Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02795:Lgr4'

359965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lgr4

Ensembl Gene

ENSMUSG00000050199

Gene Name

leucine-rich repeat-containing G protein-coupled receptor 4

Synonyms

A930009A08Rik, Gpr48, A330106J01Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

109917647-110014257 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 110008210 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046548] [ENSMUST00000111037]

Predicted Effect

probably benign
Transcript: ENSMUST00000046548

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	28	61	6.68e-6	SMART
LRR	55	79	1.49e1	SMART
LRR	80	103	1.99e0	SMART
LRR_TYP	104	127	2.75e-3	SMART
LRR_TYP	128	151	2.79e-4	SMART
LRR	152	175	2.54e1	SMART
LRR	176	199	4.65e-1	SMART
LRR_TYP	200	223	1.04e-3	SMART
LRR	224	246	6.4e0	SMART
LRR_TYP	247	270	5.99e-4	SMART
LRR	272	294	9.77e1	SMART
LRR	318	341	3e1	SMART
LRR	343	363	4.71e1	SMART
LRR	364	387	1.49e1	SMART
LRR_TYP	388	411	1.15e-5	SMART
LRR	412	435	3.98e1	SMART
low complexity region	500	516	N/A	INTRINSIC
Pfam:7tm_1	555	801	2.7e-10	PFAM
low complexity region	824	837	N/A	INTRINSIC
low complexity region	910	924	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111037

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	28	61	6.68e-6	SMART
LRR	55	79	9.77e1	SMART
LRR_TYP	80	103	2.75e-3	SMART
LRR_TYP	104	127	2.79e-4	SMART
LRR	128	151	2.54e1	SMART
LRR	152	175	4.65e-1	SMART
LRR_TYP	176	199	1.04e-3	SMART
LRR	200	222	6.4e0	SMART
LRR_TYP	223	246	5.99e-4	SMART
LRR	248	270	9.77e1	SMART
LRR	294	317	3e1	SMART
LRR	319	339	4.71e1	SMART
LRR	340	363	1.49e1	SMART
LRR_TYP	364	387	1.15e-5	SMART
LRR	388	411	3.98e1	SMART
low complexity region	476	492	N/A	INTRINSIC
Pfam:7tm_1	531	777	9.3e-17	PFAM
low complexity region	800	813	N/A	INTRINSIC
low complexity region	886	900	N/A	INTRINSIC

Coding Region Coverage

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 G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642		probably benign	Het
Acvr1	A	G	2: 58,462,952	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616		probably null	Het
Btnl9	A	T	11: 49,174,867		probably benign	Het
Dbx1	T	A	7: 49,636,577	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073		probably benign	Het
Dnmt1	T	C	9: 20,927,111	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673		probably benign	Het
Gpr45	C	T	1: 43,032,493	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553		probably benign	Het
Kdelc2	A	G	9: 53,392,105	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894		probably null	Het
Lrrc9	C	T	12: 72,478,768	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406		probably null	Het
Nectin1	A	G	9: 43,803,552	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490		probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083	V255F	probably benign	Het
St5	T	C	7: 109,556,364	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438	E273G	possibly damaging	Het

Other mutations in Lgr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:Lgr4	APN	2	110011290	missense	probably damaging	1.00
IGL02247:Lgr4	APN	2	110002501	missense	probably benign
IGL02247:Lgr4	APN	2	110008075	splice site	probably benign
IGL02302:Lgr4	APN	2	110002496	missense	probably damaging	0.99
IGL02309:Lgr4	APN	2	110012535	utr 3 prime	probably benign
IGL02511:Lgr4	APN	2	110011272	missense	probably benign	0.06
IGL02604:Lgr4	APN	2	110011313	missense	probably damaging	1.00
IGL02648:Lgr4	APN	2	110012373	missense	probably damaging	1.00
IGL02899:Lgr4	APN	2	109918253	missense	probably damaging	0.99
R0003:Lgr4	UTSW	2	109997665	critical splice donor site	probably null
R0200:Lgr4	UTSW	2	109970690	critical splice acceptor site	probably null
R0314:Lgr4	UTSW	2	109991093	splice site	probably benign
R0482:Lgr4	UTSW	2	110008092	missense	probably damaging	1.00
R0491:Lgr4	UTSW	2	110007281	splice site	probably benign
R0517:Lgr4	UTSW	2	110011320	missense	probably damaging	1.00
R0546:Lgr4	UTSW	2	109999421	missense	probably damaging	0.98
R0658:Lgr4	UTSW	2	110011787	missense	possibly damaging	0.83
R1367:Lgr4	UTSW	2	109991135	missense	probably damaging	0.98
R1864:Lgr4	UTSW	2	110011397	missense	possibly damaging	0.93
R1977:Lgr4	UTSW	2	110011928	missense	probably damaging	1.00
R2239:Lgr4	UTSW	2	110012393	missense	probably damaging	1.00
R2380:Lgr4	UTSW	2	110012393	missense	probably damaging	1.00
R2383:Lgr4	UTSW	2	110000615	missense	probably damaging	1.00
R2997:Lgr4	UTSW	2	110003517	missense	probably benign	0.30
R3707:Lgr4	UTSW	2	109970754	missense	probably damaging	0.99
R3803:Lgr4	UTSW	2	110008197	missense	probably benign	0.10
R3804:Lgr4	UTSW	2	110008197	missense	probably benign	0.10
R3843:Lgr4	UTSW	2	109996773	splice site	probably benign
R4030:Lgr4	UTSW	2	109989751	missense	probably benign	0.06
R4513:Lgr4	UTSW	2	110012016	missense	possibly damaging	0.93
R4777:Lgr4	UTSW	2	109996682	missense	probably damaging	0.98
R4912:Lgr4	UTSW	2	110006502	critical splice acceptor site	probably null
R4994:Lgr4	UTSW	2	110011938	missense	probably damaging	0.99
R5106:Lgr4	UTSW	2	109997595	missense	probably damaging	0.97
R5131:Lgr4	UTSW	2	110012333	missense	probably benign
R5152:Lgr4	UTSW	2	110000603	missense	probably damaging	1.00
R5753:Lgr4	UTSW	2	110002512	nonsense	probably null
R5860:Lgr4	UTSW	2	109991151	missense	probably damaging	0.96
R5914:Lgr4	UTSW	2	109918272	missense	possibly damaging	0.78
R6145:Lgr4	UTSW	2	110007243	nonsense	probably null
R6263:Lgr4	UTSW	2	110011898	missense	possibly damaging	0.95
R6400:Lgr4	UTSW	2	109991133	missense	probably damaging	0.98
R6924:Lgr4	UTSW	2	110012439	missense	probably damaging	1.00
R7171:Lgr4	UTSW	2	110000969	missense	probably benign	0.11
R7326:Lgr4	UTSW	2	109996629	nonsense	probably null
R7593:Lgr4	UTSW	2	109999456	missense	probably damaging	1.00
R7659:Lgr4	UTSW	2	109996766	missense	probably damaging	1.00
R7707:Lgr4	UTSW	2	109997591	critical splice acceptor site	probably null
R8062:Lgr4	UTSW	2	110000937	missense	probably damaging	1.00
X0053:Lgr4	UTSW	2	110011437	missense	possibly damaging	0.52

Posted On

2015-12-18