Mutagenetix > Incidental Mutation

Incidental Mutation 'R7896:Tlr3'

609685

Institutional Source

Beutler Lab

Gene Symbol

Tlr3

Ensembl Gene

ENSMUSG00000031639

Gene Name

toll-like receptor 3

Synonyms

MMRRC Submission

045948-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45848702-45864112 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45850090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 860 (K860*)

Ref Sequence

ENSEMBL: ENSMUSP00000034056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034056] [ENSMUST00000167106] [ENSMUST00000209772] [ENSMUST00000210013]

AlphaFold

Q99MB1

PDB Structure

Crystal structure of mouse TLR3 ectodomain [X-RAY DIFFRACTION]
Mouse Toll-like receptor 3 ectodomain complexed with double-stranded RNA [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000034056
AA Change: K860*

SMART Domains

Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: K860*

Domain	Start	End	E-Value	Type
LRRNT	28	56	1.14e1	SMART
LRR	50	74	1.33e1	SMART
LRR_TYP	99	122	4.72e-2	SMART
LRR	123	146	2.47e2	SMART
LRR	171	194	3.36e1	SMART
LRR	198	220	7.57e0	SMART
low complexity region	224	238	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC
LRR	274	297	1.06e1	SMART
LRR_TYP	298	321	1.28e-3	SMART
LRR	355	378	6.23e1	SMART
LRR	379	404	3.18e2	SMART
LRR	405	430	8.98e1	SMART
LRR	431	455	6.78e1	SMART
LRR_TYP	506	529	1.79e-2	SMART
LRR	530	553	2.63e0	SMART
LRR_TYP	562	585	1.56e-2	SMART
LRR	586	609	1.37e1	SMART
LRR	611	633	8.48e0	SMART
LRRCT	646	698	1.07e-10	SMART
transmembrane domain	705	724	N/A	INTRINSIC
TIR	756	901	2.43e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167106
AA Change: K860*

SMART Domains

Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: K860*

Domain	Start	End	E-Value	Type
LRRNT	28	56	1.14e1	SMART
LRR	50	74	1.33e1	SMART
LRR_TYP	99	122	4.72e-2	SMART
LRR	123	146	2.47e2	SMART
LRR	171	194	3.36e1	SMART
LRR	198	220	7.57e0	SMART
low complexity region	224	238	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC
LRR	274	297	1.06e1	SMART
LRR_TYP	298	321	1.28e-3	SMART
LRR	355	378	6.23e1	SMART
LRR	379	404	3.18e2	SMART
LRR	405	430	8.98e1	SMART
LRR	431	455	6.78e1	SMART
LRR_TYP	506	529	1.79e-2	SMART
LRR	530	553	2.63e0	SMART
LRR_TYP	562	585	1.56e-2	SMART
LRR	586	609	1.37e1	SMART
LRR	611	633	8.48e0	SMART
LRRCT	646	698	1.07e-10	SMART
transmembrane domain	705	724	N/A	INTRINSIC
TIR	756	901	2.43e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000209772
AA Change: K860*

Predicted Effect

probably benign
Transcript: ENSMUST00000210013

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (82/83)

