Incidental Mutation 'R4084:Tlr5'
| ID |
317000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr5
|
| Ensembl Gene |
ENSMUSG00000079164 |
| Gene Name |
toll-like receptor 5 |
| Synonyms |
|
| MMRRC Submission |
040857-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R4084 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 182802413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 572
(R572S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110997]
[ENSMUST00000191820]
[ENSMUST00000193687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110997
AA Change: R572S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: R572S
| 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 |
possibly damaging
Transcript: ENSMUST00000191820
AA Change: R558S
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: R558S
| 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 |
possibly damaging
Transcript: ENSMUST00000193687
AA Change: R572S
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: R572S
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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 |
|---|
| Amotl2 |
A |
T |
9: 102,601,884 (GRCm39) |
|
probably null |
Het |
| Arhgdig |
T |
C |
17: 26,418,799 (GRCm39) |
D114G |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,600,133 (GRCm39) |
T212I |
possibly damaging |
Het |
| Camkk1 |
C |
T |
11: 72,928,691 (GRCm39) |
T410I |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,644,444 (GRCm39) |
G362R |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,453 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,950,632 (GRCm39) |
I1626V |
probably benign |
Het |
| Cdon |
C |
A |
9: 35,389,427 (GRCm39) |
T844K |
probably damaging |
Het |
| Col28a1 |
G |
A |
6: 8,013,131 (GRCm39) |
Q974* |
probably null |
Het |
| Col28a1 |
C |
G |
6: 8,013,132 (GRCm39) |
K973N |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,358,795 (GRCm39) |
L3428P |
probably damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,676 (GRCm39) |
N519K |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,689,248 (GRCm39) |
V457A |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,280,531 (GRCm39) |
V1009M |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,997,507 (GRCm39) |
K486I |
possibly damaging |
Het |
| Gja1 |
A |
C |
10: 56,264,607 (GRCm39) |
Q322P |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,156 (GRCm39) |
Q189R |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,533,417 (GRCm39) |
V213A |
probably damaging |
Het |
| Herc4 |
G |
T |
10: 63,119,016 (GRCm39) |
G322V |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Htra1 |
T |
C |
7: 130,538,074 (GRCm39) |
S25P |
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,451,126 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
A |
16: 19,933,312 (GRCm39) |
S308T |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,217 (GRCm39) |
N1291S |
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,686,250 (GRCm39) |
I634N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,056,340 (GRCm39) |
F229L |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,442,716 (GRCm39) |
S466R |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,860,232 (GRCm39) |
T22I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,343,865 (GRCm39) |
H2119R |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,920 (GRCm39) |
C634Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,325,938 (GRCm39) |
V86I |
possibly damaging |
Het |
| Noxred1 |
A |
G |
12: 87,280,258 (GRCm39) |
Y25H |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,248 (GRCm39) |
L62P |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,305 (GRCm39) |
I189N |
probably damaging |
Het |
| Or2b2 |
G |
A |
13: 21,887,238 (GRCm39) |
W22* |
probably null |
Het |
| Or2b2 |
C |
A |
13: 21,887,239 (GRCm39) |
L23M |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,527 (GRCm39) |
F89V |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Pla2g4f |
C |
G |
2: 120,142,806 (GRCm39) |
Q101H |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,060,805 (GRCm39) |
F441L |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,939 (GRCm39) |
P309T |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,826,386 (GRCm39) |
Y720H |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,808 (GRCm39) |
E751G |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,253 (GRCm39) |
S686P |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,921,860 (GRCm39) |
V240A |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,126 (GRCm39) |
I273L |
possibly damaging |
Het |
| Slc23a2 |
A |
T |
2: 131,933,137 (GRCm39) |
L107* |
probably null |
Het |
| Slc44a4 |
T |
C |
17: 35,136,323 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc6a18 |
C |
T |
13: 73,815,148 (GRCm39) |
V387I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,334,218 (GRCm39) |
A415T |
probably benign |
Het |
| Tmem45a2 |
C |
T |
16: 56,891,387 (GRCm39) |
G3D |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,892,192 (GRCm39) |
T242A |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,857,871 (GRCm39) |
N1157K |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,899 (GRCm39) |
D235V |
probably benign |
Het |
| Vmn2r37 |
C |
T |
7: 9,218,984 (GRCm39) |
V467I |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,414 (GRCm39) |
E495K |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,213,098 (GRCm39) |
E161G |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,122 (GRCm39) |
N27K |
possibly damaging |
Het |
| Zfp27 |
C |
T |
7: 29,594,792 (GRCm39) |
R391H |
possibly 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 |
|
|
R0556:Tlr5
|
UTSW |
1 |
182,801,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGAATATGCTGCAGCTGGC -3'
(R):5'- GCAGTGAGTTAGGGTACATGC -3'
Sequencing Primer
(F):5'- GGGATGTTTTTCAAGGCCTTTCCC -3'
(R):5'- TAGGGTACATGCAATACACGTCTGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation