Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Tlr3'

378106

Institutional Source

Beutler Lab

Gene Symbol

Tlr3

Ensembl Gene

ENSMUSG00000031639

Gene Name

toll-like receptor 3

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45848702-45864112 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to A at 45852260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034056] [ENSMUST00000034056] [ENSMUST00000167106] [ENSMUST00000167106] [ENSMUST00000209651] [ENSMUST00000209772] [ENSMUST00000209772] [ENSMUST00000210013] [ENSMUST00000210996] [ENSMUST00000211370]

AlphaFold

Q99MB1

Predicted Effect

probably null
Transcript: ENSMUST00000034056

SMART Domains

Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639

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: ENSMUST00000034056

SMART Domains

Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639

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

SMART Domains

Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639

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

SMART Domains

Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639

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 benign
Transcript: ENSMUST00000209651

Predicted Effect

probably null
Transcript: ENSMUST00000209772

Predicted Effect

probably null
Transcript: ENSMUST00000209772

Predicted Effect

probably benign
Transcript: ENSMUST00000210013

Predicted Effect

probably benign
Transcript: ENSMUST00000210996

Predicted Effect

probably benign
Transcript: ENSMUST00000211370

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly 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
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
R7896:Tlr3	UTSW	8	45,850,090 (GRCm39)	nonsense	probably null
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'- CACTTCAGCCCAGAGAAAGTG -3'
(R):5'- GCTTTAGGCAAAATGCTGGGAG -3'

Sequencing Primer
(F):5'- CAGAGAAAGTGCTCTCGCTG -3'
(R):5'- GAGACATTACTTTACCTGGAAGGCC -3'

Posted On

2016-04-15