Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Tlr2'

679306

Institutional Source

Beutler Lab

Gene Symbol

Tlr2

Ensembl Gene

ENSMUSG00000027995

Gene Name

toll-like receptor 2

Synonyms

Ly105

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8922 (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 83745075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 336 (E336V)

Ref Sequence

ENSEMBL: ENSMUSP00000029623 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029623
AA Change: E336V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: E336V

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	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
R8894:Tlr2	UTSW	3	83,744,091 (GRCm39)	missense	probably damaging	1.00
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'- CAGAGTCAGCAAAATCTCTCCTG -3'
(R):5'- AACTGTCGGAGGTAGAGTTCG -3'

Sequencing Primer
(F):5'- CTGGCTCAAAACTAAGGTTTGTAGAG -3'
(R):5'- TAGAGTTCGACGACTGTACCC -3'

Posted On

2021-08-02