Incidental Mutation 'R1175:Tlr3'
ID99960
Institutional Source Beutler Lab
Gene Symbol Tlr3
Ensembl Gene ENSMUSG00000031639
Gene Nametoll-like receptor 3
Synonyms
MMRRC Submission 039248-MU
Accession Numbers

Ncbi RefSeq: NM_126166; MGI: 2156367

Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #R1175 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location45395665-45411080 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45397134 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 833 (V833L)
Ref Sequence ENSEMBL: ENSMUSP00000147738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034056] [ENSMUST00000167106] [ENSMUST00000209772] [ENSMUST00000210013]
Predicted Effect probably damaging
Transcript: ENSMUST00000034056
AA Change: V833L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: V833L

DomainStartEndE-ValueType
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: V833L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: V833L

DomainStartEndE-ValueType
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: ENSMUST00000209772
AA Change: V833L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210013
Meta Mutation Damage Score 0.1903 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 17,117,582 H214L probably benign Het
3110043O21Rik C A 4: 35,218,630 E76D probably damaging Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
A430078G23Rik T A 8: 3,389,023 probably benign Het
Abca17 T C 17: 24,289,351 E1070G possibly damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Akp3 G A 1: 87,127,871 G547R unknown Het
Anapc1 C A 2: 128,680,188 C150F probably damaging Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cntnap5c C A 17: 58,364,246 T1143K possibly damaging Het
Col7a1 A C 9: 108,955,334 T137P unknown Het
Defb8 C T 8: 19,445,894 G50E probably damaging Het
Dimt1 T A 13: 106,949,685 probably benign Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eci2 G T 13: 34,993,104 N24K probably damaging Het
Fbn1 A T 2: 125,394,687 C358S probably benign Het
Fbxl13 A T 5: 21,620,604 probably benign Het
Fbxw11 T C 11: 32,711,922 C121R probably damaging Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gab1 C A 8: 80,784,842 R458L probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Itpkc T C 7: 27,227,770 I240V probably benign Het
Jakmip3 A G 7: 139,027,786 D552G probably damaging Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kdm3a T C 6: 71,600,027 E768G possibly damaging Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mast1 T C 8: 84,925,327 E342G probably benign Het
Mgat5b T C 11: 116,977,796 L515P probably damaging Het
Mink1 A G 11: 70,611,340 D985G probably benign Het
Mphosph9 A G 5: 124,315,676 V191A possibly damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Papd5 T A 8: 88,252,007 F445L probably damaging Het
Pcnt A T 10: 76,393,044 probably null Het
Psmd8 A T 7: 29,176,173 Y174N probably damaging Het
Ptgdr2 C A 19: 10,940,928 R270S possibly damaging Het
Rasal2 A G 1: 157,147,648 M1172T probably damaging Het
Rif1 A G 2: 52,107,628 probably benign Het
Rnf123 C T 9: 108,077,373 R48H probably benign Het
Rsrc1 T C 3: 67,356,218 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sis A G 3: 72,958,104 probably benign Het
Skint4 T C 4: 112,124,596 M246T probably benign Het
Snrnp200 C A 2: 127,229,077 R1093S probably damaging Het
Sp100 A G 1: 85,701,420 N471D possibly damaging Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Sufu T C 19: 46,401,264 probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Synpo2l G A 14: 20,668,167 T10I possibly damaging Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Terb1 G A 8: 104,484,306 T363I probably benign Het
Timd4 C T 11: 46,817,671 P175S probably damaging Het
Tpst2 T A 5: 112,308,045 M150K probably damaging Het
Trim67 T A 8: 124,817,035 V378E probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Uimc1 G A 13: 55,028,602 T701I possibly damaging Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn1r60 A G 7: 5,544,622 S160P probably benign Het
Vmn2r66 G T 7: 85,005,591 D503E probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Zfp457 G A 13: 67,293,684 P180S probably damaging Het
Other mutations in Tlr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Tlr3 APN 8 45400690 missense probably damaging 0.99
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
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
Z1177:Tlr3 UTSW 8 45397983 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15