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. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show alterations in innate immunity against different viruses, viral pathogenesis, anxiety, hippocampal synaptic plasticity, memory retention and neurogenesis. Homozygotes for another null allele show altered ds-RNA responses in dendritic and aorta smooth muscle cells. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(6)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,840,792 (GRCm39)	T894A	probably damaging	Het
Abcc10	T	A	17: 46,635,235 (GRCm39)	H256L	probably benign	Het
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Actn2	G	A	13: 12,309,203 (GRCm39)	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,751,652 (GRCm39)	D161E	probably benign	Het
Adam19	T	A	11: 46,028,370 (GRCm39)	C668S	probably damaging	Het
Alg8	T	C	7: 97,040,123 (GRCm39)	L435S	probably damaging	Het
Amz2	G	A	11: 109,327,413 (GRCm39)	E322K	possibly damaging	Het
Ankrd12	T	A	17: 66,292,680 (GRCm39)	R918*	probably null	Het
Atp5pb	A	G	3: 105,863,259 (GRCm39)	I59T	probably damaging	Het
Bach1	T	A	16: 87,515,893 (GRCm39)	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,117,848 (GRCm39)	S309*	probably null	Het
Birc6	G	T	17: 74,929,077 (GRCm39)	R2323L	probably damaging	Het
Catspere2	A	T	1: 177,938,740 (GRCm39)	M538L	probably benign	Het
Ccdc154	A	T	17: 25,390,800 (GRCm39)	M647L	probably benign	Het
Cdc14a	T	C	3: 116,088,482 (GRCm39)	T447A	probably benign	Het
Chst9	C	T	18: 15,585,846 (GRCm39)	R239H	probably damaging	Het
Cs	C	T	10: 128,189,004 (GRCm39)	A171V	probably damaging	Het
D3Ertd751e	T	A	3: 41,710,508 (GRCm39)	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,088,385 (GRCm39)	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,520,619 (GRCm39)	Q486*	probably null	Het
Dolk	A	T	2: 30,175,961 (GRCm39)	V28E	possibly damaging	Het
Dpf2	C	T	19: 5,954,333 (GRCm39)	S191N	probably benign	Het
Eml3	T	A	19: 8,911,171 (GRCm39)	F267I	possibly damaging	Het
Entrep2	T	C	7: 64,426,557 (GRCm39)	H232R	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Foxo3	T	C	10: 42,073,732 (GRCm39)	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,975,742 (GRCm39)		probably null	Het
Gm49380	G	A	9: 44,024,096 (GRCm39)	L51F	probably damaging	Het
Gm9195	A	T	14: 72,693,178 (GRCm39)	H1582Q	unknown	Het
Grip1	A	G	10: 119,814,450 (GRCm39)	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,619,976 (GRCm39)	F207S	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kif16b	A	G	2: 142,675,995 (GRCm39)		probably null	Het
Kif5a	A	G	10: 127,077,873 (GRCm39)	V407A	probably benign	Het
Lrrc57	C	A	2: 120,438,372 (GRCm39)	D134Y	probably damaging	Het
Map1a	A	G	2: 121,135,657 (GRCm39)	T2158A	probably benign	Het
Mink1	A	G	11: 70,503,108 (GRCm39)	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,978 (GRCm39)	I295F	probably damaging	Het
Muc21	G	A	17: 35,930,917 (GRCm39)	P1090S	unknown	Het
Mup18	G	T	4: 61,590,925 (GRCm39)		probably null	Het
Myo1h	G	T	5: 114,474,372 (GRCm39)		probably null	Het
Nap1l5	C	T	6: 58,883,505 (GRCm39)	G52S	probably damaging	Het
Npr3	A	G	15: 11,883,448 (GRCm39)	F327S	probably damaging	Het
Nrxn2	C	A	19: 6,582,083 (GRCm39)	Q1673K	possibly damaging	Het
Or13a20	G	T	7: 140,232,814 (GRCm39)	L307F	probably benign	Het
Or2r3	T	A	6: 42,449,100 (GRCm39)	D4V	probably benign	Het
Paf1	T	C	7: 28,096,072 (GRCm39)	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,496,776 (GRCm39)	I251T	probably damaging	Het
Pde9a	C	T	17: 31,678,941 (GRCm39)	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,177,811 (GRCm39)	D332G	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,474,923 (GRCm39)		probably null	Het
Pprc1	T	C	19: 46,049,888 (GRCm39)	L67P	unknown	Het
Prkdc	T	G	16: 15,526,767 (GRCm39)	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,962,070 (GRCm39)	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,205,362 (GRCm39)		probably null	Het
R3hdm1	T	A	1: 128,096,703 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,744,663 (GRCm39)	V1276A	probably benign	Het
Rapsn	T	C	2: 90,875,300 (GRCm39)	L361P	probably benign	Het
Rbm22	G	T	18: 60,702,505 (GRCm39)	A275S	probably benign	Het
Rsph3a	A	G	17: 8,164,940 (GRCm39)	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,651,274 (GRCm39)	M13L	unknown	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Setd7	C	A	3: 51,444,077 (GRCm39)		probably null	Het
Slc38a2	A	G	15: 96,591,466 (GRCm39)	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,307,278 (GRCm39)	F321L	probably benign	Het
Sppl2c	A	G	11: 104,077,956 (GRCm39)	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,082,397 (GRCm39)	T117A	probably damaging	Het
Szt2	A	T	4: 118,260,110 (GRCm39)	F79I	possibly damaging	Het
Ttn	T	C	2: 76,625,018 (GRCm39)	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Unc5c	A	T	3: 141,476,922 (GRCm39)	T363S	possibly damaging	Het
Usp40	G	A	1: 87,906,201 (GRCm39)	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,678,609 (GRCm39)	T97S	probably damaging	Het
Vmn1r85	T	A	7: 12,818,448 (GRCm39)	H232L	probably benign	Het
Vmn2r67	A	G	7: 84,785,920 (GRCm39)	I695T	probably damaging	Het
Zfp383	C	A	7: 29,611,626 (GRCm39)	D35E	probably damaging	Het
Zfp65	A	T	13: 67,877,174 (GRCm39)		probably null	Het
Zfp692	A	G	11: 58,205,062 (GRCm39)	K437R	probably damaging	Het
Zfp831	A	T	2: 174,488,921 (GRCm39)	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,463 (GRCm39)	I338N	probably damaging	Het

