Mutagenetix > Incidental Mutation

Incidental Mutation 'R2268:Tlr5'

242201

Institutional Source

Beutler Lab

Gene Symbol

Tlr5

Ensembl Gene

ENSMUSG00000079164

Gene Name

toll-like receptor 5

Synonyms

MMRRC Submission

040268-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R2268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182782353-182804010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 182802600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 635 (S635T)

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: S635T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: S635T

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

possibly damaging
Transcript: ENSMUST00000191820
AA Change: S621T

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: S621T

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

possibly damaging
Transcript: ENSMUST00000193687
AA Change: S635T

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: S635T

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

Meta Mutation Damage Score

0.1392

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	T	14: 8,253,496 (GRCm38)	M217K	probably damaging	Het
Adam34	C	T	8: 44,103,647 (GRCm39)	R666H	probably benign	Het
Adap2	G	T	11: 80,056,552 (GRCm39)	Q188H	probably damaging	Het
Adgrb3	T	C	1: 25,150,898 (GRCm39)	T872A	possibly damaging	Het
Ahnak	A	G	19: 8,987,938 (GRCm39)	K3074R	possibly damaging	Het
Ano7	A	T	1: 93,308,161 (GRCm39)	D64V	possibly damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Arl13a	A	G	X: 133,106,162 (GRCm39)	Q236R	possibly damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Atn1	C	G	6: 124,723,203 (GRCm39)		probably benign	Het
Ccser1	C	T	6: 61,547,827 (GRCm39)	T118M	probably damaging	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Col17a1	G	A	19: 47,638,550 (GRCm39)	P1173S	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp4f17	G	T	17: 32,736,928 (GRCm39)	V87F	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dhodh	A	G	8: 110,321,306 (GRCm39)	F360S	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dynap	C	T	18: 70,374,218 (GRCm39)	A103T	probably benign	Het
Edem2	G	A	2: 155,544,137 (GRCm39)	P538S	probably benign	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Erich6	A	T	3: 58,526,260 (GRCm39)	S581T	probably benign	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fbn1	G	T	2: 125,163,661 (GRCm39)	A2065E	possibly damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Fzd9	A	G	5: 135,279,148 (GRCm39)	S246P	probably damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hmcn1	A	G	1: 150,500,349 (GRCm39)		probably benign	Het
Hps3	G	A	3: 20,067,099 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Irs2	T	C	8: 11,057,586 (GRCm39)	E282G	probably damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kif14	T	A	1: 136,447,486 (GRCm39)	C1430*	probably null	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lamb1	A	T	12: 31,377,644 (GRCm39)	I1630F	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Myoc	C	T	1: 162,476,625 (GRCm39)	T443M	probably damaging	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Opcml	T	C	9: 28,814,651 (GRCm39)	I301T	possibly damaging	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or8b1	T	A	9: 38,399,504 (GRCm39)	Y60N	probably damaging	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Rdh7	A	G	10: 127,720,530 (GRCm39)	S281P	probably benign	Het
Rps17	C	T	7: 80,994,746 (GRCm39)	R5H	probably benign	Het
Scgb1b2	T	A	7: 30,991,201 (GRCm39)		probably benign	Het
Skic3	T	G	13: 76,260,393 (GRCm39)		probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Snap23	A	G	2: 120,429,793 (GRCm39)	T213A	probably benign	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,097,973 (GRCm39)	S44P	probably damaging	Het
St8sia5	T	C	18: 77,320,526 (GRCm39)	S93P	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbc1d22b	A	G	17: 29,818,828 (GRCm39)	H394R	probably damaging	Het
Tbx5	A	T	5: 119,983,174 (GRCm39)		probably null	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vangl1	A	T	3: 102,104,160 (GRCm39)	Y7N	probably damaging	Het
Vav2	A	T	2: 27,182,667 (GRCm39)		probably null	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r15	A	G	5: 109,441,073 (GRCm39)	Y262H	probably benign	Het
Vmn2r76	T	C	7: 85,879,707 (GRCm39)	M198V	probably benign	Het
Zfp831	A	C	2: 174,486,034 (GRCm39)	R236S	probably benign	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
R1563:Tlr5	UTSW	1	182,802,575 (GRCm39)	missense	probably benign	0.09
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
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'- AGAAATCAGCTTTTCTCTCCTGAC -3'
(R):5'- TGCACCAGGTTCCAAACTCC -3'

Sequencing Primer
(F):5'- GACCCTGCTTTGTTTTCTTCG -3'
(R):5'- GACCTTGTCCTTGAACACCAG -3'

Posted On

2014-10-16