Incidental Mutation 'R7863:Tlr3'
ID 607656
Institutional Source Beutler Lab
Gene Symbol Tlr3
Ensembl Gene ENSMUSG00000031639
Gene Name toll-like receptor 3
Synonyms
MMRRC Submission 045916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R7863 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 45848702-45864112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45850774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 708 (I708L)
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 benign
Transcript: ENSMUST00000034056
AA Change: I708L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: I708L

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 benign
Transcript: ENSMUST00000167106
AA Change: I708L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: I708L

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 benign
Transcript: ENSMUST00000209772
AA Change: I708L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000210013
AA Change: I184L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,101 (GRCm39) S829P probably benign Het
Abca1 A T 4: 53,107,179 (GRCm39) F183I probably benign Het
Abca12 A T 1: 71,332,656 (GRCm39) M1235K probably damaging Het
Abca7 A G 10: 79,844,655 (GRCm39) D1488G probably damaging Het
Adgrl3 A G 5: 81,660,596 (GRCm39) Y387C probably damaging Het
Adnp T C 2: 168,031,270 (GRCm39) K14E possibly damaging Het
Ago3 T C 4: 126,243,990 (GRCm39) R721G possibly damaging Het
Aldh3b3 T A 19: 4,015,322 (GRCm39) Y196* probably null Het
Alox12b T C 11: 69,057,753 (GRCm39) W506R probably damaging Het
Arid4b A G 13: 14,338,734 (GRCm39) I402V probably benign Het
Cep55 C T 19: 38,046,247 (GRCm39) probably benign Het
Chl1 A G 6: 103,683,475 (GRCm39) N767S possibly damaging Het
Cldn6 A G 17: 23,900,096 (GRCm39) N20S probably benign Het
Col23a1 A T 11: 51,463,597 (GRCm39) I420F probably damaging Het
Cxcr6 G A 9: 123,639,914 (GRCm39) R312Q probably damaging Het
Cyp4a10 T C 4: 115,375,622 (GRCm39) V35A probably benign Het
Def6 A G 17: 28,446,841 (GRCm39) N548D possibly damaging Het
Dock6 A G 9: 21,757,954 (GRCm39) V50A possibly damaging Het
Epha8 T A 4: 136,660,966 (GRCm39) I639F probably damaging Het
Ephx2 T A 14: 66,344,692 (GRCm39) R211* probably null Het
Espn C T 4: 152,236,616 (GRCm39) V17M probably damaging Het
Ezr A G 17: 7,008,863 (GRCm39) L403P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Golm1 T C 13: 59,797,383 (GRCm39) Y154C probably damaging Het
Gpam A G 19: 55,059,388 (GRCm39) Y820H probably damaging Het
Gpr12 T C 5: 146,520,370 (GRCm39) D184G possibly damaging Het
Gpr87 C T 3: 59,087,317 (GRCm39) A63T probably damaging Het
Hmx2 G T 7: 131,156,082 (GRCm39) G16V probably benign Het
Hspg2 T C 4: 137,292,135 (GRCm39) V4009A probably benign Het
Iglc3 T C 16: 18,884,248 (GRCm39) D61G not run Het
Ikzf2 G T 1: 69,609,796 (GRCm39) Q144K possibly damaging Het
Il1rap C T 16: 26,495,461 (GRCm39) R23C probably damaging Het
Kctd9 T A 14: 67,967,166 (GRCm39) D161E possibly damaging Het
Klhl8 T C 5: 104,019,968 (GRCm39) N351S probably benign Het
