Mutagenetix > Incidental Mutation

Incidental Mutation 'R1131:Lgr6'

94577

Institutional Source

Beutler Lab

Gene Symbol

Lgr6

Ensembl Gene

ENSMUSG00000042793

Gene Name

leucine-rich repeat-containing G protein-coupled receptor 6

Synonyms

A530037C04Rik

MMRRC Submission

039204-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134911039-135033014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134915042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 569 (R569W)

Ref Sequence

ENSEMBL: ENSMUSP00000122334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044828] [ENSMUST00000137968]

AlphaFold

Q3UVD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000044828
AA Change: R846W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035444
Gene: ENSMUSG00000042793
AA Change: R846W

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
LRRNT	34	70	5.19e-3	SMART
LRR	64	88	1.03e1	SMART
LRR_TYP	89	112	6.52e-5	SMART
LRR_TYP	113	136	2.71e-2	SMART
LRR_TYP	137	160	4.79e-3	SMART
LRR_TYP	161	184	1.58e-3	SMART
LRR_TYP	185	208	2.36e-2	SMART
LRR_TYP	209	232	3.39e-3	SMART
LRR	233	255	8.97e0	SMART
LRR_TYP	256	279	1.36e-2	SMART
Blast:LRR	281	303	6e-7	BLAST
LRR	327	350	9.24e1	SMART
LRR	351	373	1.41e0	SMART
LRR	374	396	4.84e1	SMART
LRR_TYP	397	420	4.54e-4	SMART
LRR_TYP	421	444	7.15e-2	SMART
transmembrane domain	568	590	N/A	INTRINSIC
transmembrane domain	599	621	N/A	INTRINSIC
transmembrane domain	643	665	N/A	INTRINSIC
transmembrane domain	686	708	N/A	INTRINSIC
transmembrane domain	728	750	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	808	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137968
AA Change: R569W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122334
Gene: ENSMUSG00000042793
AA Change: R569W

Domain	Start	End	E-Value	Type
Blast:LRR	4	26	2e-7	BLAST
LRR	50	73	9.24e1	SMART
LRR	74	96	1.41e0	SMART
LRR	97	119	4.84e1	SMART
LRR_TYP	120	143	4.54e-4	SMART
LRR_TYP	144	167	7.15e-2	SMART
Pfam:7tm_1	301	550	3.6e-9	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter/null allele are viable and fertile with no apparent abnormal phenotype. Similarly, mice homozygous for a knock-in allele are healthy and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	G	T	3: 146,356,837 (GRCm39)	H24N	probably damaging	Het
Ano7	T	C	1: 93,329,498 (GRCm39)	F723L	probably benign	Het
Clec9a	T	G	6: 129,387,278 (GRCm39)	C44W	probably damaging	Het
Commd7	T	A	2: 153,464,047 (GRCm39)	Q44L	probably benign	Het
Ddias	A	T	7: 92,509,094 (GRCm39)	S274T	possibly damaging	Het
Fnip1	A	T	11: 54,384,129 (GRCm39)	E342V	possibly damaging	Het
Gata4	A	G	14: 63,442,189 (GRCm39)	F210S	possibly damaging	Het
Ggt6	A	G	11: 72,326,506 (GRCm39)	E21G	possibly damaging	Het
Gzf1	A	G	2: 148,532,787 (GRCm39)	N647S	probably benign	Het
Hnrnpk	T	C	13: 58,541,979 (GRCm39)		probably null	Het
Mug1	T	A	6: 121,838,144 (GRCm39)	I458N	probably benign	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Or51a25	C	A	7: 102,372,887 (GRCm39)	R270L	probably damaging	Het
Spta1	T	A	1: 174,013,213 (GRCm39)	S375T	probably damaging	Het
Tanc2	G	A	11: 105,725,828 (GRCm39)	E331K	probably damaging	Het
Tcirg1	A	G	19: 3,946,301 (GRCm39)	S799P	probably damaging	Het
Tnrc18	T	A	5: 142,772,963 (GRCm39)	D439V	unknown	Het
Tnrc6b	A	T	15: 80,778,654 (GRCm39)	Q1209L	possibly damaging	Het
Trim24	T	A	6: 37,934,717 (GRCm39)	C811S	probably damaging	Het
Ttc7b	A	T	12: 100,348,378 (GRCm39)		probably null	Het
Vmn1r42	A	T	6: 89,822,551 (GRCm39)	F6Y	possibly damaging	Het

Other mutations in Lgr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Lgr6	APN	1	134,929,429 (GRCm39)	splice site	probably benign
IGL02483:Lgr6	APN	1	134,929,429 (GRCm39)	splice site	probably benign
IGL03270:Lgr6	APN	1	134,925,442 (GRCm39)	missense	probably damaging	1.00
R0002:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0294:Lgr6	UTSW	1	135,032,799 (GRCm39)	missense	unknown
R0294:Lgr6	UTSW	1	134,915,629 (GRCm39)	missense	probably damaging	0.99
R0361:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0390:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0731:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0734:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0741:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0742:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0765:Lgr6	UTSW	1	134,921,624 (GRCm39)	missense	probably benign	0.04
R0903:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0904:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0905:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0906:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0907:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0908:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R0967:Lgr6	UTSW	1	134,921,750 (GRCm39)	missense	probably damaging	1.00
R1078:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R1079:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R1440:Lgr6	UTSW	1	134,915,210 (GRCm39)	missense	probably damaging	1.00
R1533:Lgr6	UTSW	1	135,032,670 (GRCm39)	missense	possibly damaging	0.66
R1728:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1728:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1728:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1729:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1729:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1729:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1729:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1730:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1730:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1730:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1730:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1739:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1739:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1739:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1739:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1762:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1762:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1762:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1762:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1782:Lgr6	UTSW	1	134,915,717 (GRCm39)	missense	probably damaging	0.98
R1783:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1783:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1783:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1783:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1784:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1784:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1784:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1784:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R1785:Lgr6	UTSW	1	134,915,747 (GRCm39)	missense	probably benign
R1785:Lgr6	UTSW	1	134,914,826 (GRCm39)	missense	probably benign	0.00
R1785:Lgr6	UTSW	1	134,931,214 (GRCm39)	missense	probably benign
R1785:Lgr6	UTSW	1	134,918,373 (GRCm39)	missense	probably benign	0.18
R2020:Lgr6	UTSW	1	135,003,013 (GRCm39)	missense	probably damaging	1.00
R3104:Lgr6	UTSW	1	134,928,210 (GRCm39)	splice site	probably null
R4629:Lgr6	UTSW	1	135,032,670 (GRCm39)	missense	probably damaging	0.99
R4792:Lgr6	UTSW	1	134,949,544 (GRCm39)	missense	probably benign	0.03
R5001:Lgr6	UTSW	1	134,918,370 (GRCm39)	missense	probably benign	0.01
R5191:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5194:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5195:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5196:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5197:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5228:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5230:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5243:Lgr6	UTSW	1	135,037,010 (GRCm39)	unclassified	probably benign
R5299:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5300:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5417:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5419:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5601:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5603:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5636:Lgr6	UTSW	1	134,914,816 (GRCm39)	missense	probably benign	0.28
R5699:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5748:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5767:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5825:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R5971:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6078:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6079:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6138:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6258:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6259:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6260:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6740:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6871:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00
R6984:Lgr6	UTSW	1	134,915,740 (GRCm39)	missense	possibly damaging	0.54
R6986:Lgr6	UTSW	1	134,921,694 (GRCm39)	missense	possibly damaging	0.80
R7233:Lgr6	UTSW	1	134,928,214 (GRCm39)	critical splice donor site	probably null
R7699:Lgr6	UTSW	1	134,923,770 (GRCm39)	missense	probably damaging	1.00
R7700:Lgr6	UTSW	1	134,923,770 (GRCm39)	missense	probably damaging	1.00
R7734:Lgr6	UTSW	1	134,930,981 (GRCm39)	missense	probably damaging	1.00
R7849:Lgr6	UTSW	1	134,915,419 (GRCm39)	missense	probably damaging	1.00
R7970:Lgr6	UTSW	1	134,921,723 (GRCm39)	missense	probably benign
R8068:Lgr6	UTSW	1	134,991,402 (GRCm39)	missense	probably benign	0.00
R8252:Lgr6	UTSW	1	134,931,215 (GRCm39)	missense	probably null	0.78
R8516:Lgr6	UTSW	1	135,003,021 (GRCm39)	missense	probably damaging	1.00
R8771:Lgr6	UTSW	1	134,933,429 (GRCm39)	nonsense	probably null
R8858:Lgr6	UTSW	1	134,923,849 (GRCm39)	critical splice acceptor site	probably null
R8885:Lgr6	UTSW	1	134,915,342 (GRCm39)	missense	probably benign	0.00
R9014:Lgr6	UTSW	1	134,931,248 (GRCm39)	missense	probably damaging	1.00
R9277:Lgr6	UTSW	1	134,915,217 (GRCm39)	nonsense	probably null
R9660:Lgr6	UTSW	1	134,915,245 (GRCm39)	missense	probably damaging	1.00
R9728:Lgr6	UTSW	1	134,915,245 (GRCm39)	missense	probably damaging	1.00
Z1088:Lgr6	UTSW	1	134,915,809 (GRCm39)	missense	possibly damaging	0.89
Z1191:Lgr6	UTSW	1	134,921,748 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAAATGGTTTCCCTCCAGCCTG -3'
(R):5'- CATCAAGCTCTACTGTGACCTGCC -3'

Sequencing Primer
(F):5'- TCCCTCCAGCCTGGTAGC -3'
(R):5'- GCAGATGGCCTCCTCTACTG -3'

Posted On

2014-01-05