Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Lgr6'

67533

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

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

169

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	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
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
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