Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Tlr2'

564252

Institutional Source

Beutler Lab

Gene Symbol

Tlr2

Ensembl Gene

ENSMUSG00000027995

Gene Name

toll-like receptor 2

Synonyms

Ly105

MMRRC Submission

045317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83743579-83749045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83744913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 390 (Q390L)

Ref Sequence

ENSEMBL: ENSMUSP00000029623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029623]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029623
AA Change: Q390L

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: Q390L

Domain	Start	End	E-Value	Type
LRR	51	74	1.45e2	SMART
LRR	75	98	2.33e2	SMART
LRR_TYP	99	122	3.69e-4	SMART
low complexity region	268	281	N/A	INTRINSIC
LRR	359	384	6.78e1	SMART
LRR	386	409	2.54e2	SMART
LRR	412	435	8.49e1	SMART
LRR_TYP	476	499	3.34e-2	SMART
LRRCT	533	586	5.04e-7	SMART
transmembrane domain	588	610	N/A	INTRINSIC
TIR	640	784	5.08e-38	SMART

Coding Region Coverage

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

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice demonstrate abnormal responses to bacterial and viral infections. Mice homozygous for a knock-out allele also exhibit disruption in circadian active and inactive state consolidation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,659,923 (GRCm39)	Y790H	probably damaging	Het
Bend3	A	C	10: 43,369,667 (GRCm39)	S7R	probably benign	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,431,997 (GRCm39)	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,288,851 (GRCm39)	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,490 (GRCm39)	S1406P	probably benign	Het
Cep290	A	G	10: 100,382,360 (GRCm39)	T208A	probably damaging	Het
Cep85l	A	C	10: 53,172,351 (GRCm39)	C569W	probably damaging	Het
Ces5a	G	A	8: 94,226,154 (GRCm39)	T527I	probably benign	Het
Clca3a2	T	A	3: 144,796,608 (GRCm39)	I200F	probably damaging	Het
Cmas	G	A	6: 142,716,312 (GRCm39)	D251N	probably damaging	Het
Ctcfl	G	T	2: 172,960,268 (GRCm39)	A105E	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dctn6	A	T	8: 34,557,962 (GRCm39)	I170N	probably damaging	Het
Dnah2	T	C	11: 69,321,920 (GRCm39)	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,724,988 (GRCm39)	V465I	possibly damaging	Het
Dzip1	T	C	14: 119,123,058 (GRCm39)	T646A	probably benign	Het
Etv4	T	A	11: 101,675,151 (GRCm39)		probably null	Het
Exoc3l2	T	C	7: 19,218,628 (GRCm39)	V549A	unknown	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
Fry	T	G	5: 150,390,251 (GRCm39)	I179S		Het
Galntl5	A	G	5: 25,400,298 (GRCm39)	H109R	probably benign	Het
Garem1	C	A	18: 21,281,811 (GRCm39)	G182W	probably damaging	Het
Gm5916	A	T	9: 36,032,285 (GRCm39)	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,615,709 (GRCm39)	F271I	probably benign	Het
Hivep2	G	T	10: 14,004,845 (GRCm39)	S481I	probably benign	Het
Homez	T	A	14: 55,094,877 (GRCm39)	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,210,722 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,678,957 (GRCm39)	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,617,212 (GRCm39)		probably null	Het
Kif5b	A	G	18: 6,225,340 (GRCm39)	V230A	probably damaging	Het
Ldlr	T	A	9: 21,657,040 (GRCm39)	V719E	probably benign	Het
Lsm7	G	A	10: 80,689,565 (GRCm39)	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,710,988 (GRCm39)	D90E	probably benign	Het
Mmrn1	A	G	6: 60,953,098 (GRCm39)	K460E	probably damaging	Het
Myh10	A	C	11: 68,681,515 (GRCm39)	N1061H	probably damaging	Het
Nepn	A	G	10: 52,277,089 (GRCm39)	Q275R	probably benign	Het
Noc3l	A	T	19: 38,800,800 (GRCm39)	D227E	probably benign	Het
Nploc4	G	T	11: 120,319,376 (GRCm39)	S61R	probably benign	Het
Nr4a2	T	C	2: 57,002,381 (GRCm39)	Y24C	probably damaging	Het
Nup160	T	A	2: 90,553,699 (GRCm39)	I1143N	probably damaging	Het
Or14a256	G	T	7: 86,264,873 (GRCm39)	H327N	probably benign	Het
Or4a15	A	T	2: 89,192,838 (GRCm39)	Y312N	probably benign	Het
Or8c17	T	A	9: 38,180,004 (GRCm39)	M57K	probably damaging	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap1	A	T	1: 54,532,366 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,633 (GRCm39)	H229R	probably damaging	Het
Plcl1	A	G	1: 55,737,377 (GRCm39)	Q906R	probably benign	Het
Ppfia3	T	C	7: 44,991,167 (GRCm39)	N1018S	probably benign	Het
Pramel24	T	A	4: 143,452,849 (GRCm39)	D93E	probably benign	Het
Prkd1	A	G	12: 50,435,125 (GRCm39)	V534A	possibly damaging	Het
Pygm	A	T	19: 6,435,926 (GRCm39)	I126F	probably benign	Het
Rag1	T	C	2: 101,472,415 (GRCm39)	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 92,032,637 (GRCm39)	Q560*	probably null	Het
Rbp3	A	T	14: 33,684,540 (GRCm39)	I1190F	possibly damaging	Het
Reln	T	C	5: 22,183,921 (GRCm39)	K1693E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsph3a	A	G	17: 8,165,002 (GRCm39)	T121A	probably benign	Het
Rufy3	A	G	5: 88,762,806 (GRCm39)	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,502,591 (GRCm39)	Q3548*	probably null	Het
Sardh	A	T	2: 27,108,824 (GRCm39)	V637D	probably benign	Het
Spata16	T	C	3: 26,722,016 (GRCm39)	V179A	probably benign	Het
Spopfm2	T	C	3: 94,083,667 (GRCm39)	E48G	probably benign	Het
Tbc1d30	G	A	10: 121,124,870 (GRCm39)	T319I	probably damaging	Het
Tmem53	C	T	4: 117,109,237 (GRCm39)		probably null	Het
Vmn1r113	T	A	7: 20,521,370 (GRCm39)	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,434,036 (GRCm39)	Y210S	probably damaging	Het
Zbbx	A	T	3: 74,947,205 (GRCm39)	H670Q	probably benign	Het