Other mutations in Tlr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Tlr3	APN	8	45,853,727 (GRCm39)	missense	probably damaging	0.99
IGL01820:Tlr3	APN	8	45,851,376 (GRCm39)	missense	probably benign
IGL02504:Tlr3	APN	8	45,850,944 (GRCm39)	missense	probably damaging	1.00
IGL02523:Tlr3	APN	8	45,851,428 (GRCm39)	splice site	probably null
IGL03166:Tlr3	APN	8	45,855,965 (GRCm39)	missense	probably benign	0.05
IGL03287:Tlr3	APN	8	45,855,817 (GRCm39)	missense	probably benign
Rakshasa	UTSW	8	45,850,734 (GRCm39)	missense	probably benign	0.08
Ultraman	UTSW	8	45,856,018 (GRCm39)	missense	probably damaging	1.00
E0354:Tlr3	UTSW	8	45,853,857 (GRCm39)	missense	probably damaging	1.00
R0960:Tlr3	UTSW	8	45,850,452 (GRCm39)	missense	probably damaging	1.00
R1175:Tlr3	UTSW	8	45,850,171 (GRCm39)	missense	probably damaging	1.00
R1332:Tlr3	UTSW	8	45,851,774 (GRCm39)	missense	probably damaging	0.99
R1477:Tlr3	UTSW	8	45,851,202 (GRCm39)	missense	probably damaging	1.00
R1667:Tlr3	UTSW	8	45,853,874 (GRCm39)	missense	probably benign	0.00
R1755:Tlr3	UTSW	8	45,851,010 (GRCm39)	missense	probably benign
R1996:Tlr3	UTSW	8	45,850,734 (GRCm39)	missense	probably benign	0.08
R2012:Tlr3	UTSW	8	45,855,823 (GRCm39)	missense	possibly damaging	0.91
R2288:Tlr3	UTSW	8	45,850,705 (GRCm39)	missense	probably damaging	0.98
R2895:Tlr3	UTSW	8	45,850,629 (GRCm39)	missense	possibly damaging	0.89
R3837:Tlr3	UTSW	8	45,849,976 (GRCm39)	missense	probably damaging	1.00
R4905:Tlr3	UTSW	8	45,852,260 (GRCm39)	critical splice acceptor site	probably null
R4934:Tlr3	UTSW	8	45,850,072 (GRCm39)	missense	probably benign	0.10
R5025:Tlr3	UTSW	8	45,856,075 (GRCm39)	missense	probably benign	0.00
R5086:Tlr3	UTSW	8	45,855,862 (GRCm39)	missense	probably damaging	0.96
R5129:Tlr3	UTSW	8	45,856,018 (GRCm39)	missense	probably damaging	1.00
R5320:Tlr3	UTSW	8	45,852,137 (GRCm39)	missense	possibly damaging	0.95
R5411:Tlr3	UTSW	8	45,849,992 (GRCm39)	missense	probably benign	0.01
R5497:Tlr3	UTSW	8	45,851,851 (GRCm39)	missense	possibly damaging	0.60
R5498:Tlr3	UTSW	8	45,851,851 (GRCm39)	missense	possibly damaging	0.60
R5499:Tlr3	UTSW	8	45,851,851 (GRCm39)	missense	possibly damaging	0.60
