Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Tlr9'

699474

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 #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106099797-106104075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106101972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

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: D421G

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

SMART Domains

Protein: ENSMUSP00000082207
Gene: ENSMUSG00000045322
AA Change: D421G

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: 99.5%
20x: 98.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,828 (GRCm39)	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,368,131 (GRCm39)	R116*	probably null	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,943 (GRCm39)	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,528,818 (GRCm39)	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,552,310 (GRCm39)	F1351L	probably damaging	Het
Atg7	C	T	6: 114,672,588 (GRCm39)	T267I	possibly damaging	Het
Bace2	A	G	16: 97,209,692 (GRCm39)	K202R	probably benign	Het
Bccip	G	T	7: 133,311,249 (GRCm39)	V55L	probably benign	Het
Bpifa1	T	A	2: 153,988,052 (GRCm39)	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,777,430 (GRCm39)	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,605,521 (GRCm39)	S480A	probably benign	Het
Cenpe	T	C	3: 134,935,839 (GRCm39)	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,767,977 (GRCm39)	M185R	probably damaging	Het
Chd5	G	T	4: 152,456,122 (GRCm39)	M930I	probably damaging	Het
Clstn2	G	T	9: 97,343,395 (GRCm39)	T684K	probably benign	Het
Col4a2	A	G	8: 11,491,943 (GRCm39)	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,636,850 (GRCm39)	H141R	probably benign	Het
Dcc	A	G	18: 71,553,433 (GRCm39)	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,587,685 (GRCm39)	C430*	probably null	Het
Dgki	G	A	6: 37,273,615 (GRCm39)	T12M	probably benign	Het
Dock6	T	C	9: 21,721,153 (GRCm39)	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,783,028 (GRCm39)	R9H	probably damaging	Het
Fstl5	A	G	3: 76,569,114 (GRCm39)	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,324,959 (GRCm39)	Y44F	probably benign	Het
Gpr15lg	A	G	14: 36,829,352 (GRCm39)	S44P	probably damaging	Het
Gtf3c2	A	C	5: 31,326,401 (GRCm39)	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,287,726 (GRCm39)	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,166,695 (GRCm39)	C167*	probably null	Het
Khdc4	T	C	3: 88,593,853 (GRCm39)	S81P	probably benign	Het
Kpna2	A	G	11: 106,880,158 (GRCm39)	S497P	probably damaging	Het
Krt77	T	A	15: 101,774,064 (GRCm39)	T197S	probably damaging	Het
Krtap6-5	T	C	16: 88,844,655 (GRCm39)	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,799,133 (GRCm39)	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,596 (GRCm39)	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,403,427 (GRCm39)	V867A	probably benign	Het
Mtcl1	T	A	17: 66,650,879 (GRCm39)	M1529L	probably benign	Het
Mthfr	A	T	4: 148,132,626 (GRCm39)	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,565,744 (GRCm39)	N360K	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Or1e33	A	T	11: 73,738,108 (GRCm39)	V281E	probably damaging	Het
Or4p8	T	C	2: 88,727,255 (GRCm39)	S229G	probably benign	Het
Or5an1b	A	T	19: 12,299,336 (GRCm39)	M285K	probably damaging	Het
Or5m11	T	A	2: 85,782,185 (GRCm39)	Y259*	probably null	Het
P2rx5	A	T	11: 73,062,655 (GRCm39)	T455S	probably damaging	Het
Palld	A	T	8: 61,969,591 (GRCm39)	F1244L	unknown	Het
Pbld1	A	G	10: 62,907,829 (GRCm39)	T125A		Het
Pde3b	G	A	7: 114,014,697 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,019,188 (GRCm39)	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,100,453 (GRCm39)	R626S	possibly damaging	Het
Postn	A	G	3: 54,282,515 (GRCm39)	E492G	possibly damaging	Het
Prph2	A	G	17: 47,230,818 (GRCm39)	D237G	probably damaging	Het
Psmd4	T	C	3: 94,942,604 (GRCm39)	H105R	probably damaging	Het
Pygl	T	C	12: 70,242,401 (GRCm39)	N685S	probably damaging	Het
Rp1	A	G	1: 4,315,266 (GRCm39)	F502S	unknown	Het
Sik1	T	C	17: 32,066,167 (GRCm39)	I607V	probably benign	Het
Slc26a3	T	A	12: 31,513,470 (GRCm39)	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,181,910 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,119,367 (GRCm39)	L226P	probably damaging	Het
Tab1	G	A	15: 80,034,754 (GRCm39)	V180I	probably benign	Het
Tacc2	T	G	7: 130,226,058 (GRCm39)	S914R	probably damaging	Het
Tacc2	C	T	7: 130,226,209 (GRCm39)	R965C	probably benign	Het
Tmem181a	T	C	17: 6,307,265 (GRCm39)	L16P	probably damaging	Het
Trim58	A	T	11: 58,542,075 (GRCm39)	H345L	probably damaging	Het
Ttc13	G	A	8: 125,400,290 (GRCm39)	R688C	probably benign	Het
Ube2o	C	A	11: 116,433,664 (GRCm39)	V685L	probably damaging	Het
Uso1	A	G	5: 92,335,173 (GRCm39)	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,411,721 (GRCm39)	Y282*	probably null	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
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'- AGAAGGTATCCTTTGCCCGC -3'
(R):5'- AGGTCCATGGTGAACTTGAAG -3'

Sequencing Primer
(F):5'- TAAGAACCTGGTGTCACTGC -3'
(R):5'- GAAGTTCTTACACCTGTCCATGAAG -3'

Posted On

2022-02-07