Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Lgr6'

85713

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

039164-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1078 (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: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	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
R0390: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
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

PCR Primer
(F):5'- CACTCACAGTGGTTCTCAGCTTGTC -3'
(R):5'- AGAGTCCTTTGGGGTCAGGAATCAG -3'

Sequencing Primer
(F):5'- TCTCAGCTTGTCCAGCAAGG -3'
(R):5'- cacctaaaaccaccagaaacac -3'

Posted On

2013-11-18