Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Lgr6'

68122

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

038915-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134911039-135033014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134921748 bp (GRCm39)

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: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably 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
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
R1131:Lgr6	UTSW	1	134,915,042 (GRCm39)	missense	probably damaging	0.98
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'- CACTCACAGTGGTTCTCAGCTTGTC -3'
(R):5'- AGAGTCCTTTGGGGTCAGGAATCAG -3'

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

Posted On

2013-09-03