRCm39)	V1813A	probably benign	Het
Zswim2	C	T	2: 83,745,626 (GRCm39)	G604D	possibly damaging	Het
Zzef1	C	T	11: 72,739,559 (GRCm39)	Q669*	probably null	Het

Other mutations in Tlr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R3749: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'- TGCTAACAAGCTGACCGTGCTCTC -3'
(R):5'- ACTCCAGACCTTGTCCTTGAACACC -3'

Sequencing Primer
(F):5'- CCTGCTAATTTAGAGATTCTCGAC -3'
(R):5'- TGAACACCAGCTTCTGGATG -3'

Posted On

2014-04-13