Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02511:Lgr4'

296527

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 #

IGL02511

Quality Score

Status

Chromosome

Chromosomal Location

109917647-110014257 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110011272 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 534 (Y534F)

Ref Sequence

ENSEMBL: ENSMUSP00000047325 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046548
AA Change: Y534F

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: Y534F

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
AA Change: Y510F

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: Y510F

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,861,766		probably benign	Het
Adam3	T	A	8: 24,695,176	D502V	probably damaging	Het
Adss	T	C	1: 177,771,134		probably benign	Het
Ankrd36	T	A	11: 5,660,845		probably null	Het
Atf6b	T	C	17: 34,654,641	S692P	probably benign	Het
Cap2	T	C	13: 46,531,022	M1T	probably null	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cntn1	A	T	15: 92,216,385		probably benign	Het
Copg2	A	T	6: 30,858,822	F218Y	probably benign	Het
Dll4	G	A	2: 119,326,466	G73E	probably damaging	Het
Dzip3	T	C	16: 48,936,980	M897V	possibly damaging	Het
Ehbp1	T	C	11: 22,089,653	R816G	probably damaging	Het
Enoph1	T	C	5: 100,061,035	L83P	probably benign	Het
Enpep	A	G	3: 129,321,410	S238P	probably damaging	Het
Fermt1	A	C	2: 132,933,166		probably benign	Het
Gm6619	T	A	6: 131,490,367	I65K	possibly damaging	Het
Krtap31-2	T	A	11: 99,936,692	C117S	possibly damaging	Het
Ksr1	T	C	11: 79,045,220	D106G	possibly damaging	Het
Mamdc2	T	C	19: 23,378,731	T118A	probably benign	Het
Myo10	T	A	15: 25,723,889	I170N	probably damaging	Het
Myom2	T	C	8: 15,065,743	S53P	probably benign	Het
Npl	T	A	1: 153,515,481	D176V	probably damaging	Het
Nrm	T	C	17: 35,861,424	S14P	probably damaging	Het
Olfr1043	A	G	2: 86,162,019	I310T	probably benign	Het
Olfr111	A	G	17: 37,529,979	M1V	probably null	Het
Olfr495	T	A	7: 108,396,058	F313I	probably benign	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Pard3	A	T	8: 127,161,320		probably benign	Het
Pdzd4	T	A	X: 73,794,600	M701L	probably damaging	Het
Pkhd1	A	T	1: 20,073,507	V3865E	possibly damaging	Het
Plxna3	C	A	X: 74,335,385	Q712K	probably damaging	Het
Pon1	A	G	6: 5,193,724	L9P	probably damaging	Het
Pygm	A	T	19: 6,385,688	I83F	probably benign	Het
Scyl2	A	G	10: 89,640,819	S815P	probably benign	Het
Serpina1a	C	T	12: 103,855,967	W212*	probably null	Het
Slc38a9	C	A	13: 112,698,007	D239E	possibly damaging	Het
Smad6	A	G	9: 63,953,577	F479L	probably damaging	Het
Smarcc2	T	C	10: 128,461,382	S48P	probably damaging	Het
Ttn	T	A	2: 76,937,690	M3022L	unknown	Het
Tulp1	C	A	17: 28,356,168	R441L	probably benign	Het
Ugt1a10	T	C	1: 88,055,863	F128L	probably damaging	Het
Ulk4	A	G	9: 121,188,354	V686A	probably damaging	Het
Ush2a	T	C	1: 188,743,687		probably null	Het
Ushbp1	T	C	8: 71,390,937	M286V	probably null	Het
Usp51	T	G	X: 153,008,730	I440R	probably damaging	Het
Wee1	G	T	7: 110,139,276	R532L	possibly damaging	Het
Zfhx4	A	G	3: 5,399,183	E1467G	probably damaging	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het
Zfp551	A	G	7: 12,416,675	V269A	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
IGL02604:Lgr4	APN	2	110011313	missense	probably damaging	1.00
IGL02648:Lgr4	APN	2	110012373	missense	probably damaging	1.00
IGL02795:Lgr4	APN	2	110008210	splice site	probably benign
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
X0053:Lgr4	UTSW	2	110011437	missense	possibly damaging	0.52

Posted On

2015-04-16