Mutagenetix > Incidental Mutation

Incidental Mutation 'R5300:Lgr6'

405594

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

042883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5300 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	A	G	8: 23,622,517 (GRCm39)	K1644E	probably benign	Het
C7	C	A	15: 5,061,432 (GRCm39)	G306W	probably damaging	Het
Ccdc185	A	G	1: 182,575,645 (GRCm39)	V348A	probably benign	Het
Cfap58	A	T	19: 47,929,595 (GRCm39)	I19F	probably benign	Het
Dnaaf2	C	G	12: 69,245,002 (GRCm39)	V20L	probably damaging	Het
Dpy19l3	A	G	7: 35,426,735 (GRCm39)	Y58H	probably damaging	Het
Dsc1	T	C	18: 20,227,917 (GRCm39)	S480G	probably damaging	Het
Eno4	G	A	19: 58,943,982 (GRCm39)		probably null	Het
Gm136	T	G	4: 34,750,930 (GRCm39)	K114N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Lrrc37a	T	A	11: 103,347,784 (GRCm39)	L2970F	unknown	Het
Ly86	C	T	13: 37,602,588 (GRCm39)	T160I	probably benign	Het
Mfsd4b1	A	C	10: 39,879,027 (GRCm39)	F290C	probably benign	Het
Minar1	A	T	9: 89,485,252 (GRCm39)	S48R	probably damaging	Het
Nbeal1	T	G	1: 60,274,718 (GRCm39)	Y376*	probably null	Het
Nipbl	A	T	15: 8,380,981 (GRCm39)	S604T	probably benign	Het
Pml	A	C	9: 58,154,302 (GRCm39)	N190K	probably damaging	Het
Rin3	C	A	12: 102,335,929 (GRCm39)	F533L	probably benign	Het
Scamp1	A	G	13: 94,340,670 (GRCm39)	V233A	probably damaging	Het
Sppl2c	A	T	11: 104,077,901 (GRCm39)	N234Y	possibly damaging	Het
Tfap2b	A	G	1: 19,298,677 (GRCm39)	K278R	probably damaging	Het
Tg	A	G	15: 66,550,704 (GRCm39)	Y278C	probably damaging	Het
Trdn	A	G	10: 33,071,978 (GRCm39)	E215G	probably damaging	Het
Tssk6	T	C	8: 70,355,285 (GRCm39)	S110P	probably benign	Het
Vmn2r15	A	T	5: 109,441,974 (GRCm39)	L153Q	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp667	A	G	7: 6,307,635 (GRCm39)	H101R	probably benign	Het
Zfp772	A	T	7: 7,207,157 (GRCm39)	M178K	probably benign	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
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
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'- ACTTCCTTCGGGGTCACAAG -3'
(R):5'- TCAGGAATCAGGCTTCAAGATTCC -3'

Sequencing Primer
(F):5'- GTCACAAGGATCCCTACTAATACTTC -3'
(R):5'- TTATGGTTGCAAGTCACCACAGC -3'

Posted On

2016-07-22