Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Tlr2'

677867

Institutional Source

Beutler Lab

Gene Symbol

Tlr2

Ensembl Gene

ENSMUSG00000027995

Gene Name

toll-like receptor 2

Synonyms

Ly105

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8894 (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 83744091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 664 (E664V)

Ref Sequence

ENSEMBL: ENSMUSP00000029623 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029623
AA Change: E664V

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

SMART Domains

Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: E664V

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

Meta Mutation Damage Score

0.7221

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly damaging	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
R7256:Tlr2	UTSW	3	83,744,913 (GRCm39)	missense	possibly damaging	0.93
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
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'- GAGAAGTCCAGTTCGTACTTGC -3'
(R):5'- AATGTCACCAGGCTGCACTG -3'

Sequencing Primer
(F):5'- AGTCCAGTTCGTACTTGCACCAC -3'
(R):5'- GATCTTGCTCGTAGGTGCCC -3'

Posted On

2021-08-02