Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Tlr7'

460132

Institutional Source

Beutler Lab

Gene Symbol

Tlr7

Ensembl Gene

ENSMUSG00000044583

Gene Name

toll-like receptor 7

Synonyms

RP23-139P21.3

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R5929 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

167304929-167330558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 167306882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 536 (G536V)

Ref Sequence

ENSEMBL: ENSMUSP00000107789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060719] [ENSMUST00000112161] [ENSMUST00000112164] [ENSMUST00000137492] [ENSMUST00000145284]

AlphaFold

P58681

Predicted Effect

probably damaging
Transcript: ENSMUST00000060719
AA Change: G536V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061853
Gene: ENSMUSG00000044583
AA Change: G536V

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
Pfam:LRR_7	676	692	7.2e-2	PFAM
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	894	1033	4.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112161
AA Change: G536V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107787
Gene: ENSMUSG00000044583
AA Change: G536V

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
Pfam:LRR_7	676	692	7.2e-2	PFAM
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	894	1033	4.7e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112164
AA Change: G536V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107789
Gene: ENSMUSG00000044583
AA Change: G536V

Domain	Start	End	E-Value	Type
LRRNT	35	69	5.03e-1	SMART
LRR	126	149	2.45e0	SMART
LRR	203	226	9.75e0	SMART
LRR_TYP	289	312	1.28e-3	SMART
LRR	313	337	2.08e1	SMART
LRR	396	419	9.22e0	SMART
LRR	497	516	1.09e2	SMART
LRR	542	565	4.97e0	SMART
LRR	596	619	2.76e2	SMART
LRR_TYP	650	673	1.72e-4	SMART
LRR_TYP	699	722	1.58e-3	SMART
LRR	724	746	8.26e1	SMART
LRR	749	770	2.15e2	SMART
LRRCT	784	835	1.56e-3	SMART
transmembrane domain	851	873	N/A	INTRINSIC
Pfam:TIR	891	1049	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137492

Predicted Effect

probably benign
Transcript: ENSMUST00000145284

Meta Mutation Damage Score

0.9224

Coding Region Coverage

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

Validation Efficiency

99% (84/85)

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 predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI481877	G	T	4: 59,092,497	S228*	probably null	Het
Ang4	C	T	14: 51,764,251	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,769,633	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,117,877	E137G	possibly damaging	Het
Car6	T	C	4: 150,196,135	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993	L463Q	probably damaging	Het
Casz1	C	T	4: 148,938,696	S400L	probably damaging	Het
Casz1	T	A	4: 148,938,969	L491Q	probably damaging	Het
Catsperd	A	T	17: 56,652,493	H311L	probably benign	Het
Ccdc151	T	C	9: 22,002,422	E18G	possibly damaging	Het
Ccdc83	A	G	7: 90,236,316		probably benign	Het
Cd163	G	A	6: 124,326,609		probably null	Het
Cd244	A	T	1: 171,559,367	R15W	probably damaging	Het
Ces3b	A	G	8: 105,093,165	K490R	probably damaging	Het
Chordc1	T	C	9: 18,304,362	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,216,788	T1140S	probably benign	Het
Col6a4	T	C	9: 106,063,044	E1229G	probably benign	Het
Cr2	A	G	1: 195,171,111	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,143,653	H327Q	possibly damaging	Het
Depdc5	G	T	5: 32,975,506	E646*	probably null	Het
Dnah5	G	A	15: 28,311,207	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,208	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,546,855	Y39H	probably damaging	Het
Dsp	A	T	13: 38,195,434	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,551,461	W447R	probably damaging	Het
Gabra6	T	A	11: 42,317,562	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,946,599	V32D	probably damaging	Het
Ginm1	G	T	10: 7,774,050	L160I	probably benign	Het
Gm19345	A	G	7: 19,857,822	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,373,667	R268*	probably null	Het
Hacl1	T	A	14: 31,616,388	M411L	probably benign	Het
Hdac3	C	T	18: 37,941,341		probably benign	Het
Hmcn1	C	A	1: 150,577,296	E5423*	probably null	Het
Ipo4	T	C	14: 55,631,189	H454R	probably benign	Het
Itpr1	A	T	6: 108,423,336	I1693F	probably benign	Het
Kif12	T	C	4: 63,168,517	T361A	probably damaging	Het
Kif1bp	A	T	10: 62,559,402	I487N	probably damaging	Het
Kif21b	A	G	1: 136,151,207	E431G	probably damaging	Het
Kif27	C	T	13: 58,343,970	A452T	probably benign	Het
Lhcgr	A	T	17: 88,743,008	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,812,606	K294I	probably damaging	Het
Mapk3	A	C	7: 126,759,858		probably benign	Het
Mogat1	A	T	1: 78,523,733	I145F	probably benign	Het
Mtmr7	T	C	8: 40,558,358		probably null	Het
Ndufaf6	T	C	4: 11,051,150	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,827,359	Q117K	probably damaging	Het
Olfm3	T	G	3: 115,101,880	I137S	probably damaging	Het
Olfr268-ps1	T	A	2: 111,844,286		noncoding transcript	Het
Otub1	G	A	19: 7,199,985	S99F	probably damaging	Het
Padi2	T	G	4: 140,944,537		probably null	Het
Paip1	C	T	13: 119,445,790	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,004,800	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Phkb	A	G	8: 85,970,914	I451V	probably benign	Het
Plcg1	T	A	2: 160,753,602		probably null	Het
Prg4	A	G	1: 150,454,129	F722S	probably benign	Het
Prss3	T	C	6: 41,376,804		probably null	Het
Psmd3	C	T	11: 98,695,596	P530L	probably damaging	Het
Rims1	A	T	1: 22,468,241	D609E	probably damaging	Het
Sema3f	T	C	9: 107,692,193	Y82C	probably damaging	Het
Slc35b2	G	T	17: 45,566,661	W238L	probably benign	Het
Sox12	T	C	2: 152,397,388	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,742,311	D13E	probably damaging	Het
Tspan12	A	G	6: 21,772,747	S220P	possibly damaging	Het
Utp11	T	C	4: 124,682,243	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,806,966	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,013,489	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,922,455	F548I	probably damaging	Het
Zufsp	A	T	10: 33,949,047	Y146*	probably null	Het

Other mutations in Tlr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Tlr7	APN	X	167308475	missense	possibly damaging	0.94
IGL01064:Tlr7	APN	X	167308211	missense	probably damaging	1.00
IGL02940:Tlr7	APN	X	167307834	missense	probably benign	0.02
IGL03064:Tlr7	APN	X	167306207	missense	possibly damaging	0.89
IGL03298:Tlr7	APN	X	167306707	missense	probably benign	0.45
rsq1	UTSW	X	167308286	missense	probably damaging	1.00
rsq2	UTSW	X	167307945	missense	probably damaging	1.00
rsq3	UTSW	X	167307945	missense	probably damaging	1.00
R1400:Tlr7	UTSW	X	167307849	missense	probably damaging	1.00
R1883:Tlr7	UTSW	X	167306472	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ATGAGTTTGTCCAGAAGCCG -3'
(R):5'- AATATGCACGGAGCTGCAG -3'

Sequencing Primer
(F):5'- CCAGAAGCCGTAATTTCTTGG -3'
(R):5'- CGGAGCTGCAGGTTCAAAAAC -3'

Posted On

2017-02-28