Mutagenetix > Incidental Mutation

Incidental Mutation 'R6393:Tlr9'

515888

Institutional Source

Beutler Lab

Gene Symbol

Tlr9

Ensembl Gene

ENSMUSG00000045322

Gene Name

toll-like receptor 9

Synonyms

MMRRC Submission

044542-MU

Accession Numbers

Essential gene?

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

Stock #

R6393 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106099797-106104075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106102136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 476 (F476L)

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: F476L

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

SMART Domains

Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: F476L

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: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,690 (GRCm39)	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,721 (GRCm39)	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,894 (GRCm39)		probably null	Het
Akirin1	T	G	4: 123,637,324 (GRCm39)	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,723,406 (GRCm39)	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,354,498 (GRCm39)	I804V	probably damaging	Het
Arhgef28	A	T	13: 98,130,527 (GRCm39)	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 60,011,204 (GRCm39)	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Ccdc80	T	A	16: 44,916,828 (GRCm39)	V528D	possibly damaging	Het
Chd6	A	G	2: 160,821,407 (GRCm39)	Y1296H	probably damaging	Het
Chst13	G	A	6: 90,302,063 (GRCm39)	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,753,741 (GRCm39)	F207L	probably damaging	Het
Col12a1	T	C	9: 79,562,767 (GRCm39)	T1772A	probably damaging	Het
Cubn	T	C	2: 13,360,491 (GRCm39)	T1744A	probably benign	Het
Dchs2	A	G	3: 83,037,218 (GRCm39)	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,133,384 (GRCm39)	E6V	possibly damaging	Het
Dock5	G	A	14: 68,060,051 (GRCm39)	P463S	probably benign	Het
Eif4a3l1	A	G	6: 136,305,596 (GRCm39)	K19R	probably benign	Het
Fancd2	T	A	6: 113,555,374 (GRCm39)	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,355,634 (GRCm39)	G449E	probably damaging	Het
Frem2	G	T	3: 53,493,061 (GRCm39)	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,678,037 (GRCm39)	V187L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,838,142 (GRCm39)		probably null	Het
Htr1b	T	A	9: 81,513,810 (GRCm39)	I266F	probably benign	Het
Jakmip3	T	C	7: 138,620,900 (GRCm39)	I305T	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kifc5b	T	C	17: 27,140,816 (GRCm39)	C97R	probably benign	Het
Klhl30	A	T	1: 91,288,912 (GRCm39)	H557L	probably damaging	Het
Lama3	T	C	18: 12,612,813 (GRCm39)	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,459,292 (GRCm39)	L246P	probably damaging	Het
M6pr	T	C	6: 122,292,339 (GRCm39)	L178P	possibly damaging	Het
Med17	A	G	9: 15,185,879 (GRCm39)	S212P	probably damaging	Het
Med23	T	A	10: 24,749,374 (GRCm39)	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,356,750 (GRCm39)	T341P	probably damaging	Het
Mre11a	A	G	9: 14,696,805 (GRCm39)	M1V	probably null	Het
Mrpl17	T	C	7: 105,459,122 (GRCm39)	H158R	probably benign	Het
Mstn	A	G	1: 53,105,648 (GRCm39)	Q330R	probably benign	Het
Muc16	T	A	9: 18,558,695 (GRCm39)	K2533*	probably null	Het
N4bp2	T	C	5: 65,948,344 (GRCm39)	S325P	possibly damaging	Het
Nadk	A	G	4: 155,673,808 (GRCm39)	Y399C	possibly damaging	Het
Nbea	A	C	3: 55,998,540 (GRCm39)	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,328,181 (GRCm39)	F775L	probably benign	Het
Ndufa11	C	A	17: 57,028,331 (GRCm39)	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851 (GRCm39)	Y175C	possibly damaging	Het
Or10q3	A	T	19: 11,848,091 (GRCm39)	L163Q	probably damaging	Het
Or12e9	A	G	2: 87,201,909 (GRCm39)	N11S	probably damaging	Het
Pcsk6	T	C	7: 65,618,762 (GRCm39)	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,304,793 (GRCm39)	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,414,698 (GRCm39)	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rbm46	G	A	3: 82,771,262 (GRCm39)	T451M	probably benign	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Rpl7l1	T	C	17: 47,093,548 (GRCm39)	E4G	probably benign	Het
Rptn	A	G	3: 93,304,506 (GRCm39)	E613G	probably benign	Het
Sbk2	T	C	7: 4,960,621 (GRCm39)	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,693,950 (GRCm39)	A162T	probably benign	Het
Slc30a4	A	G	2: 122,527,966 (GRCm39)	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,547,262 (GRCm39)	F361L	probably benign	Het
Slc6a13	T	C	6: 121,313,801 (GRCm39)	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 72,957,247 (GRCm39)	K508N	possibly damaging	Het
Stard4	T	C	18: 33,338,278 (GRCm39)	D144G	probably benign	Het
Tshz1	A	T	18: 84,031,345 (GRCm39)	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,246,304 (GRCm39)	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,293,112 (GRCm39)	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,998,716 (GRCm39)	L34P	probably damaging	Het
Xpo4	A	G	14: 57,875,770 (GRCm39)	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,712,177 (GRCm39)	H268L	probably null	Het
Zfp865	T	C	7: 5,033,065 (GRCm39)	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,634,828 (GRCm39)	I472V	possibly 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
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'- GCACAGCTCAGCATCTTTGG -3'
(R):5'- CCAGTGGTACAAGTCCAGTTTG -3'

Sequencing Primer
(F):5'- AGCATCTTTGGTACCTTCCGAG -3'
(R):5'- ACAAGTCCAGTTTGTTATGGGACAG -3'

Posted On

2018-05-04