Krt28 G A 11: 99,255,999 (GRCm39) T420I possibly damaging Het
Marchf7 T A 2: 60,071,366 (GRCm39) H623Q probably benign Het
Max A G 12: 76,986,848 (GRCm39) I63T probably damaging Het
Mrpl28 T A 17: 26,343,615 (GRCm39) V125E possibly damaging Het
Mtmr10 T A 7: 63,969,205 (GRCm39) D322E probably benign Het
Mtrex T C 13: 113,045,435 (GRCm39) T366A probably benign Het
Nlrp4f A T 13: 65,342,059 (GRCm39) Y529N possibly damaging Het
Nlrx1 A G 9: 44,176,509 (GRCm39) I31T probably benign Het
Oaz2 G A 9: 65,596,449 (GRCm39) R171Q possibly damaging Het
Or4c121 T G 2: 89,024,295 (GRCm39) I28L probably benign Het
Or5a1 T G 19: 12,097,974 (GRCm39) D34A possibly damaging Het
Or5t16 T G 2: 86,819,424 (GRCm39) Y32S probably damaging Het
Pcdhgc4 T A 18: 37,951,027 (GRCm39) Y814* probably null Het
Pcm1 T A 8: 41,714,163 (GRCm39) I243K probably damaging Het
Pdcd11 A T 19: 47,085,403 (GRCm39) N171I probably damaging Het
Phf20l1 T A 15: 66,487,084 (GRCm39) V400E possibly damaging Het
Pira13 C T 7: 3,827,801 (GRCm39) probably null Het
Psg28 T A 7: 18,162,042 (GRCm39) T154S possibly damaging Het
Ptgs2 T A 1: 149,977,090 (GRCm39) M99K probably damaging Het
Ptprh T A 7: 4,606,097 (GRCm39) M1L probably benign Het
Rbp4 T C 19: 38,112,546 (GRCm39) T140A possibly damaging Het
Rhbdd3 G A 11: 5,053,236 (GRCm39) R12Q probably benign Het
Saal1 T C 7: 46,342,327 (GRCm39) N372S probably benign Het
Satb1 T C 17: 52,112,350 (GRCm39) E88G possibly damaging Het
Shfl G A 9: 20,782,672 (GRCm39) A79T possibly damaging Het
Slc49a3 A T 5: 108,593,400 (GRCm39) L146Q probably damaging Het
Slc6a9 G T 4: 117,721,207 (GRCm39) C319F probably damaging Het
Smc6 T G 12: 11,339,130 (GRCm39) V322G probably benign Het
Snrnp200 T A 2: 127,073,609 (GRCm39) F1336I probably damaging Het
Spg7 T A 8: 123,815,788 (GRCm39) probably null Het
Stab2 G A 10: 86,808,745 (GRCm39) T188I probably benign Het
Tbata A G 10: 61,011,521 (GRCm39) E19G probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ticrr T C 7: 79,331,760 (GRCm39) V757A possibly damaging Het
Tle1 T C 4: 72,059,529 (GRCm39) S261G probably null Het
Tph2 A C 10: 114,915,906 (GRCm39) S422R probably damaging Het
Trim26 A G 17: 37,161,664 (GRCm39) T28A probably damaging Het
Trmt10c A G 16: 55,855,554 (GRCm39) L27S probably benign Het
Tubb6 T C 18: 67,534,790 (GRCm39) S230P probably damaging Het
Usf1 C T 1: 171,245,385 (GRCm39) Q266* probably null Het
Vegfa A G 17: 46,336,461 (GRCm39) F220L probably damaging Het
Vmn2r105 C T 17: 20,428,937 (GRCm39) C713Y probably benign Het
Vmn2r17 T A 5: 109,568,035 (GRCm39) S53T probably benign Het
Xirp2 A T 2: 67,343,074 (GRCm39) T1772S probably benign Het
Zfp462 T C 4: 55,007,747 (GRCm39) I62T probably benign Het
Zfp516 T A 18: 83,019,453 (GRCm39) I1157N probably benign Het
Zfp819 C A 7: 43,267,316 (GRCm39) Q600K probably benign Het
Other mutations in Tlr3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAAATGTTCCCAGACCCAGTCTC -3'
(R):5'- TATGCGCTTCAATCCGTTCG -3'

Sequencing Primer
(F):5'- AGACCCAGTCTCTGTCTTTATGGG -3'
(R):5'- CGACTGCACGTGTGAAAGTATTTCC -3'
Posted On 2019-12-20