Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Tlr2'

546363

Institutional Source

Beutler Lab

Gene Symbol

Tlr2

Ensembl Gene

ENSMUSG00000027995

Gene Name

toll-like receptor 2

Synonyms

Ly105

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83743579-83749045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83745212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 290 (N290K)

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: N290K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: N290K

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

100% (67/67)

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
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	probably 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
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
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'- ATCAGATTTTCGCTGAGGTCTAAG -3'
(R):5'- GGCCAGGTTCCAGTTTTCAC -3'

Sequencing Primer
(F):5'- CGCTGAGGTCTAAGAATTCTAATG -3'
(R):5'- TTTCACCACTGCCCGTAGATGAAG -3'

Posted On

2019-05-13