Incidental Mutation 'R4950:Tlr2'
| ID |
381903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlr2
|
| Ensembl Gene |
ENSMUSG00000027995 |
| Gene Name |
toll-like receptor 2 |
| Synonyms |
Ly105 |
| MMRRC Submission |
042547-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4950 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83743579-83749045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83744639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 481
(E481D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029623]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029623
AA Change: E481D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029623
Gene: ENSMUSG00000027995
AA Change: E481D
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
51 |
74 |
1.45e2 |
SMART |
|
LRR
|
75 |
98 |
2.33e2 |
SMART |
|
LRR_TYP
|
99 |
122 |
3.69e-4 |
SMART |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
LRR
|
359 |
384 |
6.78e1 |
SMART |
|
LRR
|
386 |
409 |
2.54e2 |
SMART |
|
LRR
|
412 |
435 |
8.49e1 |
SMART |
|
LRR_TYP
|
476 |
499 |
3.34e-2 |
SMART |
|
LRRCT
|
533 |
586 |
5.04e-7 |
SMART |
|
transmembrane domain
|
588 |
610 |
N/A |
INTRINSIC |
|
TIR
|
640 |
784 |
5.08e-38 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
100% (58/58) |
| 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. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice demonstrate abnormal responses to bacterial and viral infections. Mice homozygous for a knock-out allele also exhibit disruption in circadian active and inactive state consolidation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
T |
2: 154,153,579 (GRCm39) |
D215V |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,252,872 (GRCm39) |
E625G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,207,302 (GRCm39) |
S181N |
possibly damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,822,711 (GRCm39) |
I887L |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,945,495 (GRCm39) |
K1408* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,975,135 (GRCm39) |
G654W |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,073 (GRCm39) |
S99P |
probably benign |
Het |
| Disp3 |
A |
T |
4: 148,342,583 (GRCm39) |
D622E |
possibly damaging |
Het |
| Dnajc22 |
G |
A |
15: 98,999,615 (GRCm39) |
V267I |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,292 (GRCm39) |
G257S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,733 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,839,534 (GRCm39) |
R2237G |
unknown |
Het |
| Fez1 |
G |
A |
9: 36,779,178 (GRCm39) |
R285Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,777,276 (GRCm39) |
H101L |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,758 (GRCm39) |
C1359Y |
probably benign |
Het |
| Fxyd7 |
G |
A |
7: 30,746,815 (GRCm39) |
T15I |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,212,529 (GRCm39) |
D31E |
probably benign |
Het |
| Iho1 |
A |
C |
9: 108,298,709 (GRCm39) |
S36R |
probably damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,428 (GRCm39) |
Y432F |
probably damaging |
Het |
| Itih5 |
A |
C |
2: 10,239,892 (GRCm39) |
I340L |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,822,572 (GRCm39) |
L164S |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,845,274 (GRCm39) |
I490T |
probably damaging |
Het |
| Mef2b |
T |
C |
8: 70,619,846 (GRCm39) |
Y311H |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,276,537 (GRCm39) |
L111Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,276,091 (GRCm39) |
D475G |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,273 (GRCm39) |
I1155T |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
G |
A |
9: 19,695,027 (GRCm39) |
M199I |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,297 (GRCm39) |
I227T |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,768,377 (GRCm39) |
I186F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,283 (GRCm39) |
V421E |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,620 (GRCm39) |
I178K |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,578,569 (GRCm39) |
K836E |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,058,752 (GRCm39) |
|
probably null |
Het |
| Pwp2 |
A |
G |
10: 78,018,840 (GRCm39) |
Y56H |
probably benign |
Het |
| Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
| Rpain |
C |
G |
11: 70,861,747 (GRCm39) |
H50Q |
probably benign |
Het |
| Rps9 |
CTGTTTG |
CTG |
7: 3,707,758 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
T |
16: 32,663,563 (GRCm39) |
