Incidental Mutation 'R4212:Tlr4'
| ID |
319235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr4
|
| Ensembl Gene |
ENSMUSG00000039005 |
| Gene Name |
toll-like receptor 4 |
| Synonyms |
Lps, lipopolysaccharide response, Rasl2-8 |
| MMRRC Submission |
041641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
66745788-66765338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66758563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 452
(I452N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048096]
[ENSMUST00000107365]
|
| AlphaFold |
Q9QUK6 |
| PDB Structure |
Crystal structure of mouse TLR4 and mouse MD-2 complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/lipid IVa complex [X-RAY DIFFRACTION]
Crystal structure of mouse TLR4/MD-2/LPS complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048096
AA Change: I452N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045770
Gene: ENSMUSG00000039005
AA Change: I452N
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
76 |
99 |
7.36e0 |
SMART |
|
LRR
|
100 |
123 |
1.86e0 |
SMART |
|
LRR
|
173 |
196 |
8.24e0 |
SMART |
|
LRR
|
370 |
401 |
4.33e1 |
SMART |
|
LRR
|
468 |
492 |
2.54e2 |
SMART |
|
LRR
|
493 |
516 |
1.86e2 |
SMART |
|
LRR
|
517 |
540 |
1.67e2 |
SMART |
|
LRR
|
541 |
563 |
1.92e2 |
SMART |
|
LRRCT
|
576 |
626 |
4.74e-3 |
SMART |
|
transmembrane domain
|
636 |
658 |
N/A |
INTRINSIC |
|
TIR
|
671 |
816 |
7.3e-39 |
SMART |
|
low complexity region
|
822 |
833 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107365
|
| SMART Domains |
Protein: ENSMUSP00000102988
Gene: ENSMUSG00000039005
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3VQ2|B
|
22 |
86 |
2e-38 |
PDB |
|
SCOP:d1m0za_
|
27 |
86 |
4e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147008
|
| Meta Mutation Damage Score |
0.9014 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the evolutionarily-conserved Toll-like receptor family, whose members are type-1 transmembrane proteins that are involved in innate immunity. Toll-like receptors are characterized by an extracellular leucine-rich repeat domain that functions in ligand recognition and an intracellular toll/interleukin-1 receptor-like domain that is crucial for signal transduction. The receptor encoded by this gene mediates the innate immune response to bacterial lipopolysaccharide, a major component of the outer membrane of Gram-negative bacteria, through synthesis of pro-inflammatory cytokines and chemokines. In addition, this protein can recognize other pathogens from Gram-negative and Gram-positive bacteria as well as viral components. Mice deficient in this gene display a number of immune response-related phenotypes including hyporesponsiveness to bacterial lipopolysaccharide and increased levels of respiratory syncytial virus compared to controls. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Targeted(2) Spontaneous(6) Chemically induced(2)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
T |
15: 60,791,585 (GRCm39) |
L284M |
possibly damaging |
Het |
| Adamts15 |
A |
G |
9: 30,817,470 (GRCm39) |
V536A |
probably damaging |
Het |
| Arsi |
A |
T |
18: 61,049,773 (GRCm39) |
I219F |
probably damaging |
Het |
| Atg7 |
G |
A |
6: 114,680,386 (GRCm39) |
G447E |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,196,093 (GRCm39) |
H1223L |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,461,921 (GRCm39) |
M87T |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,791 (GRCm39) |
D415G |
probably benign |
Het |
| Chrnb2 |
A |
T |
3: 89,668,851 (GRCm39) |
C155S |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,569 (GRCm39) |
Q443L |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,823 (GRCm39) |
D857E |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,777,064 (GRCm39) |
D1124G |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,302,273 (GRCm39) |
A440T |
probably benign |
Het |
| Gc |
T |
C |
5: 89,583,434 (GRCm39) |
K370E |
probably benign |
Het |
| Gm11559 |
A |
G |
11: 99,755,726 (GRCm39) |
Q125R |
unknown |
Het |
| Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2e |
A |
G |
11: 69,118,949 (GRCm39) |
F681S |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,137,953 (GRCm39) |
I760V |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,106,603 (GRCm39) |
