Incidental Mutation 'R0556:Tlr5'
ID |
45537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlr5
|
Ensembl Gene |
ENSMUSG00000079164 |
Gene Name |
toll-like receptor 5 |
Synonyms |
|
MMRRC Submission |
038748-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R0556 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 182801716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 340
(N340S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110997]
[ENSMUST00000191820]
[ENSMUST00000193687]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110997
AA Change: N340S
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106625 Gene: ENSMUSG00000079164 AA Change: N340S
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
LRR_TYP
|
109 |
132 |
3.11e-2 |
SMART |
LRR
|
159 |
183 |
5.56e0 |
SMART |
LRR
|
184 |
207 |
1.97e2 |
SMART |
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
LRR
|
326 |
349 |
7.05e-1 |
SMART |
LRR
|
350 |
373 |
2.92e1 |
SMART |
LRR
|
374 |
397 |
2.54e1 |
SMART |
LRR
|
398 |
418 |
1.29e2 |
SMART |
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
LRR_TYP
|
516 |
539 |
1.06e-4 |
SMART |
LRR
|
540 |
563 |
6.13e-1 |
SMART |
LRR
|
564 |
585 |
2.21e2 |
SMART |
LRRCT
|
594 |
645 |
7.01e-6 |
SMART |
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
TIR
|
707 |
852 |
3.89e-25 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191820
AA Change: N326S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141458 Gene: ENSMUSG00000079164 AA Change: N326S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
LRR_TYP
|
95 |
118 |
1.3e-4 |
SMART |
LRR
|
145 |
169 |
2.3e-2 |
SMART |
LRR
|
170 |
193 |
8.2e-1 |
SMART |
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
LRR
|
312 |
335 |
2.9e-3 |
SMART |
LRR
|
336 |
359 |
1.2e-1 |
SMART |
LRR
|
360 |
383 |
1.1e-1 |
SMART |
LRR
|
384 |
404 |
5.4e-1 |
SMART |
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
LRR_TYP
|
502 |
525 |
4.5e-7 |
SMART |
LRR
|
526 |
549 |
2.5e-3 |
SMART |
LRR
|
550 |
571 |
9.4e-1 |
SMART |
LRRCT
|
580 |
631 |
3.4e-8 |
SMART |
transmembrane domain
|
642 |
664 |
N/A |
INTRINSIC |
TIR
|
693 |
838 |
2.5e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193539
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193687
AA Change: N340S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141318 Gene: ENSMUSG00000079164 AA Change: N340S
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
LRR_TYP
|
109 |
132 |
1.3e-4 |
SMART |
LRR
|
159 |
183 |
2.3e-2 |
SMART |
LRR
|
184 |
207 |
8.2e-1 |
SMART |
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
LRR
|
326 |
349 |
2.9e-3 |
SMART |
LRR
|
350 |
373 |
1.2e-1 |
SMART |
LRR
|
374 |
397 |
1.1e-1 |
SMART |
LRR
|
398 |
418 |
5.4e-1 |
SMART |
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
LRR_TYP
|
516 |
539 |
4.5e-7 |
SMART |
LRR
|
540 |
563 |
2.5e-3 |
SMART |
LRR
|
564 |
585 |
9.4e-1 |
SMART |
LRRCT
|
594 |
645 |
3.4e-8 |
SMART |
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
TIR
|
707 |
852 |
2.5e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195614
|
Meta Mutation Damage Score |
0.1103 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
98% (64/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009] PHENOTYPE: Mice homozygous for disruption of this gene have a generally normal phenotype. However they fail to respond immunologically to purified flagellin and are resistant to infection with Salmonella typhimurium. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
T |
A |
17: 15,164,213 (GRCm39) |
Y113* |
probably null |
Het |
4930402F06Rik |
T |
C |
2: 35,280,482 (GRCm39) |
|
probably benign |
Het |
Acad11 |
A |
G |
9: 103,992,501 (GRCm39) |
E481G |
probably damaging |
Het |
Aldh1a1 |
A |
T |
19: 20,611,842 (GRCm39) |
N389Y |
probably damaging |
Het |
Bmpr2 |
C |
T |
1: 59,854,487 (GRCm39) |
T112M |
probably damaging |
Het |
Bms1 |
A |
G |
6: 118,390,140 (GRCm39) |
Y227H |
probably damaging |
Het |
Cab39 |
A |
G |
1: 85,763,212 (GRCm39) |
|
probably benign |
Het |
Ccn3 |
A |
T |
15: 54,612,563 (GRCm39) |
T191S |
probably damaging |
Het |
Ccno |
