Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Lgr6'

440346

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

043287-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134983301-135105276 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134987078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 644 (D644G)

Ref Sequence

ENSEMBL: ENSMUSP00000122334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044828] [ENSMUST00000137968]

AlphaFold

Q3UVD5

Predicted Effect

probably benign
Transcript: ENSMUST00000044828
AA Change: D921G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035444
Gene: ENSMUSG00000042793
AA Change: D921G

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 benign
Transcript: ENSMUST00000137968
AA Change: D644G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122334
Gene: ENSMUSG00000042793
AA Change: D644G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982 (GRCm38)	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536 (GRCm38)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056 (GRCm38)	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025 (GRCm38)	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309 (GRCm38)	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372 (GRCm38)	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933 (GRCm38)		probably benign	Het
Atp10d	A	G	5: 72,288,219 (GRCm38)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385 (GRCm38)		probably benign	Het
Bms1	C	A	6: 118,388,825 (GRCm38)	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723 (GRCm38)	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442 (GRCm38)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,033,742 (GRCm38)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,438,306 (GRCm38)	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585 (GRCm38)	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481 (GRCm38)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018 (GRCm38)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686 (GRCm38)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058 (GRCm38)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945 (GRCm38)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456 (GRCm38)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301 (GRCm38)	T35A	probably benign	Het
Lrrc6	A	T	15: 66,500,816 (GRCm38)		probably null	Het
Mdn1	C	T	4: 32,695,480 (GRCm38)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240 (GRCm38)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470 (GRCm38)	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528 (GRCm38)	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676 (GRCm38)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294 (GRCm38)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399 (GRCm38)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188 (GRCm38)	K755*	probably null	Het
Olfr1501	C	T	19: 13,838,337 (GRCm38)	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051 (GRCm38)	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560 (GRCm38)	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192 (GRCm38)		probably null	Het
Ric3	G	A	7: 109,038,820 (GRCm38)	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629 (GRCm38)	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905 (GRCm38)	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954 (GRCm38)	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594 (GRCm38)	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014 (GRCm38)	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193 (GRCm38)	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193 (GRCm38)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216 (GRCm38)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829 (GRCm38)		probably null	Het
Spag9	C	A	11: 94,069,012 (GRCm38)	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404 (GRCm38)		probably benign	Het
Stam	G	T	2: 14,117,427 (GRCm38)	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224 (GRCm38)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm38)	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909 (GRCm38)	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996 (GRCm38)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429 (GRCm38)	H605R	probably damaging	Het

Other mutations in Lgr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Lgr6	APN	1	135,001,691 (GRCm38)	splice site	probably benign
IGL02483:Lgr6	APN	1	135,001,691 (GRCm38)	splice site	probably benign
IGL03270:Lgr6	APN	1	134,997,704 (GRCm38)	missense	probably damaging	1.00
R0002:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0294:Lgr6	UTSW	1	135,105,061 (GRCm38)	missense	unknown
R0294:Lgr6	UTSW	1	134,987,891 (GRCm38)	missense	probably damaging	0.99
R0361:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0390:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0731:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0734:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0741:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0742:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0765:Lgr6	UTSW	1	134,993,886 (GRCm38)	missense	probably benign	0.04
R0903:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0904:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0905:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0906:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0907:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0908:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R0967:Lgr6	UTSW	1	134,994,012 (GRCm38)	missense	probably damaging	1.00
R1078:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R1079:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R1131:Lgr6	UTSW	1	134,987,304 (GRCm38)	missense	probably damaging	0.98
R1440:Lgr6	UTSW	1	134,987,472 (GRCm38)	missense	probably damaging	1.00
R1533:Lgr6	UTSW	1	135,104,932 (GRCm38)	missense	possibly damaging	0.66
R1728:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1728:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1728:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1729:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1729:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1729:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1729:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1730:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1730:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1730:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1730:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1739:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1739:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1739:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1739:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1762:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1762:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1762:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1762:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1782:Lgr6	UTSW	1	134,987,979 (GRCm38)	missense	probably damaging	0.98
R1783:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1783:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1783:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1783:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1784:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1784:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1784:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1784:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R1785:Lgr6	UTSW	1	134,988,009 (GRCm38)	missense	probably benign
R1785:Lgr6	UTSW	1	134,987,088 (GRCm38)	missense	probably benign	0.00
R1785:Lgr6	UTSW	1	135,003,476 (GRCm38)	missense	probably benign
R1785:Lgr6	UTSW	1	134,990,635 (GRCm38)	missense	probably benign	0.18
R2020:Lgr6	UTSW	1	135,075,275 (GRCm38)	missense	probably damaging	1.00
R3104:Lgr6	UTSW	1	135,000,472 (GRCm38)	splice site	probably null
R4629:Lgr6	UTSW	1	135,104,932 (GRCm38)	missense	probably damaging	0.99
R4792:Lgr6	UTSW	1	135,021,806 (GRCm38)	missense	probably benign	0.03
R5001:Lgr6	UTSW	1	134,990,632 (GRCm38)	missense	probably benign	0.01
R5191:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5194:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5195:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5196:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5197:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5228:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5230:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5243:Lgr6	UTSW	1	135,109,272 (GRCm38)	unclassified	probably benign
R5299:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5300:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5417:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5419:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5601:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5603:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5699:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5748:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5767:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5825:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R5971:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6078:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6079:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6138:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6258:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6259:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6260:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6740:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6871:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00
R6984:Lgr6	UTSW	1	134,988,002 (GRCm38)	missense	possibly damaging	0.54
R6986:Lgr6	UTSW	1	134,993,956 (GRCm38)	missense	possibly damaging	0.80
R7233:Lgr6	UTSW	1	135,000,476 (GRCm38)	critical splice donor site	probably null
R7699:Lgr6	UTSW	1	134,996,032 (GRCm38)	missense	probably damaging	1.00
R7700:Lgr6	UTSW	1	134,996,032 (GRCm38)	missense	probably damaging	1.00
R7734:Lgr6	UTSW	1	135,003,243 (GRCm38)	missense	probably damaging	1.00
R7849:Lgr6	UTSW	1	134,987,681 (GRCm38)	missense	probably damaging	1.00
R7970:Lgr6	UTSW	1	134,993,985 (GRCm38)	missense	probably benign
R8068:Lgr6	UTSW	1	135,063,664 (GRCm38)	missense	probably benign	0.00
R8252:Lgr6	UTSW	1	135,003,477 (GRCm38)	missense	probably null	0.78
R8516:Lgr6	UTSW	1	135,075,283 (GRCm38)	missense	probably damaging	1.00
R8771:Lgr6	UTSW	1	135,005,691 (GRCm38)	nonsense	probably null
R8858:Lgr6	UTSW	1	134,996,111 (GRCm38)	critical splice acceptor site	probably null
R8885:Lgr6	UTSW	1	134,987,604 (GRCm38)	missense	probably benign	0.00
R9014:Lgr6	UTSW	1	135,003,510 (GRCm38)	missense	probably damaging	1.00
R9277:Lgr6	UTSW	1	134,987,479 (GRCm38)	nonsense	probably null
R9660:Lgr6	UTSW	1	134,987,507 (GRCm38)	missense	probably damaging	1.00
R9728:Lgr6	UTSW	1	134,987,507 (GRCm38)	missense	probably damaging	1.00
Z1088:Lgr6	UTSW	1	134,988,071 (GRCm38)	missense	possibly damaging	0.89
Z1191:Lgr6	UTSW	1	134,994,010 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATCATTGGACGGGAAGAG -3'
(R):5'- TCACTTCCGGGATGACCTTC -3'

Sequencing Primer
(F):5'- TCATTGGACGGGAAGAGGACAAAC -3'
(R):5'- AGAAGAGCTCCTGCGACTC -3'

Posted On

2016-11-08