G219D |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,010,178 (GRCm39) |
H556R |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,990 (GRCm39) |
D923G |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,552,357 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,742,884 (GRCm39) |
|
probably benign |
Het |
| Krtap17-1 |
A |
G |
11: 99,884,740 (GRCm39) |
L9P |
unknown |
Het |
| Lats2 |
C |
T |
14: 57,933,712 (GRCm39) |
D802N |
possibly damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,606 (GRCm39) |
T632S |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,813,349 (GRCm39) |
R2183* |
probably null |
Het |
| Myorg |
T |
C |
4: 41,498,307 (GRCm39) |
E441G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,563,383 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,360,624 (GRCm39) |
V1434E |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,754,110 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,346 (GRCm39) |
Y218* |
probably null |
Het |
| Or5b102 |
T |
G |
19: 13,041,123 (GRCm39) |
M116R |
probably damaging |
Het |
| Or5k1 |
T |
A |
16: 58,617,732 (GRCm39) |
H159L |
possibly damaging |
Het |
| Pard3 |
T |
A |
8: 128,336,939 (GRCm39) |
I1143K |
probably benign |
Het |
| Pcdha7 |
A |
G |
18: 37,108,027 (GRCm39) |
T351A |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,974,089 (GRCm39) |
G318V |
unknown |
Het |
| Plch1 |
T |
A |
3: 63,778,180 (GRCm39) |
|
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,046 (GRCm39) |
I79T |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,325 (GRCm39) |
I244T |
probably damaging |
Het |
| Psmd12 |
T |
C |
11: 107,376,585 (GRCm39) |
C74R |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,529,805 (GRCm39) |
G269E |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,786,115 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,333,194 (GRCm39) |
G781D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,854,954 (GRCm39) |
V147A |
possibly damaging |
Het |
| Sema3b |
C |
T |
9: 107,480,597 (GRCm39) |
V117M |
probably damaging |
Het |
| Sfxn5 |
A |
T |
6: 85,309,288 (GRCm39) |
L139* |
probably null |
Het |
| Slc2a12 |
A |
T |
10: 22,577,993 (GRCm39) |
K596N |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,854,388 (GRCm39) |
T82I |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,544 (GRCm39) |
D511G |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,682,632 (GRCm39) |
K314E |
possibly damaging |
Het |
|
| Other mutations in Tlr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Tlr4
|
APN |
4 |
66,758,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01343:Tlr4
|
APN |
4 |
66,752,124 (GRCm39) |
splice site |
probably benign |
|
|
IGL01669:Tlr4
|
APN |
4 |
66,759,504 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01875:Tlr4
|
APN |
4 |
66,757,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Tlr4
|
APN |
4 |
66,759,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02244:Tlr4
|
APN |
4 |
66,752,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02793:Tlr4
|
APN |
4 |
66,757,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03269:Tlr4
|
APN |
4 |
66,759,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Tlr4
|
APN |
4 |
66,757,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
bugsy
|
UTSW |
4 |
66,757,491 (GRCm39) |
nonsense |
probably null |
|
|
Cruyff
|
UTSW |
4 |
66,758,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
don_knotts
|
UTSW |
4 |
66,759,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Guardiola
|
UTSW |
4 |
66,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lops
|
UTSW |
4 |
66,752,117 (GRCm39) |
splice site |
probably null |
|
|
lps3
|
UTSW |
4 |
66,759,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lps4
|
UTSW |
4 |
66,759,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
milquetoast
|
UTSW |
4 |
66,757,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
salvador
|
UTSW |
4 |
66,758,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0449:Tlr4
|
UTSW |
4 |
66,757,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0481:Tlr4
|
UTSW |
4 |
66,746,153 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0576:Tlr4
|
UTSW |
4 |
66,757,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0827:Tlr4
|
UTSW |
4 |
66,752,117 (GRCm39) |
splice site |