T |
C |
13: 113,124,820 (GRCm39) |
|
probably null |
Het |
Cct6b |
A |
G |
11: 82,610,270 (GRCm39) |
|
probably benign |
Het |
Cd101 |
A |
C |
3: 100,927,970 (GRCm39) |
I37S |
probably damaging |
Het |
Ces1a |
T |
C |
8: 93,771,740 (GRCm39) |
H19R |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,456,649 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
T |
C |
11: 101,074,822 (GRCm39) |
F831S |
probably benign |
Het |
Col24a1 |
A |
G |
3: 145,020,489 (GRCm39) |
T287A |
possibly damaging |
Het |
Colgalt2 |
C |
T |
1: 152,347,564 (GRCm39) |
|
probably benign |
Het |
Cpd |
A |
G |
11: 76,693,171 (GRCm39) |
|
probably benign |
Het |
Cyp3a16 |
C |
A |
5: 145,392,790 (GRCm39) |
M145I |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,757,719 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,833,426 (GRCm39) |
L1925Q |
probably damaging |
Het |
Eif4g1 |
A |
T |
16: 20,494,544 (GRCm39) |
Y127F |
probably damaging |
Het |
Erap1 |
T |
A |
13: 74,808,444 (GRCm39) |
V52E |
probably damaging |
Het |
Fbxo6 |
G |
T |
4: 148,230,632 (GRCm39) |
T210N |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,858,803 (GRCm39) |
H2308Y |
probably benign |
Het |
Garre1 |
T |
C |
7: 33,939,222 (GRCm39) |
T222A |
probably damaging |
Het |
Gnat3 |
T |
G |
5: 18,224,596 (GRCm39) |
V332G |
probably damaging |
Het |
Ift22 |
T |
A |
5: 136,940,145 (GRCm39) |
|
probably null |
Het |
Igkv4-71 |
A |
G |
6: 69,220,171 (GRCm39) |
C109R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,296 (GRCm39) |
L1295P |
probably benign |
Het |
Itga4 |
T |
C |
2: 79,155,983 (GRCm39) |
I983T |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,079,491 (GRCm39) |
V65D |
probably damaging |
Het |
Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,631,809 (GRCm39) |
|
probably null |
Het |
Morc2b |
A |
T |
17: 33,356,812 (GRCm39) |
M320K |
probably benign |
Het |
Ms4a18 |
C |
A |
19: 10,991,065 (GRCm39) |
V10F |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
Mtor |
A |
G |
4: 148,553,837 (GRCm39) |
E812G |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,457,852 (GRCm39) |
Y121C |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,381 (GRCm39) |
S171P |
probably benign |
Het |
Or4a66 |
A |
C |
2: 88,531,115 (GRCm39) |
V186G |
possibly damaging |
Het |
Or8b53 |
A |
T |
9: 38,667,041 (GRCm39) |
D19V |
possibly damaging |
Het |
Plcd3 |
G |
A |
11: 102,968,632 (GRCm39) |
T353M |
probably damaging |
Het |
Pnpla7 |
T |
A |
2: 24,942,313 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
T |
A |
1: 134,705,060 (GRCm39) |
Y876F |
probably damaging |
Het |
Prelid2 |
T |
A |
18: 42,084,245 (GRCm39) |
|
probably benign |
Het |
Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,680,093 (GRCm39) |
L1887P |
unknown |
Het |
Ptk2b |
A |
G |
14: 66,409,593 (GRCm39) |
L481P |
probably damaging |
Het |
Rgl3 |
T |
A |
9: 21,887,140 (GRCm39) |
K531* |
probably null |
Het |
Sacs |
A |
G |
14: 61,421,407 (GRCm39) |
I115V |
probably damaging |
Het |
Septin3 |
G |
T |
15: 82,167,966 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,673,160 (GRCm39) |
S503P |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,529,404 (GRCm39) |
V1887A |
probably benign |
Het |
Synj2 |
T |
A |
17: 6,088,230 (GRCm39) |
L1427* |
probably null |
Het |
Taar2 |
A |
G |
10: 23,816,793 (GRCm39) |
D111G |
probably damaging |
Het |
Tmco2 |
A |
G |
4: 120,966,314 (GRCm39) |
L14P |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,679,367 (GRCm39) |
D746V |
possibly damaging |
Het |
Trip11 |
C |
A |
12: 101,850,777 (GRCm39) |
E811* |
probably null |
Het |
Ttll9 |
T |
C |
2: 152,815,526 (GRCm39) |
|
probably null |
Het |
Uchl1 |
A |
G |
5: 66,839,824 (GRCm39) |
E122G |
probably benign |
Het |
Vwa3b |
C |
A |
1: 37,203,566 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,452,482 (GRCm39) |
N1533S |
unknown |
Het |
Zfp687 |
G |
T |
3: 94,917,719 (GRCm39) |
D684E |
probably damaging |
Het |
|
Other mutations in Tlr5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Tlr5
|
APN |
1 |
182,801,394 (GRCm39) |
missense |
probably benign |
|
IGL00940:Tlr5
|
APN |
