Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00162:Tlr3'

1402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlr3

Ensembl Gene

ENSMUSG00000031639

Gene Name

toll-like receptor 3

Synonyms

Accession Numbers

Ncbi RefSeq: NM_126166; MGI: 2156367

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

45395665-45411080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45400690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 198 (S198P)

Ref Sequence

ENSEMBL: ENSMUSP00000147738 (fasta)

Gene Model

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

AlphaFold

Q99MB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034056
AA Change: S198P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: S198P

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 damaging
Transcript: ENSMUST00000167106
AA Change: S198P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: S198P

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 damaging
Transcript: ENSMUST00000209772
AA Change: S198P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000210013

Predicted Effect

probably benign
Transcript: ENSMUST00000210996

Predicted Effect

probably benign
Transcript: ENSMUST00000211370

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C330021F23Rik	A	G	8: 3,583,904	T2A	probably benign	Het
Cc2d1b	T	G	4: 108,627,378	L470R	probably damaging	Het
Cd96	A	T	16: 46,071,799	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,860,958		probably null	Het
Cyb561	T	C	11: 105,935,836	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,516,085	S22P	probably benign	Het
Dnajc6	A	G	4: 101,508,089		probably benign	Het
Fgf6	A	T	6: 127,024,085	K185N	possibly damaging	Het
Fshr	T	C	17: 88,986,191	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,048,443	Y103*	probably null	Het
Gm7247	G	A	14: 51,523,505	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,935,781	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,634,547	E368G	probably benign	Het
Kdm3b	A	G	18: 34,809,409	E851G	probably benign	Het
Kif3b	A	G	2: 153,317,131	D284G	probably damaging	Het
Kyat3	G	A	3: 142,734,474	A320T	probably benign	Het
Mok	C	T	12: 110,808,197		probably benign	Het
Mrgpra3	A	G	7: 47,589,519	F220L	probably benign	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr1124	A	G	2: 87,435,063	H192R	probably benign	Het
Olfr703	A	G	7: 106,845,367	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,260,121		probably null	Het
Plekhn1	T	G	4: 156,223,363	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,029,850	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,137,682	*516R	probably null	Het
Senp6	A	G	9: 80,116,610	D385G	probably damaging	Het
Siglech	T	C	7: 55,772,591		probably benign	Het
Slit1	A	G	19: 41,650,835	L212P	probably damaging	Het
Smchd1	T	A	17: 71,465,673		probably benign	Het
Snapc4	A	T	2: 26,369,312	C609S	probably benign	Het
Strn3	T	C	12: 51,661,196	T139A	possibly damaging	Het
Tcaf3	T	C	6: 42,593,385	T478A	probably benign	Het
Ttn	C	T	2: 76,890,479		probably benign	Het
Vil1	G	A	1: 74,423,875	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483		probably null	Het
Zfyve9	A	G	4: 108,642,107	V1338A	possibly damaging	Het

Other mutations in Tlr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01820:Tlr3	APN	8	45398339	missense	probably benign
IGL02504:Tlr3	APN	8	45397907	missense	probably damaging	1.00
IGL02523:Tlr3	APN	8	45398391	splice site	probably null
IGL03166:Tlr3	APN	8	45402928	missense	probably benign	0.05
IGL03287:Tlr3	APN	8	45402780	missense	probably benign
Rakshasa	UTSW	8	45397697	missense	probably benign	0.08
Ultraman	UTSW	8	45402981	missense	probably damaging	1.00
E0354:Tlr3	UTSW	8	45400820	missense	probably damaging	1.00
R0960:Tlr3	UTSW	8	45397415	missense	probably damaging	1.00
R1175:Tlr3	UTSW	8	45397134	missense	probably damaging	1.00
R1332:Tlr3	UTSW	8	45398737	missense	probably damaging	0.99
R1477:Tlr3	UTSW	8	45398165	missense	probably damaging	1.00
R1667:Tlr3	UTSW	8	45400837	missense	probably benign	0.00
R1755:Tlr3	UTSW	8	45397973	missense	probably benign
R1996:Tlr3	UTSW	8	45397697	missense	probably benign	0.08
R2012:Tlr3	UTSW	8	45402786	missense	possibly damaging	0.91
R2288:Tlr3	UTSW	8	45397668	missense	probably damaging	0.98
R2895:Tlr3	UTSW	8	45397592	missense	possibly damaging	0.89
R3837:Tlr3	UTSW	8	45396939	missense	probably damaging	1.00
R4905:Tlr3	UTSW	8	45399223	critical splice acceptor site	probably null
R4934:Tlr3	UTSW	8	45397035	missense	probably benign	0.10
R5025:Tlr3	UTSW	8	45403038	missense	probably benign	0.00
R5086:Tlr3	UTSW	8	45402825	missense	probably damaging	0.96
R5129:Tlr3	UTSW	8	45402981	missense	probably damaging	1.00
R5320:Tlr3	UTSW	8	45399100	missense	possibly damaging	0.95
R5411:Tlr3	UTSW	8	45396955	missense	probably benign	0.01
R5497:Tlr3	UTSW	8	45398814	missense	possibly damaging	0.60
R5498:Tlr3	UTSW	8	45398814	missense	possibly damaging	0.60
R5499:Tlr3	UTSW	8	45398814	missense	possibly damaging	0.60
R5501:Tlr3	UTSW	8	45398814	missense	possibly damaging	0.60
R5731:Tlr3	UTSW	8	45398120	missense	probably benign	0.00
R5761:Tlr3	UTSW	8	45402771	missense	probably benign	0.00
R5992:Tlr3	UTSW	8	45397814	missense	probably benign
R6031:Tlr3	UTSW	8	45398528	missense	probably damaging	1.00
R6031:Tlr3	UTSW	8	45398528	missense	probably damaging	1.00
R6104:Tlr3	UTSW	8	45403093	missense	probably benign	0.00
R6289:Tlr3	UTSW	8	45396929	missense	probably benign	0.04
R6372:Tlr3	UTSW	8	45397011	missense	probably damaging	1.00
R6470:Tlr3	UTSW	8	45397385	missense	probably damaging	1.00
R6486:Tlr3	UTSW	8	45398613	splice site	probably null
R6504:Tlr3	UTSW	8	45397449	missense	possibly damaging	0.79
R6721:Tlr3	UTSW	8	45398880	missense	probably benign	0.00
R7089:Tlr3	UTSW	8	45397773	missense	probably benign	0.02
R7169:Tlr3	UTSW	8	45397019	missense	probably damaging	1.00
R7679:Tlr3	UTSW	8	45399051	missense	probably benign
R7771:Tlr3	UTSW	8	45403039	missense	probably benign
R7863:Tlr3	UTSW	8	45397737	missense	probably benign	0.00
R7896:Tlr3	UTSW	8	45397053	nonsense	probably null
R8009:Tlr3	UTSW	8	45400782	missense	not run
R8219:Tlr3	UTSW	8	45397979	missense	possibly damaging	0.95
R8397:Tlr3	UTSW	8	45398859	missense	possibly damaging	0.94
R8411:Tlr3	UTSW	8	45396941	missense	probably damaging	1.00
R8539:Tlr3	UTSW	8	45398516	missense	probably damaging	1.00
R8786:Tlr3	UTSW	8	45398249	missense	possibly damaging	0.94
R8916:Tlr3	UTSW	8	45403039	missense	probably benign
R9282:Tlr3	UTSW	8	45398606	missense	probably benign	0.12
R9609:Tlr3	UTSW	8	45397080	missense	probably benign	0.02
R9731:Tlr3	UTSW	8	45397907	missense	probably damaging	1.00
Z1177:Tlr3	UTSW	8	45397983	missense	probably damaging	1.00

Posted On

2011-07-12