probably null |
|
|
R1488:Tlr4
|
UTSW |
4 |
66,757,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Tlr4
|
UTSW |
4 |
66,757,611 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1522:Tlr4
|
UTSW |
4 |
66,757,933 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1616:Tlr4
|
UTSW |
4 |
66,757,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Tlr4
|
UTSW |
4 |
66,759,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Tlr4
|
UTSW |
4 |
66,759,313 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1888:Tlr4
|
UTSW |
4 |
66,759,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tlr4
|
UTSW |
4 |
66,759,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Tlr4
|
UTSW |
4 |
66,757,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Tlr4
|
UTSW |
4 |
66,759,272 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1998:Tlr4
|
UTSW |
4 |
66,758,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Tlr4
|
UTSW |
4 |
66,758,220 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2305:Tlr4
|
UTSW |
4 |
66,758,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3011:Tlr4
|
UTSW |
4 |
66,757,491 (GRCm39) |
nonsense |
probably null |
|
|
R3420:Tlr4
|
UTSW |
4 |
66,757,773 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3422:Tlr4
|
UTSW |
4 |
66,757,773 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3818:Tlr4
|
UTSW |
4 |
66,759,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4213:Tlr4
|
UTSW |
4 |
66,758,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4417:Tlr4
|
UTSW |
4 |
66,757,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Tlr4
|
UTSW |
4 |
66,757,477 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4735:Tlr4
|
UTSW |
4 |
66,759,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Tlr4
|
UTSW |
4 |
66,759,616 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5613:Tlr4
|
UTSW |
4 |
66,759,122 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5705:Tlr4
|
UTSW |
4 |
66,752,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Tlr4
|
UTSW |
4 |
66,758,652 (GRCm39) |
missense |
probably benign |
|
|
R6021:Tlr4
|
UTSW |
4 |
66,759,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Tlr4
|
UTSW |
4 |
66,758,070 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6227:Tlr4
|
UTSW |
4 |
66,758,832 (GRCm39) |
missense |
probably benign |
|
|
R7139:Tlr4
|
UTSW |
4 |
66,758,520 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7199:Tlr4
|
UTSW |
4 |
66,759,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7220:Tlr4
|
UTSW |
4 |
66,758,188 (GRCm39) |
missense |
probably benign |
|
|
R7337:Tlr4
|
UTSW |
4 |
66,758,191 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7487:Tlr4
|
UTSW |
4 |
66,842,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7638:Tlr4
|
UTSW |
4 |
66,758,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7773:Tlr4
|
UTSW |
4 |
66,757,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Tlr4
|
UTSW |
4 |
66,759,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Tlr4
|
UTSW |
4 |
66,758,058 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8044:Tlr4
|
UTSW |
4 |
66,746,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8062:Tlr4
|
UTSW |
4 |
66,758,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8080:Tlr4
|
UTSW |
4 |
66,757,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Tlr4
|
UTSW |
4 |
66,757,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8916:Tlr4
|
UTSW |
4 |
66,847,268 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9100:Tlr4
|
UTSW |
4 |
66,758,518 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9415:Tlr4
|
UTSW |
4 |
66,746,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9562:Tlr4
|
UTSW |
4 |
66,759,522 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9565:Tlr4
|
UTSW |
4 |
66,759,522 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9752:Tlr4
|
UTSW |
4 |
66,757,912 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0064:Tlr4
|
UTSW |
4 |
66,758,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Tlr4
|
UTSW |
4 |
66,847,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGAGCTTTAGTGGTTGC -3'
(R):5'- GTCTATGGAGGGTGTCAAATACC -3'
Sequencing Primer
(F):5'- GCTGTTCTTATTCTGATTTGGGAAC -3'
(R):5'- CCCCCAAGATATTTGTTCCAATTGAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation