Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Tlr9'

519556

Institutional Source

Beutler Lab

Gene Symbol

Tlr9

Ensembl Gene

ENSMUSG00000045322

Gene Name

toll-like receptor 9

Synonyms

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106099797-106104075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106101198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 163 (L163H)

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

probably damaging
Transcript: ENSMUST00000062241
AA Change: L163H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: L163H

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Epn2	A	T	11: 61,424,467 (GRCm39)	M250K	probably damaging	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239 (GRCm39)	R708G	probably benign	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Myog	G	A	1: 134,218,226 (GRCm39)	D145N	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Nlrp6	T	A	7: 140,507,422 (GRCm39)	I896K	possibly damaging	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,689,150 (GRCm39)	M981T	probably benign	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,789,514 (GRCm39)	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	probably damaging	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
R5572:Tlr9	UTSW	9	106,102,836 (GRCm39)	missense	possibly damaging	0.47
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
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'- CTGAACCTCAAGTGGAACTGTC -3'
(R):5'- AGATTGGCCAGGTCTTCAGG -3'

Sequencing Primer
(F):5'- GAACTGTCCACCCACTGG -3'
(R):5'- CCCCAGCTTGACAATGAGGTTATAG -3'

Posted On

2018-05-24