Incidental Mutation 'R1477:Tlr3'
ID 164131
Institutional Source Beutler Lab
Gene Symbol Tlr3
Ensembl Gene ENSMUSG00000031639
Gene Name toll-like receptor 3
Synonyms
MMRRC Submission 039530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R1477 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 45848702-45864112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45851202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 41 (L41P)
Ref Sequence ENSEMBL: ENSMUSP00000147783 (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: L565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: L565P

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: L565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: L565P

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: ENSMUST00000209651
Predicted Effect probably damaging
Transcript: ENSMUST00000209772
AA Change: L565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210013
AA Change: L41P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210996
Predicted Effect probably benign
Transcript: ENSMUST00000211370
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A C 19: 55,279,904 (GRCm39) D481A probably benign Het
Adam2 A C 14: 66,315,149 (GRCm39) L8R possibly damaging Het
Ajm1 G C 2: 25,469,765 (GRCm39) H49D possibly damaging Het
Arfgef1 A T 1: 10,259,509 (GRCm39) C619S probably damaging Het
Atm A G 9: 53,375,573 (GRCm39) I2082T probably benign Het
Cgrrf1 A G 14: 47,090,895 (GRCm39) I210M probably benign Het
Clec2e A T 6: 129,072,163 (GRCm39) V72E probably benign Het
Cmtr1 T C 17: 29,916,131 (GRCm39) V587A possibly damaging Het
Col1a2 T C 6: 4,539,673 (GRCm39) F1314L unknown Het
Ctbp2 T C 7: 132,600,670 (GRCm39) E618G probably damaging Het
Dnaaf6rt G A 1: 31,262,104 (GRCm39) V29M probably benign Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Ezh1 A T 11: 101,083,810 (GRCm39) D733E probably damaging Het
Fbxl6 A G 15: 76,421,934 (GRCm39) S202P probably benign Het
Fcgbpl1 C A 7: 27,856,518 (GRCm39) Q2102K probably benign Het
Grid2ip G A 5: 143,361,340 (GRCm39) A191T probably damaging Het
Helz2 T C 2: 180,874,597 (GRCm39) S1966G probably benign Het
Ipmk A G 10: 71,217,607 (GRCm39) K385E probably damaging Het
Itga11 G A 9: 62,662,493 (GRCm39) V489I probably benign Het
Klhl6 T C 16: 19,784,727 (GRCm39) K137R probably benign Het
Meis1 G A 11: 18,831,665 (GRCm39) Q458* probably null Het
Mst1r T C 9: 107,785,523 (GRCm39) S394P probably benign Het
Mus81 G T 19: 5,536,362 (GRCm39) H155Q probably benign Het
Neb G A 2: 52,154,134 (GRCm39) L2326F probably damaging Het
Nf1 C T 11: 79,286,685 (GRCm39) Q162* probably null Het
Nin T C 12: 70,090,958 (GRCm39) E819G possibly damaging Het
Nox4 T C 7: 86,945,074 (GRCm39) V79A probably benign Het
Or11g2 A T 14: 50,856,170 (GRCm39) I164F probably damaging Het
Or13a28 T A 7: 140,218,355 (GRCm39) I247N possibly damaging Het
Or5ae2 T A 7: 84,506,225 (GRCm39) I216N probably damaging Het
Or6d12 A T 6: 116,493,626 (GRCm39) Y296F probably damaging Het
Peg3 T A 7: 6,719,141 (GRCm39) D69V probably damaging Het
Pnp2 A G 14: 51,196,992 (GRCm39) E26G probably benign Het
Pnpt1 T A 11: 29,087,102 (GRCm39) C154S probably benign Het
Ppp1r26 C T 2: 28,342,800 (GRCm39) T810I probably benign Het
Ppp2r5b A G 19: 6,280,257 (GRCm39) S349P probably benign Het
Prdm4 C T 10: 85,740,129 (GRCm39) V424I probably benign Het
Rraga A G 4: 86,494,996 (GRCm39) I281V probably benign Het
Sall1 T C 8: 89,759,510 (GRCm39) E198G probably damaging Het
Serpina9 T C 12: 103,963,362 (GRCm39) D382G possibly damaging Het
Stt3b A G 9: 115,095,260 (GRCm39) V257A probably damaging Het
Taf2 A T 15: 54,925,568 (GRCm39) Y225N possibly damaging Het
Trappc12 A T 12: 28,787,751 (GRCm39) V444E probably benign Het
Trim34a T A 7: 103,897,287 (GRCm39) V117D possibly damaging Het
Ttbk1 A C 17: 46,787,725 (GRCm39) M259R probably benign Het
Ttll12 A G 15: 83,464,303 (GRCm39) V509A probably damaging Het
Ush2a G A 1: 188,581,273 (GRCm39) V3718M probably benign Het
Vps35 T A 8: 86,014,429 (GRCm39) E73D probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) 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
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
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'- TTTGAAAAGGCGGCCCGAAAAC -3'
(R):5'- CCCAGCCTTCAAAGACTGATGCTC -3'

Sequencing Primer
(F):5'- CCTTCTCAACAGATGTTATGAGGTTC -3'
(R):5'- TTCAAAGACTGATGCTCAGGAG -3'
Posted On 2014-03-28