Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Tlr9'

700026

Institutional Source

Beutler Lab

Gene Symbol

Tlr9

Ensembl Gene

ENSMUSG00000045322

Gene Name

toll-like receptor 9

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106099797-106104075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106102752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 681 (E681V)

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: E681V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: E681V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cd109	A	T	9: 78,577,042 (GRCm39)	I580F	possibly damaging	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	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
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
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
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'- TTCTTCCAAGGCCTGAGTGG -3'
(R):5'- ACGTCTAGAACTGTCAGGTTC -3'

Sequencing Primer
(F):5'- TGAGTGGCCTGCTGAAGC -3'
(R):5'- TCAGGTTCATCACAATGGGC -3'

Posted On

2022-02-07