Other mutations in Tlr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01762:Tlr2	APN	3	83,744,301 (GRCm39)	missense	probably benign
IGL02160:Tlr2	APN	3	83,744,678 (GRCm39)	missense	possibly damaging	0.47
IGL02405:Tlr2	APN	3	83,743,981 (GRCm39)	missense	probably damaging	1.00
IGL02940:Tlr2	APN	3	83,743,781 (GRCm39)	missense	probably benign	0.03
IGL03165:Tlr2	APN	3	83,745,255 (GRCm39)	missense	probably benign	0.00
languid	UTSW	3	83,744,622 (GRCm39)	missense	probably damaging	1.00
G1patch:Tlr2	UTSW	3	83,745,603 (GRCm39)	missense	probably benign
PIT4131001:Tlr2	UTSW	3	83,745,756 (GRCm39)	missense	probably benign	0.34
R1177:Tlr2	UTSW	3	83,746,041 (GRCm39)	missense	probably benign	0.02
R1251:Tlr2	UTSW	3	83,745,576 (GRCm39)	missense	possibly damaging	0.64
R1346:Tlr2	UTSW	3	83,743,900 (GRCm39)	missense	probably damaging	0.99
R1553:Tlr2	UTSW	3	83,744,770 (GRCm39)	missense	probably benign
R1613:Tlr2	UTSW	3	83,744,660 (GRCm39)	missense	probably damaging	1.00
R1816:Tlr2	UTSW	3	83,745,516 (GRCm39)	missense	probably damaging	1.00
R2312:Tlr2	UTSW	3	83,744,847 (GRCm39)	missense	probably damaging	1.00
R3023:Tlr2	UTSW	3	83,745,178 (GRCm39)	missense	probably benign
R4724:Tlr2	UTSW	3	83,745,492 (GRCm39)	missense	probably damaging	1.00
R4950:Tlr2	UTSW	3	83,744,639 (GRCm39)	missense	probably damaging	1.00
R5109:Tlr2	UTSW	3	83,745,030 (GRCm39)	missense	probably damaging	1.00
R5764:Tlr2	UTSW	3	83,745,819 (GRCm39)	missense	probably damaging	1.00
R5859:Tlr2	UTSW	3	83,743,810 (GRCm39)	missense	possibly damaging	0.94
R6169:Tlr2	UTSW	3	83,745,455 (GRCm39)	missense	probably benign
R6236:Tlr2	UTSW	3	83,745,438 (GRCm39)	missense	probably benign
R6384:Tlr2	UTSW	3	83,744,301 (GRCm39)	missense	probably benign
R6564:Tlr2	UTSW	3	83,745,002 (GRCm39)	missense	probably benign	0.05
R6725:Tlr2	UTSW	3	83,745,603 (GRCm39)	missense	probably benign
R7032:Tlr2	UTSW	3	83,745,212 (GRCm39)	missense	probably benign	0.01
R7571:Tlr2	UTSW	3	83,743,849 (GRCm39)	missense	probably damaging	1.00
R7970:Tlr2	UTSW	3	83,745,201 (GRCm39)	missense	probably benign	0.01
R8191:Tlr2	UTSW	3	83,743,822 (GRCm39)	missense	probably damaging	0.99
R8191:Tlr2	UTSW	3	83,743,821 (GRCm39)	missense	probably damaging	1.00
R8217:Tlr2	UTSW	3	83,745,373 (GRCm39)	missense	probably benign	0.17
R8218:Tlr2	UTSW	3	83,745,546 (GRCm39)	missense	probably damaging	1.00
R8834:Tlr2	UTSW	3	83,746,020 (GRCm39)	missense	probably benign
R8894:Tlr2	UTSW	3	83,744,091 (GRCm39)	missense	probably damaging	1.00
R8922:Tlr2	UTSW	3	83,745,075 (GRCm39)	missense	probably benign	0.02
R9417:Tlr2	UTSW	3	83,744,892 (GRCm39)	missense	probably damaging	1.00
R9447:Tlr2	UTSW	3	83,748,445 (GRCm39)	critical splice acceptor site	probably null
R9648:Tlr2	UTSW	3	83,745,840 (GRCm39)	missense	probably damaging	1.00
Z1177:Tlr2	UTSW	3	83,743,914 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGTACTGGACAAATTCAGG -3'
(R):5'- TTTCAACCCCTCGGAGTCAG -3'

Sequencing Primer
(F):5'- CAGGAAGCGCATCTTTTCTGGC -3'
(R):5'- ACTGTCTATTCCCTCCTGGAGAAGG -3'

Posted On

2019-06-26