Mutagenetix > Incidental Mutation

Incidental Mutation 'R5191:Lgr6'

398093

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

043263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5191 (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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	G	15: 101,034,946 (GRCm39)	E235G	probably damaging	Het
Adam26b	T	C	8: 43,973,028 (GRCm39)	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,843 (GRCm39)	R1407G	probably benign	Het
Aknad1	T	C	3: 108,659,306 (GRCm39)	S107P	probably benign	Het
Aknad1	G	A	3: 108,659,867 (GRCm39)	V294I	probably benign	Het
Arfgef2	A	G	2: 166,718,431 (GRCm39)	T1407A	probably damaging	Het
Atp5f1a	C	T	18: 77,867,929 (GRCm39)	P318S	probably damaging	Het
Atp9a	C	T	2: 168,503,983 (GRCm39)	V494M	possibly damaging	Het
Ccdc69	A	T	11: 54,943,719 (GRCm39)		probably null	Het
Crh	T	C	3: 19,748,093 (GRCm39)	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,791,035 (GRCm39)	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,042,955 (GRCm39)	A862T	probably benign	Het
Dact3	T	G	7: 16,609,375 (GRCm39)	V9G	probably damaging	Het
Dnaaf9	A	T	2: 130,579,323 (GRCm39)	I638N	possibly damaging	Het
Dnah8	A	G	17: 30,965,739 (GRCm39)	E2357G	probably damaging	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Etl4	G	T	2: 20,344,810 (GRCm39)	S38I	probably damaging	Het
Fyb2	G	T	4: 104,852,994 (GRCm39)	C558F	possibly damaging	Het
Galnt3	T	C	2: 65,924,050 (GRCm39)	E406G	probably damaging	Het
Golga3	T	A	5: 110,332,173 (GRCm39)		probably benign	Het
Gpr179	T	A	11: 97,228,975 (GRCm39)	Q1060L	possibly damaging	Het
Havcr1	A	T	11: 46,647,024 (GRCm39)	I153F	probably benign	Het
Hnrnpc	A	T	14: 52,314,964 (GRCm39)	V141E	probably damaging	Het
Kcnj2	C	T	11: 110,963,297 (GRCm39)	Q230*	probably null	Het
Limch1	T	C	5: 67,184,904 (GRCm39)	L631P	probably damaging	Het
Lpin1	T	C	12: 16,630,829 (GRCm39)	N23S	possibly damaging	Het
Macf1	A	G	4: 123,366,755 (GRCm39)	S1104P	probably benign	Het
Man2b1	A	G	8: 85,811,088 (GRCm39)	D73G	probably damaging	Het
Marf1	A	G	16: 13,963,942 (GRCm39)	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,298,466 (GRCm39)	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,846,668 (GRCm39)	E304G	probably damaging	Het
Mst1r	G	A	9: 107,788,750 (GRCm39)	R423H	probably damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Muc5b	A	G	7: 141,412,276 (GRCm39)	T1741A	unknown	Het
Myo1g	C	T	11: 6,465,105 (GRCm39)	A447T	probably benign	Het
Nr1h2	C	A	7: 44,199,840 (GRCm39)	A360S	probably damaging	Het
Nufip1	A	G	14: 76,349,429 (GRCm39)	K154E	probably damaging	Het
Or12k8	T	G	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or2a54	T	A	6: 43,092,800 (GRCm39)	N41K	probably damaging	Het
Or7e166	G	A	9: 19,624,630 (GRCm39)	C169Y	probably damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Plec	T	C	15: 76,059,365 (GRCm39)	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sarm1	G	A	11: 78,387,945 (GRCm39)	Q114*	probably null	Het
Sec31a	T	C	5: 100,553,370 (GRCm39)	E112G	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a2	G	T	1: 40,783,053 (GRCm39)	R439L	probably damaging	Het
Sptb	C	A	12: 76,659,608 (GRCm39)	E1097D	probably benign	Het
Stk38	A	C	17: 29,193,344 (GRCm39)	C362G	probably benign	Het
Stmn2	A	T	3: 8,610,635 (GRCm39)	M40L	probably benign	Het
Sytl2	A	T	7: 90,024,860 (GRCm39)	T283S	probably damaging	Het
Tcf4	A	G	18: 69,775,954 (GRCm39)	S48G	probably damaging	Het
Tlr4	A	T	4: 66,759,616 (GRCm39)	H803L	probably damaging	Het
Ttn	C	T	2: 76,709,432 (GRCm39)		probably benign	Het
Tyk2	G	T	9: 21,018,793 (GRCm39)	Q1099K	probably damaging	Het
Usp30	C	T	5: 114,203,755 (GRCm39)		probably benign	Het
Vmn1r175	A	G	7: 23,508,447 (GRCm39)	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,743,582 (GRCm39)	P451T	possibly damaging	Het
Zeb2	T	C	2: 44,892,612 (GRCm39)	S146G	probably benign	Het
Zfp236	T	A	18: 82,639,548 (GRCm39)	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,119,022 (GRCm39)	V174A	probably damaging	Het
Zswim1	G	A	2: 164,667,939 (GRCm39)	S397N	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
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'- ACTTCCTTCGGGGTCACAAG -3'
(R):5'- CAGGAATCAGGCTTCAAGATTCC -3'

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

Posted On

2016-07-06