Incidental Mutation 'R2266:Tlr5'
| ID |
242002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr5
|
| Ensembl Gene |
ENSMUSG00000079164 |
| Gene Name |
toll-like receptor 5 |
| Synonyms |
|
| MMRRC Submission |
040266-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R2266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
182782353-182804010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 182802600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 635
(S635T)
|
| 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: S635T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: S635T
| 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: S621T
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: S621T
| 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: S635T
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: S635T
| 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
|
| Meta Mutation Damage Score |
0.1392 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,992,323 (GRCm39) |
D1143V |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,390,479 (GRCm39) |
V317A |
probably damaging |
Het |
| Cdh1 |
G |
A |
8: 107,388,635 (GRCm39) |
V564I |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,818,090 (GRCm39) |
V814A |
probably benign |
Het |
| Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
| Cyb561d1 |
A |
T |
3: 108,106,720 (GRCm39) |
H166Q |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,855,540 (GRCm39) |
|
probably benign |
Het |
| Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,830,332 (GRCm39) |
|
probably null |
Het |
| Eid1 |
A |
G |
2: 125,515,344 (GRCm39) |
D78G |
possibly damaging |
Het |
| Emid1 |
T |
A |
11: 5,094,331 (GRCm39) |
Q60L |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,067,878 (GRCm39) |
V801E |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,552,820 (GRCm39) |
V298A |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
C |
T |
5: 143,371,847 (GRCm39) |
P690L |
probably benign |
Het |
| H2bc9 |
T |
C |
13: 23,727,162 (GRCm39) |
K121E |
possibly damaging |
Het |
| Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
| Hr |
A |
T |
14: 70,795,547 (GRCm39) |
D393V |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,025,268 (GRCm39) |
Y253C |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klra10 |
A |
G |
6: 130,246,264 (GRCm39) |
V237A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,562,593 (GRCm39) |
K206R |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,928,382 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
G |
10: 24,750,499 (GRCm39) |
S109A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,420,067 (GRCm39) |
V1401A |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,393,296 (GRCm39) |
E500G |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,282,575 (GRCm39) |
I775V |
probably benign |
Het |
| Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
| Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
| P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
| Polq |
C |
A |
16: 36,882,515 (GRCm39) |
Q1560K |
possibly damaging |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 67,032,846 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,152,011 (GRCm39) |
S183T |
possibly damaging |
Het |
| Robo1 |
T |
A |
16: 72,775,660 (GRCm39) |
F728L |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,082,295 (GRCm39) |
N1407S |
probably benign |
Het |
| Sec14l1 |
A |
T |
11: 117,047,314 (GRCm39) |
H664L |
probably damaging |
Het |
| Slc10a7 |
G |
A |
8: 79,236,264 (GRCm39) |
G21S |
probably benign |
Het |
| Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
| Spesp1 |
A |
T |
9: 62,180,834 (GRCm39) |
L25M |
probably damaging |
Het |
| St6galnac1 |
G |
A |
11: 116,658,673 (GRCm39) |
Q264* |
probably null |
Het |
| Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,506 (GRCm39) |
E228G |
probably benign |
Het |
| Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
| Tnfsf13b |
A |
T |
8: 10,057,306 (GRCm39) |
R125S |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,258,011 (GRCm39) |
V378D |
probably damaging |
Het |
| Vmn1r38 |
G |
T |
6: 66,753,433 (GRCm39) |
Q228K |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,888,765 (GRCm39) |
D948G |
possibly damaging |
Het |
| Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
| Zfp418 |
G |
A |
7: 7,185,807 (GRCm39) |
R590K |
probably benign |
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 |
|
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'- CTAACAAGCTGACCGTGCTC -3'
(R):5'- AGCTTCTGGATGGTCTTATAGCAC -3'
Sequencing Primer
(F):5'- ACCTGCTAATTTAGAGATTCTCGAC -3'
(R):5'- GGTCTTATAGCACAGGAAACAGATTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation