Incidental Mutation 'IGL03287:Tlr3'
ID 415754
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03287
Quality Score
Status
Chromosome 8
Chromosomal Location 45848702-45864112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45855817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 121 (V121A)
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 benign
Transcript: ENSMUST00000034056
AA Change: V121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: V121A

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: V121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: V121A

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 benign
Transcript: ENSMUST00000209772
AA Change: V121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A T 5: 115,008,237 (GRCm39) D17V probably damaging Het
Cdh5 T A 8: 104,854,747 (GRCm39) V225E probably damaging Het
Cfap52 C T 11: 67,826,802 (GRCm39) probably benign Het
Cib4 A G 5: 30,645,887 (GRCm39) L127P probably benign Het
Fbln2 A G 6: 91,210,476 (GRCm39) H140R probably damaging Het
Grm8 A G 6: 27,760,254 (GRCm39) F359L possibly damaging Het
Kat7 A T 11: 95,190,935 (GRCm39) D150E probably damaging Het
Kif1b A G 4: 149,299,438 (GRCm39) I944T possibly damaging Het
Krt87 T C 15: 101,330,218 (GRCm39) probably benign Het
Mast1 T C 8: 85,639,982 (GRCm39) S1142G probably benign Het
Neb A G 2: 52,027,335 (GRCm39) Y6889H probably damaging Het
Or10ak13 A G 4: 118,639,551 (GRCm39) V77A possibly damaging Het
Or1e16 A T 11: 73,286,845 (GRCm39) M1K probably null Het
Plk4 A T 3: 40,759,553 (GRCm39) I150L probably benign Het
Scn5a T C 9: 119,318,844 (GRCm39) D1598G probably damaging Het
Skor2 A G 18: 76,963,830 (GRCm39) K925E probably damaging Het
Slc25a29 A T 12: 108,797,135 (GRCm39) F22L possibly damaging Het
Slc27a2 A G 2: 126,395,312 (GRCm39) T80A probably damaging Het
Tubgcp3 A T 8: 12,689,630 (GRCm39) D545E possibly damaging Het
Zdhhc8 T C 16: 18,042,964 (GRCm39) Y412C probably benign Het
Zmynd12 A G 4: 119,310,776 (GRCm39) E328G probably damaging 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
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
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
Posted On 2016-08-02