Incidental Mutation 'R3695:Tlr5'
| ID |
268932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr5
|
| Ensembl Gene |
ENSMUSG00000079164 |
| Gene Name |
toll-like receptor 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R3695 (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 182802912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 739
(R739W)
|
| 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 damaging
Transcript: ENSMUST00000110997
AA Change: R739W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106625
Gene: ENSMUSG00000079164
AA Change: R739W
| 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: R725W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141458
Gene: ENSMUSG00000079164
AA Change: R725W
| 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 |
probably damaging
Transcript: ENSMUST00000193687
AA Change: R739W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141318
Gene: ENSMUSG00000079164
AA Change: R739W
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,626,194 (GRCm39) |
T129I |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Gabrr2 |
A |
G |
4: 33,071,430 (GRCm39) |
D65G |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Mdm4 |
A |
G |
1: 132,919,731 (GRCm39) |
L379S |
probably benign |
Het |
| Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
| Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
| Tsnaxip1 |
A |
G |
8: 106,560,167 (GRCm39) |
T40A |
possibly damaging |
Het |
| Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
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 |
|
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'- CCTTGTAGTCATAAAGTTCCGGG -3'
(R):5'- CCACCACGATGAGAATGCTC -3'
Sequencing Primer
(F):5'- TCATAAAGTTCCGGGGAATCTG -3'
(R):5'- ATGCTCTTGAGGTCAGACAGACTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation