Incidental Mutation 'R5501:Tlr3'
| ID |
430613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr3
|
| Ensembl Gene |
ENSMUSG00000031639 |
| Gene Name |
toll-like receptor 3 |
| Synonyms |
|
| MMRRC Submission |
043062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R5501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45848702-45864112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45851851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 349
(D349N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034056]
[ENSMUST00000167106]
[ENSMUST00000209651]
[ENSMUST00000209772]
[ENSMUST00000210013]
[ENSMUST00000210996]
[ENSMUST00000211370]
|
| AlphaFold |
Q99MB1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034056
AA Change: D349N
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034056
Gene: ENSMUSG00000031639
AA Change: D349N
| 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 |
possibly damaging
Transcript: ENSMUST00000167106
AA Change: D349N
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126556
Gene: ENSMUSG00000031639
AA Change: D349N
| 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 |
possibly damaging
Transcript: ENSMUST00000209772
AA Change: D349N
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210013
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211370
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
C |
8: 44,022,941 (GRCm39) |
L183* |
probably null |
Het |
| Alox12e |
G |
T |
11: 70,207,055 (GRCm39) |
Q584K |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,074,399 (GRCm39) |
S285P |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Col25a1 |
A |
G |
3: 130,389,312 (GRCm39) |
T632A |
probably benign |
Het |
| Coro6 |
T |
C |
11: 77,358,622 (GRCm39) |
F227S |
probably damaging |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,389,783 (GRCm39) |
D569G |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,167,104 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,064,800 (GRCm39) |
V508A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,820,061 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,488,471 (GRCm39) |
D452G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,225,565 (GRCm39) |
R1539G |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,364 (GRCm39) |
S86G |
probably benign |
Het |
| Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
| Ltb4r1 |
A |
G |
14: 56,005,539 (GRCm39) |
N281D |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,151,948 (GRCm39) |
S638P |
unknown |
Het |
| Mical1 |
G |
A |
10: 41,362,075 (GRCm39) |
A934T |
probably benign |
Het |
| Micu3 |
C |
A |
8: 40,807,341 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
T |
A |
2: 155,640,056 (GRCm39) |
Y129N |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,293,599 (GRCm39) |
Y14N |
probably damaging |
Het |
| Msmo1 |
A |
T |
8: 65,175,523 (GRCm39) |
I169N |
probably damaging |
Het |
| Mtrr |
G |
T |
13: 68,727,766 (GRCm39) |
T60K |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,230 (GRCm39) |
L180* |
probably null |
Het |
| Or5p6 |
G |
T |
7: 107,631,360 (GRCm39) |
Y63* |
probably null |
Het |
| Or7g30 |
T |
A |
9: 19,352,290 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,768,090 (GRCm39) |
C8* |
probably null |
Het |
| Phrf1 |
T |
G |
7: 140,839,834 (GRCm39) |
S1169A |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,569 (GRCm39) |
T408A |
probably damaging |
Het |
| Plch1 |
G |
T |
3: 63,615,162 (GRCm39) |
Q778K |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,417 (GRCm39) |
V499A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,492,849 (GRCm39) |
S3736I |
possibly damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,909,915 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smcp |
A |
G |
3: 92,491,731 (GRCm39) |
C39R |
unknown |
Het |
| Sox9 |
T |
A |
11: 112,674,685 (GRCm39) |
L161Q |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,805,811 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
G |
T |
3: 83,833,435 (GRCm39) |
N809K |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,032,908 (GRCm39) |
Y285C |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,011,804 (GRCm39) |
N98Y |
probably damaging |
Het |
|
| Other mutations in Tlr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GTATCCTGAGTTGGCCTAACC -3'
(R):5'- ACAACCTCCATGATGTCGGC -3'
Sequencing Primer
(F):5'- GCCTAACCAAGAGAAAGTACCATTTG -3'
(R):5'- GGCAACGGTTCCTTCTCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation