Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Lgr6'

65410

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

038596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134983301-135105276 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134994010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 199 (A199T)

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: A476T

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

SMART Domains

Protein: ENSMUSP00000035444
Gene: ENSMUSG00000042793
AA Change: A476T

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: A199T

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

SMART Domains

Protein: ENSMUSP00000122334
Gene: ENSMUSG00000042793
AA Change: A199T

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

Meta Mutation Damage Score

0.1650

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421		probably benign	Het
Cand2	A	G	6: 115,774,653	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192		probably benign	Het
Cep152	T	C	2: 125,576,869		probably benign	Het
Cep290	A	G	10: 100,508,758	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655		probably benign	Het
Csmd2	T	C	4: 128,133,673		probably benign	Het
Cthrc1	A	T	15: 39,086,764	*172L	probably null	Het
Cul9	A	T	17: 46,528,589	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304		probably benign	Het
Dhx58	A	T	11: 100,699,264	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355		probably benign	Het
Gm13084	T	A	4: 143,811,699	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381		probably benign	Het
Grin2a	C	A	16: 9,579,585	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990		probably benign	Het
Hsd3b1	A	T	3: 98,853,039	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094		probably null	Het
Igf2bp2	A	G	16: 22,081,801	F129L	possibly damaging	Het
Kirrel3	T	A	9: 35,020,163	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412	I204T	probably damaging	Het
Kpna6	A	T	4: 129,657,804	S65R	possibly damaging	Het
Lama3	A	T	18: 12,407,563	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107		probably null	Het
Lyzl1	A	T	18: 4,169,175	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315	L366P	probably damaging	Het
Mef2a	A	G	7: 67,251,724	M100T	probably damaging	Het
Mettl13	G	A	1: 162,538,889	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729		probably benign	Het
Nfrkb	A	G	9: 31,388,897		probably benign	Het
Nlrp4d	T	C	7: 10,388,778	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297		probably benign	Het
Ofcc1	T	A	13: 40,015,313	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299	I150V	probably benign	Het
Optn	A	G	2: 5,046,195	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613		probably null	Het
Pde5a	T	G	3: 122,835,583	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419		probably null	Het
Pih1d2	T	A	9: 50,621,046	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360		probably benign	Het
Prdm10	G	A	9: 31,349,268		probably null	Het
Prex2	T	A	1: 11,089,706		probably null	Het
Prss56	T	G	1: 87,184,730		probably null	Het
Prtg	A	G	9: 72,844,958	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573		probably benign	Het
Sptlc1	T	C	13: 53,337,612	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708	N31S	probably benign	Het
Tjp1	T	C	7: 65,314,990	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602		probably benign	Het
Ubr5	G	T	15: 38,030,672	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148	H301L	probably benign	Het
Upf2	T	A	2: 6,018,894		probably benign	Het
Utrn	T	C	10: 12,710,060	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181	D734G	probably damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vwf	T	A	6: 125,626,361	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213		probably benign	Het
Zfp180	C	T	7: 24,104,707	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225	Y279N	probably benign	Het

Other mutations in Lgr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Lgr6	APN	1	135001691	splice site	probably benign
IGL02483:Lgr6	APN	1	135001691	splice site	probably benign
IGL03270:Lgr6	APN	1	134997704	missense	probably damaging	1.00
R0002:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0294:Lgr6	UTSW	1	134987891	missense	probably damaging	0.99
R0294:Lgr6	UTSW	1	135105061	missense	unknown
R0361:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0731:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0734:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0741:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0742:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0765:Lgr6	UTSW	1	134993886	missense	probably benign	0.04
R0903:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0904:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0905:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0906:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0907:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0908:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R0967:Lgr6	UTSW	1	134994012	missense	probably damaging	1.00
R1078:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R1079:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R1131:Lgr6	UTSW	1	134987304	missense	probably damaging	0.98
R1440:Lgr6	UTSW	1	134987472	missense	probably damaging	1.00
R1533:Lgr6	UTSW	1	135104932	missense	possibly damaging	0.66
R1728:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1728:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1728:Lgr6	UTSW	1	135003476	missense	probably benign
R1729:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1729:Lgr6	UTSW	1	134988009	missense	probably benign
R1729:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1729:Lgr6	UTSW	1	135003476	missense	probably benign
R1730:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1730:Lgr6	UTSW	1	134988009	missense	probably benign
R1730:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1730:Lgr6	UTSW	1	135003476	missense	probably benign
R1739:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1739:Lgr6	UTSW	1	134988009	missense	probably benign
R1739:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1739:Lgr6	UTSW	1	135003476	missense	probably benign
R1762:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1762:Lgr6	UTSW	1	134988009	missense	probably benign
R1762:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1762:Lgr6	UTSW	1	135003476	missense	probably benign
R1782:Lgr6	UTSW	1	134987979	missense	probably damaging	0.98
R1783:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1783:Lgr6	UTSW	1	134988009	missense	probably benign
R1783:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1783:Lgr6	UTSW	1	135003476	missense	probably benign
R1784:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1784:Lgr6	UTSW	1	134988009	missense	probably benign
R1784:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1784:Lgr6	UTSW	1	135003476	missense	probably benign
R1785:Lgr6	UTSW	1	134987088	missense	probably benign	0.00
R1785:Lgr6	UTSW	1	134988009	missense	probably benign
R1785:Lgr6	UTSW	1	134990635	missense	probably benign	0.18
R1785:Lgr6	UTSW	1	135003476	missense	probably benign
R2020:Lgr6	UTSW	1	135075275	missense	probably damaging	1.00
R3104:Lgr6	UTSW	1	135000472	splice site	probably null
R4629:Lgr6	UTSW	1	135104932	missense	probably damaging	0.99
R4792:Lgr6	UTSW	1	135021806	missense	probably benign	0.03
R5001:Lgr6	UTSW	1	134990632	missense	probably benign	0.01
R5191:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5194:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5195:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5196:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5197:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5228:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5230:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5243:Lgr6	UTSW	1	135109272	unclassified	probably benign
R5299:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5300:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5417:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5419:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5601:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5603:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5636:Lgr6	UTSW	1	134987078	missense	probably benign	0.28
R5699:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5748:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5767:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5825:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R5971:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6078:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6079:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6138:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6258:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6259:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6260:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6740:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6871:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00
R6984:Lgr6	UTSW	1	134988002	missense	possibly damaging	0.54
R6986:Lgr6	UTSW	1	134993956	missense	possibly damaging	0.80
R7233:Lgr6	UTSW	1	135000476	critical splice donor site	probably null
R7699:Lgr6	UTSW	1	134996032	missense	probably damaging	1.00
R7700:Lgr6	UTSW	1	134996032	missense	probably damaging	1.00
R7734:Lgr6	UTSW	1	135003243	missense	probably damaging	1.00
R7849:Lgr6	UTSW	1	134987681	missense	probably damaging	1.00
R7970:Lgr6	UTSW	1	134993985	missense	probably benign
R8068:Lgr6	UTSW	1	135063664	missense	probably benign	0.00
R8252:Lgr6	UTSW	1	135003477	missense	probably null	0.78
R8516:Lgr6	UTSW	1	135075283	missense	probably damaging	1.00
R8771:Lgr6	UTSW	1	135005691	nonsense	probably null
R8858:Lgr6	UTSW	1	134996111	critical splice acceptor site	probably null
R8885:Lgr6	UTSW	1	134987604	missense	probably benign	0.00
R9014:Lgr6	UTSW	1	135003510	missense	probably damaging	1.00
R9277:Lgr6	UTSW	1	134987479	nonsense	probably null
R9660:Lgr6	UTSW	1	134987507	missense	probably damaging	1.00
R9728:Lgr6	UTSW	1	134987507	missense	probably damaging	1.00
Z1088:Lgr6	UTSW	1	134988071	missense	possibly damaging	0.89
Z1191:Lgr6	UTSW	1	134994010	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08