R5501:Tlr3	UTSW	8	45,851,851 (GRCm39)	missense	possibly damaging	0.60
R5731:Tlr3	UTSW	8	45,851,157 (GRCm39)	missense	probably benign	0.00
R5761:Tlr3	UTSW	8	45,855,808 (GRCm39)	missense	probably benign	0.00
R5992:Tlr3	UTSW	8	45,850,851 (GRCm39)	missense	probably benign
R6031:Tlr3	UTSW	8	45,851,565 (GRCm39)	missense	probably damaging	1.00
R6031:Tlr3	UTSW	8	45,851,565 (GRCm39)	missense	probably damaging	1.00
R6104:Tlr3	UTSW	8	45,856,130 (GRCm39)	missense	probably benign	0.00
R6289:Tlr3	UTSW	8	45,849,966 (GRCm39)	missense	probably benign	0.04
R6372:Tlr3	UTSW	8	45,850,048 (GRCm39)	missense	probably damaging	1.00
R6470:Tlr3	UTSW	8	45,850,422 (GRCm39)	missense	probably damaging	1.00
R6486:Tlr3	UTSW	8	45,851,650 (GRCm39)	splice site	probably null
R6504:Tlr3	UTSW	8	45,850,486 (GRCm39)	missense	possibly damaging	0.79
R6721:Tlr3	UTSW	8	45,851,917 (GRCm39)	missense	probably benign	0.00
R7089:Tlr3	UTSW	8	45,850,810 (GRCm39)	missense	probably benign	0.02
R7169:Tlr3	UTSW	8	45,850,056 (GRCm39)	missense	probably damaging	1.00
R7679:Tlr3	UTSW	8	45,852,088 (GRCm39)	missense	probably benign
R7771:Tlr3	UTSW	8	45,856,076 (GRCm39)	missense	probably benign
R7863:Tlr3	UTSW	8	45,850,774 (GRCm39)	missense	probably benign	0.00
R8009:Tlr3	UTSW	8	45,853,819 (GRCm39)	missense	not run
R8219:Tlr3	UTSW	8	45,851,016 (GRCm39)	missense	possibly damaging	0.95
R8397:Tlr3	UTSW	8	45,851,896 (GRCm39)	missense	possibly damaging	0.94
R8411:Tlr3	UTSW	8	45,849,978 (GRCm39)	missense	probably damaging	1.00
R8539:Tlr3	UTSW	8	45,851,553 (GRCm39)	missense	probably damaging	1.00
R8786:Tlr3	UTSW	8	45,851,286 (GRCm39)	missense	possibly damaging	0.94
R8916:Tlr3	UTSW	8	45,856,076 (GRCm39)	missense	probably benign
R9282:Tlr3	UTSW	8	45,851,643 (GRCm39)	missense	probably benign	0.12
R9609:Tlr3	UTSW	8	45,850,117 (GRCm39)	missense	probably benign	0.02
R9731:Tlr3	UTSW	8	45,850,944 (GRCm39)	missense	probably damaging	1.00
Z1177:Tlr3	UTSW	8	45,851,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTGGATCTATCCCTTTACCGAC -3'
(R):5'- AAAGACCCTCTGTGCAGAAG -3'

Sequencing Primer
(F):5'- TTACCGACTCCAAATCTTCAAATGAG -3'
(R):5'- CCCTCTGTGCAGAAGGTAGGTG -3'

Posted On

2019-12-20