Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Tlr9'

573038

Institutional Source

Beutler Lab

Gene Symbol

Tlr9

Ensembl Gene

ENSMUSG00000045322

Gene Name

toll-like receptor 9

Synonyms

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

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

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106099797-106104075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106102463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 585 (H585N)

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: H585N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: H585N

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	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
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'- CATTGCACAGGCTGTCAATG -3'
(R):5'- GCAGGTTATTTTGAGACAGGTCC -3'

Sequencing Primer
(F):5'- ACTAATCTGCAGGTGCTGGAC -3'
(R):5'- TTTGAGACAGGTCCAGCTTCAGC -3'

Posted On

2019-09-13