1 |
182,801,761 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL01302:Tlr5
|
APN |
1 |
182,802,313 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01480:Tlr5
|
APN |
1 |
182,801,064 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01717:Tlr5
|
APN |
1 |
182,802,963 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01896:Tlr5
|
APN |
1 |
182,802,444 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02083:Tlr5
|
APN |
1 |
182,801,449 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02135:Tlr5
|
APN |
1 |
182,800,819 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0464:Tlr5
|
UTSW |
1 |
182,801,275 (GRCm39) |
missense |
probably benign |
0.01 |
R0552:Tlr5
|
UTSW |
1 |
182,803,261 (GRCm39) |
splice site |
probably null |
|
R0639:Tlr5
|
UTSW |
1 |
182,801,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0670:Tlr5
|
UTSW |
1 |
182,801,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R1014:Tlr5
|
UTSW |
1 |
182,803,242 (GRCm39) |
missense |
probably benign |
0.00 |
R1125:Tlr5
|
UTSW |
1 |
182,801,457 (GRCm39) |
missense |
probably benign |
0.00 |
R1563:Tlr5
|
UTSW |
1 |
182,802,575 (GRCm39) |
missense |
probably benign |
0.09 |
R1775:Tlr5
|
UTSW |
1 |
182,801,287 (GRCm39) |
missense |
probably damaging |
0.99 |
R1793:Tlr5
|
UTSW |
1 |
182,800,012 (GRCm39) |
missense |
probably benign |
0.00 |
R1991:Tlr5
|
UTSW |
1 |
182,801,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Tlr5
|
UTSW |
1 |
182,801,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R2114:Tlr5
|
UTSW |
1 |
182,803,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R2116:Tlr5
|
UTSW |
1 |
182,803,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R2225:Tlr5
|
UTSW |
1 |
182,799,941 (GRCm39) |
start gained |
probably benign |
|
R2265:Tlr5
|
UTSW |
1 |
182,802,600 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2266:Tlr5
|
UTSW |
1 |
182,802,600 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2268:Tlr5
|
UTSW |
1 |
182,802,600 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2882:Tlr5
|
UTSW |
1 |
182,801,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R3695:Tlr5
|
UTSW |
1 |
182,802,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R3747:Tlr5
|
UTSW |
1 |
182,802,004 (GRCm39) |
missense |
probably benign |
0.01 |
R3749:Tlr5
|
UTSW |
1 |
182,802,004 (GRCm39) |
missense |
probably benign |
0.01 |
R4084:Tlr5
|
UTSW |
1 |
182,802,413 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4794:Tlr5
|
UTSW |
1 |
182,801,461 (GRCm39) |
missense |
probably benign |
0.00 |
R4895:Tlr5
|
UTSW |
1 |
182,801,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Tlr5
|
UTSW |
1 |
182,801,038 (GRCm39) |
missense |
probably benign |
0.07 |
R4966:Tlr5
|
UTSW |
1 |
182,801,038 (GRCm39) |
missense |
probably benign |
0.07 |
R5496:Tlr5
|
UTSW |
1 |
182,801,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Tlr5
|
UTSW |
1 |
182,801,603 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6715:Tlr5
|
UTSW |
1 |
182,800,224 (GRCm39) |
intron |
probably benign |
|
R6825:Tlr5
|
UTSW |
1 |
182,800,609 (GRCm39) |
intron |
probably benign |
|
R6961:Tlr5
|
UTSW |
1 |
182,801,076 (GRCm39) |
nonsense |
probably null |
|
R7135:Tlr5
|
UTSW |
1 |
182,803,088 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7232:Tlr5
|
UTSW |
1 |
182,801,064 (GRCm39) |
missense |
probably benign |
0.09 |
R7255:Tlr5
|
UTSW |
1 |
182,801,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R7257:Tlr5
|
UTSW |
1 |
182,801,798 (GRCm39) |
nonsense |
probably null |
|
R8887:Tlr5
|
UTSW |
1 |
182,801,332 (GRCm39) |
missense |
probably benign |
0.07 |
R9116:Tlr5
|
UTSW |
1 |
182,802,160 (GRCm39) |
missense |
probably benign |
|
R9224:Tlr5
|
UTSW |
1 |
182,802,693 (GRCm39) |
missense |
probably benign |
0.10 |
R9284:Tlr5
|
UTSW |
1 |
182,801,377 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Tlr5
|
UTSW |
1 |
182,801,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGACCAGAGCACATTTGCC -3'
(R):5'- ATGGACCAGCTTATTGCCTCCCAG -3'
Sequencing Primer
(F):5'- AGCACATTTGCCAGCCTG -3'
(R):5'- GGCCTTAAGAGCATTGTCAC -3'
|
Posted On |
2013-06-11 |