S358T |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,756,897 (GRCm39) |
R1586C |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,730 (GRCm39) |
I669V |
probably benign |
Het |
| Slx1b |
T |
C |
7: 126,290,939 (GRCm39) |
|
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,106,485 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,233,700 (GRCm39) |
I288V |
possibly damaging |
Het |
| Trim17 |
A |
T |
11: 58,861,254 (GRCm39) |
D253V |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,227 (GRCm39) |
D429G |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,169,090 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
A |
G |
1: 37,124,413 (GRCm39) |
Q337R |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,143,734 (GRCm39) |
N172S |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,578,176 (GRCm39) |
H415Q |
probably damaging |
Het |
| Zfp87 |
G |
A |
13: 67,666,018 (GRCm39) |
T148I |
probably benign |
Het |
|
| Other mutations in Tlr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01762:Tlr2
|
APN |
3 |
83,744,301 (GRCm39) |
missense |
probably benign |
|
|
IGL02160:Tlr2
|
APN |
3 |
83,744,678 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02405:Tlr2
|
APN |
3 |
83,743,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02940:Tlr2
|
APN |
3 |
83,743,781 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03165:Tlr2
|
APN |
3 |
83,745,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
languid
|
UTSW |
3 |
83,744,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Tlr2
|
UTSW |
3 |
83,745,603 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Tlr2
|
UTSW |
3 |
83,745,756 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1177:Tlr2
|
UTSW |
3 |
83,746,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1251:Tlr2
|
UTSW |
3 |
83,745,576 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1346:Tlr2
|
UTSW |
3 |
83,743,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1553:Tlr2
|
UTSW |
3 |
83,744,770 (GRCm39) |
missense |
probably benign |
|
|
R1613:Tlr2
|
UTSW |
3 |
83,744,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Tlr2
|
UTSW |
3 |
83,745,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Tlr2
|
UTSW |
3 |
83,744,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Tlr2
|
UTSW |
3 |
83,745,178 (GRCm39) |
missense |
probably benign |
|
|
R4724:Tlr2
|
UTSW |
3 |
83,745,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Tlr2
|
UTSW |
3 |
83,745,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Tlr2
|
UTSW |
3 |
83,745,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Tlr2
|
UTSW |
3 |
83,743,810 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6169:Tlr2
|
UTSW |
3 |
83,745,455 (GRCm39) |
missense |
probably benign |
|
|
R6236:Tlr2
|
UTSW |
3 |
83,745,438 (GRCm39) |
missense |
probably benign |
|
|
R6384:Tlr2
|
UTSW |
3 |
83,744,301 (GRCm39) |
missense |
probably benign |
|
|
R6564:Tlr2
|
UTSW |
3 |
83,745,002 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6725:Tlr2
|
UTSW |
3 |
83,745,603 (GRCm39) |
missense |
probably benign |
|
|
R7032:Tlr2
|
UTSW |
3 |
83,745,212 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7256:Tlr2
|
UTSW |
3 |
83,744,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7571:Tlr2
|
UTSW |
3 |
83,743,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7970:Tlr2
|
UTSW |
3 |
83,745,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8191:Tlr2
|
UTSW |
3 |
83,743,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8191:Tlr2
|
UTSW |
3 |
83,743,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Tlr2
|
UTSW |
3 |
83,745,373 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8218:Tlr2
|
UTSW |
3 |
83,745,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Tlr2
|
UTSW |
3 |
83,746,020 (GRCm39) |
missense |
probably benign |
|
|
R8894:Tlr2
|
UTSW |
3 |
83,744,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Tlr2
|
UTSW |
3 |
83,745,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9417:Tlr2
|
UTSW |
3 |
83,744,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Tlr2
|
UTSW |
3 |
83,748,445 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9648:Tlr2
|
UTSW |
3 |
83,745,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tlr2
|
UTSW |
3 |
83,743,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCGTCTCCATAGTAAAGG -3'
(R):5'- CCTCTCTTGACATCAGCAGG -3'
Sequencing Primer
(F):5'- CTCCATAGTAAAGGATAGGAGTTCGC -3'
(R):5'- GCAGGAACACTTTTCATCCGATG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation