Incidental Mutation 'R5572:Tlr9'
| ID |
435741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr9
|
| Ensembl Gene |
ENSMUSG00000045322 |
| Gene Name |
toll-like receptor 9 |
| Synonyms |
|
| MMRRC Submission |
043266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106099797-106104075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106102836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 709
(V709A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062241]
|
| AlphaFold |
Q9EQU3 |
| PDB Structure |
Crystal structure of mouse TLR9 (unliganded form) [X-RAY DIFFRACTION]
Crystal structure of mouse TLR9 in complex with inhibitory DNA4084 (form 1) [X-RAY DIFFRACTION]
Crystal structure of mouse TLR9 in complex with inhibitory DNA4084 (form 2) [X-RAY DIFFRACTION]
Crystal structure of mouse TLR9 in complex with inhibitory DNA_super [X-RAY DIFFRACTION]
Crystal Structure of the C-terminal Domain of Mouse TLR9 [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062241
AA Change: V709A
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: V709A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LRR
|
62 |
85 |
1.49e2 |
SMART |
|
LRR
|
122 |
144 |
1.41e1 |
SMART |
|
LRR
|
198 |
221 |
4.98e-1 |
SMART |
|
LRR
|
283 |
306 |
6.59e1 |
SMART |
|
LRR
|
307 |
332 |
1.62e1 |
SMART |
|
Blast:LRR
|
333 |
361 |
8e-6 |
BLAST |
|
LRR
|
390 |
413 |
7.38e1 |
SMART |
|
LRR
|
414 |
440 |
1.86e2 |
SMART |
|
LRR
|
496 |
520 |
1.81e2 |
SMART |
|
LRR
|
521 |
544 |
6.05e0 |
SMART |
|
LRR
|
545 |
568 |
2.27e2 |
SMART |
|
LRR
|
575 |
599 |
4.58e1 |
SMART |
|
LRR
|
628 |
651 |
3.87e1 |
SMART |
|
LRR_TYP
|
677 |
700 |
3.39e-3 |
SMART |
|
LRR
|
702 |
724 |
2.27e2 |
SMART |
|
LRR
|
726 |
748 |
3.09e2 |
SMART |
|
Blast:LRRCT
|
761 |
810 |
4e-11 |
BLAST |
|
Pfam:TIR
|
870 |
1029 |
7.4e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.2356 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice exhibit impaired immune responses to CpG DNA and altered susceptibility to EAE and parasitic infection. ENU-induced mutants may exhibit altered susceptibility to viral infection or induced colitis and impaired immune response to unmethylated CpG oligonucleotides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,765,108 (GRCm39) |
|
probably null |
Het |
| Abcd4 |
T |
C |
12: 84,653,050 (GRCm39) |
D380G |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,014,886 (GRCm39) |
D68E |
probably benign |
Het |
| Apol10a |
T |
C |
15: 77,372,834 (GRCm39) |
S157P |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,124,119 (GRCm39) |
I327N |
probably damaging |
Het |
| Arnt |
G |
T |
3: 95,382,015 (GRCm39) |
V198L |
possibly damaging |
Het |
| Baiap3 |
T |
A |
17: 25,470,449 (GRCm39) |
D86V |
possibly damaging |
Het |
| Bcl9l |
G |
T |
9: 44,412,095 (GRCm39) |
R27L |
possibly damaging |
Het |
| Bltp2 |
A |
T |
11: 78,155,393 (GRCm39) |
D167V |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,619,773 (GRCm39) |
Y34C |
probably benign |
Het |
| C1rb |
T |
C |
6: 124,557,758 (GRCm39) |
S632P |
probably benign |
Het |
| C3 |
A |
G |
17: 57,531,673 (GRCm39) |
S284P |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,301,668 (GRCm39) |
V1802G |
possibly damaging |
Het |
| Cfhr1 |
A |
G |
1: 139,484,165 (GRCm39) |
V117A |
possibly damaging |
Het |
| Clca3b |
T |
C |
3: 144,533,070 (GRCm39) |
D654G |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,639,168 (GRCm39) |
S1126T |
probably benign |
Het |
| Cts3 |
T |
A |
13: 61,712,782 (GRCm39) |
I313F |
probably damaging |
Het |
| Egfl7 |
T |
C |
2: 26,481,703 (GRCm39) |
V6A |
possibly damaging |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,631 (GRCm39) |
D272N |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,191,804 (GRCm39) |
V111A |
unknown |
Het |
| Hmcn2 |
A |
T |
2: 31,304,537 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,304,538 (GRCm39) |
|
probably null |
Het |
| Igsf11 |
C |
T |
16: 38,845,294 (GRCm39) |
R283C |
probably damaging |
Het |
| Il1a |
A |
G |
2: 129,149,838 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Il6ra |
A |
T |
3: 89,778,589 (GRCm39) |
V420D |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,389,336 (GRCm39) |
V921A |
possibly damaging |
Het |
| Kirrel3 |
G |
A |
9: 34,912,244 (GRCm39) |
A196T |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,349,802 (GRCm39) |
D212V |
possibly damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,755 (GRCm39) |
T75I |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,584,941 (GRCm39) |
S513P |
probably benign |
Het |
| Nnmt |
A |
G |
9: 48,503,447 (GRCm39) |
L193P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Ntm |
A |
G |
9: 28,925,512 (GRCm39) |
I191T |
probably damaging |
Het |
| Or2ak5 |
A |
G |
11: 58,611,055 (GRCm39) |
V273A |
probably benign |
Het |
| Or52d13 |
A |
C |
7: 103,109,905 (GRCm39) |
L170R |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,214,201 (GRCm39) |
T258S |
probably benign |
Het |
| Pam |
A |
C |
1: 97,782,469 (GRCm39) |
|
probably benign |
Het |
| Pomk |
T |
A |
8: 26,473,218 (GRCm39) |
H245L |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rasip1 |
G |
T |
7: 45,286,153 (GRCm39) |
R792L |
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,392 (GRCm39) |
Y1016C |
probably damaging |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,531 (GRCm39) |
N138I |
possibly damaging |
Het |
| Snx13 |
T |
G |
12: 35,153,119 (GRCm39) |
V383G |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,040,142 (GRCm39) |
H125R |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,361 (GRCm39) |
L182Q |
probably damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,326,622 (GRCm39) |
Y655C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,683,972 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,525 (GRCm39) |
I761T |
probably damaging |
Het |
| Ube3b |
G |
A |
5: 114,544,240 (GRCm39) |
D546N |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,237,341 (GRCm39) |
V188A |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,191 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,564,720 (GRCm39) |
K55R |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,693,051 (GRCm39) |
F288L |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,392,693 (GRCm39) |
V4601M |
unknown |
Het |
| Zbtb8b |
T |
C |
4: 129,322,334 (GRCm39) |
K376E |
probably damaging |
Het |
| Zfp619 |
A |
T |
7: 39,184,663 (GRCm39) |
Y231F |
probably benign |
Het |
|
| Other mutations in Tlr9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Tlr9
|
APN |
9 |
106,102,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01764:Tlr9
|
APN |
9 |
106,103,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02077:Tlr9
|
APN |
9 |
106,102,704 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02232:Tlr9
|
APN |
9 |
106,102,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Tlr9
|
APN |
9 |
106,101,929 (GRCm39) |
nonsense |
probably null |
|
|
Asura
|
UTSW |
9 |
106,101,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cpg1
|
UTSW |
9 |
106,102,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cpg11
|
UTSW |
9 |
106,101,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cpg2
|
UTSW |
9 |
106,103,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cpg3
|
UTSW |
9 |
106,101,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cpg5
|
UTSW |
9 |
106,101,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cpg6
|
UTSW |
9 |
106,103,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cpg7
|
UTSW |
9 |
106,102,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
Meager
|
UTSW |
9 |
106,101,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Tlr9
|
UTSW |
9 |
106,100,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0058:Tlr9
|
UTSW |
9 |
106,102,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0058:Tlr9
|
UTSW |
9 |
106,102,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0071:Tlr9
|
UTSW |
9 |
106,100,777 (GRCm39) |
missense |
probably benign |
|
|
R0071:Tlr9
|
UTSW |
9 |
106,100,777 (GRCm39) |
missense |
probably benign |
|
|
R0126:Tlr9
|
UTSW |
9 |
106,102,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0165:Tlr9
|
UTSW |
9 |
106,103,286 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0534:Tlr9
|
UTSW |
9 |
106,102,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0585:Tlr9
|
UTSW |
9 |
106,102,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1527:Tlr9
|
UTSW |
9 |
106,100,949 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1712:Tlr9
|
UTSW |
9 |
106,101,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Tlr9
|
UTSW |
9 |
106,102,142 (GRCm39) |
missense |
probably benign |
|
|
R1940:Tlr9
|
UTSW |
9 |
106,101,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Tlr9
|
UTSW |
9 |
106,102,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Tlr9
|
UTSW |
9 |
106,101,140 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3700:Tlr9
|
UTSW |
9 |
106,101,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Tlr9
|
UTSW |
9 |
106,101,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Tlr9
|
UTSW |
9 |
106,102,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4612:Tlr9
|
UTSW |
9 |
106,101,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Tlr9
|
UTSW |
9 |
106,101,876 (GRCm39) |
missense |
probably benign |
|
|
R5173:Tlr9
|
UTSW |
9 |
106,103,151 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5472:Tlr9
|
UTSW |
9 |
106,101,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Tlr9
|
UTSW |
9 |
106,101,938 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5820:Tlr9
|
UTSW |
9 |
106,099,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6393:Tlr9
|
UTSW |
9 |
106,102,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Tlr9
|
UTSW |
9 |
106,102,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Tlr9
|
UTSW |
9 |
106,101,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7385:Tlr9
|
UTSW |
9 |
106,102,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Tlr9
|
UTSW |
9 |
106,101,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7561:Tlr9
|
UTSW |
9 |
106,103,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8889:Tlr9
|
UTSW |
9 |
106,099,834 (GRCm39) |
start gained |
probably benign |
|
|
R8892:Tlr9
|
UTSW |
9 |
106,099,834 (GRCm39) |
start gained |
probably benign |
|
|
R8926:Tlr9
|
UTSW |
9 |
106,103,213 (GRCm39) |
missense |
probably benign |
|
|
R9221:Tlr9
|
UTSW |
9 |
106,101,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Tlr9
|
UTSW |
9 |
106,102,752 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9581:Tlr9
|
UTSW |
9 |
106,101,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Tlr9
|
UTSW |
9 |
106,100,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9697:Tlr9
|
UTSW |
9 |
106,100,723 (GRCm39) |
nonsense |
probably null |
|
|
R9788:Tlr9
|
UTSW |
9 |
106,101,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tlr9
|
UTSW |
9 |
106,100,862 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAACCTGCATATCCTCCGGC -3'
(R):5'- GTAAGTCTACGAAGGCTGCC -3'
Sequencing Primer
(F):5'- GGCCCCAGAACCTTGAC -3'
(R):5'- CCCACAGGCACAGTGCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation