Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Tlr5'

564310

Institutional Source

Beutler Lab

Gene Symbol

Tlr5

Ensembl Gene

ENSMUSG00000079164

Gene Name

toll-like receptor 5

Synonyms

MMRRC Submission

045318-MU

Accession Numbers

Essential gene?

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

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

182782353-182804010 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 182801798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 367 (Y367*)

Ref Sequence

ENSEMBL: ENSMUSP00000106625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110997] [ENSMUST00000191820] [ENSMUST00000193687]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000110997
AA Change: Y367*

SMART Domains

Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: Y367*

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 null
Transcript: ENSMUST00000191820
AA Change: Y353*

SMART Domains

Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: Y353*

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

probably null
Transcript: ENSMUST00000193687
AA Change: Y367*

SMART Domains

Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: Y367*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,816,434 (GRCm39)	V120E	probably benign	Het
Acot11	G	A	4: 106,615,599 (GRCm39)	T284M	probably damaging	Het
Adk	G	T	14: 21,102,739 (GRCm39)	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,138,966 (GRCm39)	N316K	probably benign	Het
AL732309.1	A	T	2: 25,135,851 (GRCm39)	V121D	probably benign	Het
Amh	C	A	10: 80,642,487 (GRCm39)	Q257K	probably benign	Het
Antxrl	T	G	14: 33,787,806 (GRCm39)	H276Q	probably benign	Het
Atp5po	G	A	16: 91,723,755 (GRCm39)	T105M	probably damaging	Het
Atxn2	T	G	5: 121,923,880 (GRCm39)	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,903,102 (GRCm39)	V153D	probably benign	Het
Brd2	A	G	17: 34,332,796 (GRCm39)	V528A	probably damaging	Het
Camk2g	T	C	14: 20,797,907 (GRCm39)	S335G	probably benign	Het
Cbln2	T	A	18: 86,734,859 (GRCm39)	W211R	probably damaging	Het
Cry2	A	T	2: 92,243,326 (GRCm39)	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,698,784 (GRCm39)	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,808,997 (GRCm39)	T232A	probably damaging	Het
Dhx32	A	G	7: 133,361,206 (GRCm39)	Y76H	probably benign	Het
Dmac2l	T	C	12: 69,788,443 (GRCm39)	I114T	probably damaging	Het
Dock7	T	A	4: 98,861,649 (GRCm39)	N1356I	unknown	Het
Dock8	T	A	19: 25,104,449 (GRCm39)	N710K	probably benign	Het
Dync1i2	T	A	2: 71,079,700 (GRCm39)	N391K	possibly damaging	Het
Ect2	A	G	3: 27,192,684 (GRCm39)	S420P	probably damaging	Het
Efcab5	T	A	11: 77,028,605 (GRCm39)	E242V	probably damaging	Het
Fam83g	T	A	11: 61,575,579 (GRCm39)	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,738,329 (GRCm39)		probably null	Het
Flt4	A	G	11: 49,516,836 (GRCm39)	T208A	probably benign	Het
Fxyd5	T	A	7: 30,734,576 (GRCm39)	H183L	unknown	Het
Gpr150	T	G	13: 76,204,585 (GRCm39)	D120A	probably benign	Het
Grm7	A	G	6: 110,623,079 (GRCm39)	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,316,405 (GRCm39)	S562P	probably damaging	Het
Itga7	A	G	10: 128,780,282 (GRCm39)	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,337,535 (GRCm39)	D2448E	probably benign	Het
Mmp17	C	A	5: 129,672,697 (GRCm39)	H216Q	probably benign	Het
Mns1	C	T	9: 72,360,097 (GRCm39)	R416W	probably damaging	Het
Mog	A	G	17: 37,334,019 (GRCm39)	S25P	unknown	Het
Myh2	A	G	11: 67,071,976 (GRCm39)	K568R	possibly damaging	Het
Myh7	A	T	14: 55,209,947 (GRCm39)		probably null	Het
Mymk	A	T	2: 26,957,380 (GRCm39)	W79R	probably damaging	Het
Ncoa4	T	G	14: 31,899,326 (GRCm39)	L623R	probably damaging	Het
Oca2	G	A	7: 55,929,286 (GRCm39)		probably benign	Het
Odam	A	C	5: 88,035,404 (GRCm39)	S123R	probably benign	Het
Or14c39	T	A	7: 86,344,012 (GRCm39)	M116K	probably damaging	Het
Or2w1	A	G	13: 21,317,427 (GRCm39)	T161A	probably benign	Het
Or51f1d	T	C	7: 102,700,837 (GRCm39)	F111L	probably benign	Het
Or5d16	A	G	2: 87,773,915 (GRCm39)	F19S	probably damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or6c8b	C	T	10: 128,882,324 (GRCm39)	V203M	probably benign	Het
Ovch2	C	T	7: 107,393,640 (GRCm39)	C162Y	probably damaging	Het
Padi1	C	A	4: 140,556,782 (GRCm39)	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,820,451 (GRCm39)	I667V	probably damaging	Het
Pfas	A	T	11: 68,883,785 (GRCm39)	V624E	probably damaging	Het
Phb1	A	T	11: 95,568,917 (GRCm39)	E184V	probably damaging	Het
Phlpp2	G	T	8: 110,666,820 (GRCm39)	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,470,443 (GRCm39)		probably null	Het
Pitpnm2	T	A	5: 124,263,419 (GRCm39)	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,059,669 (GRCm39)	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,257,969 (GRCm39)		probably null	Het
Pole2	T	C	12: 69,249,684 (GRCm39)	D521G	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rapgef2	A	T	3: 78,989,934 (GRCm39)	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,248,924 (GRCm39)	Q206*	probably null	Het
Rnf123	T	A	9: 107,946,228 (GRCm39)	T316S	probably damaging	Het
Rnf138	T	A	18: 21,141,750 (GRCm39)		probably null	Het
Septin3	G	A	15: 82,173,414 (GRCm39)	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,812,669 (GRCm39)	D3V	unknown	Het
Sltm	T	A	9: 70,451,247 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,130,790 (GRCm39)	D91V	probably damaging	Het
Tirap	A	T	9: 35,100,330 (GRCm39)	V118E	probably damaging	Het
Tmcc1	A	G	6: 116,084,299 (GRCm39)	F5L	probably benign	Het
Tnxb	A	G	17: 34,935,475 (GRCm39)	M2592V	probably benign	Het
Trim66	T	A	7: 109,059,451 (GRCm39)	E931V	probably damaging	Het
Ttn	A	G	2: 76,571,438 (GRCm39)	I26485T	probably damaging	Het
Veph1	C	A	3: 66,065,703 (GRCm39)	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,006,750 (GRCm39)	H216L	probably damaging	Het
Wdr17	T	A	8: 55,085,522 (GRCm39)	E1200D	probably benign	Het
Zbtb37	T	A	1: 160,860,231 (GRCm39)	N25Y	probably damaging	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
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
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'- AAGTTCGGTGCTGCAACTG -3'
(R):5'- TGTGTGGCAAATGGACCAG -3'

Sequencing Primer
(F):5'- AACTGGACCTTTCGCACG -3'
(R):5'- TGGCAAATGGACCAGCTTATTGC -3'

Posted On

2019-06-26