Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Lgr5'

512529

Institutional Source

Beutler Lab

Gene Symbol

Lgr5

Ensembl Gene

ENSMUSG00000020140

Gene Name

leucine rich repeat containing G protein coupled receptor 5

Synonyms

Gpr49

MMRRC Submission

044512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115286219-115423685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115314430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 169 (L169P)

Ref Sequence

ENSEMBL: ENSMUSP00000133860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020350] [ENSMUST00000172806] [ENSMUST00000173740]

AlphaFold

Q9Z1P4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020350
AA Change: L169P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: L169P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	33	70	1.43e-5	SMART
LRR	64	88	1.41e2	SMART
LRR_TYP	89	112	3.44e-4	SMART
LRR_TYP	113	136	9.88e-5	SMART
LRR_TYP	137	160	9.73e-4	SMART
LRR_TYP	161	184	5.21e-4	SMART
LRR	185	208	6.22e0	SMART
LRR_TYP	209	232	3.89e-3	SMART
LRR	233	255	9.75e0	SMART
LRR_TYP	256	279	1.38e-3	SMART
Blast:LRR	281	303	2e-6	BLAST
Blast:LRR	304	328	1e-5	BLAST
LRR_TYP	351	374	1.56e-2	SMART
LRR	375	396	1.09e2	SMART
LRR_TYP	397	420	7.26e-3	SMART
LRR	421	444	2.86e-1	SMART
low complexity region	518	533	N/A	INTRINSIC
Pfam:7tm_1	574	820	9.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149008

Predicted Effect

probably damaging
Transcript: ENSMUST00000172806
AA Change: L169P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: L169P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	33	70	1.43e-5	SMART
LRR	64	88	1.41e2	SMART
LRR_TYP	89	112	3.44e-4	SMART
LRR_TYP	113	136	9.88e-5	SMART
LRR_TYP	137	160	9.73e-4	SMART
LRR_TYP	161	184	5.21e-4	SMART
LRR	185	208	6.22e0	SMART
LRR_TYP	209	232	3.89e-3	SMART
LRR	233	255	9.75e0	SMART
LRR	256	279	6.57e-1	SMART
Blast:LRR	280	304	1e-5	BLAST
LRR_TYP	327	350	1.56e-2	SMART
LRR	351	372	1.09e2	SMART
LRR_TYP	373	396	7.26e-3	SMART
LRR	397	420	2.86e-1	SMART
low complexity region	494	509	N/A	INTRINSIC
Pfam:7tm_1	550	796	8.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173740

SMART Domains

Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	33	70	1.43e-5	SMART
LRR	64	88	1.41e2	SMART
LRR_TYP	89	112	3.44e-4	SMART
LRR_TYP	113	136	9.88e-5	SMART
LRR_TYP	137	160	9.08e-4	SMART
LRR	161	183	9.75e0	SMART
LRR_TYP	184	207	1.38e-3	SMART
Blast:LRR	209	231	1e-6	BLAST
Blast:LRR	232	256	1e-5	BLAST
LRR_TYP	279	302	1.56e-2	SMART
LRR	303	324	1.09e2	SMART
LRR_TYP	325	348	7.26e-3	SMART
LRR	349	372	2.86e-1	SMART
low complexity region	446	461	N/A	INTRINSIC
Pfam:7tm_1	502	748	7.4e-16	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(7)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh5a1	T	G	13: 25,102,533 (GRCm39)	D310A	probably benign	Het
Als2cl	T	A	9: 110,724,514 (GRCm39)		probably null	Het
Amacr	C	A	15: 10,984,891 (GRCm39)	R170S	probably damaging	Het
Brwd1	C	T	16: 95,803,507 (GRCm39)	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,330,533 (GRCm39)		probably null	Het
Cd3d	G	A	9: 44,897,589 (GRCm39)	D157N	probably damaging	Het
Cep131	T	C	11: 119,955,516 (GRCm39)	D1043G	probably damaging	Het
Cimip1	T	G	2: 173,369,967 (GRCm39)		probably null	Het
Cit	A	G	5: 116,024,735 (GRCm39)	D326G	probably benign	Het
Col16a1	G	C	4: 129,959,983 (GRCm39)	G370R	unknown	Het
Col6a3	T	A	1: 90,738,285 (GRCm39)	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,347,549 (GRCm39)	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Daxx	G	A	17: 34,130,338 (GRCm39)	V118I	probably damaging	Het
Dennd5a	G	T	7: 109,533,472 (GRCm39)	C75*	probably null	Het
Diaph3	A	G	14: 87,009,566 (GRCm39)	L1071P	probably damaging	Het
Disp3	A	G	4: 148,338,765 (GRCm39)	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,473,024 (GRCm39)	V141A	probably benign	Het
Dsc2	A	T	18: 20,168,520 (GRCm39)	Y45*	probably null	Het
Dspp	A	G	5: 104,323,900 (GRCm39)	I348V	probably benign	Het
Epb42	C	A	2: 120,856,260 (GRCm39)	C428F	possibly damaging	Het
Fam227a	G	T	15: 79,527,551 (GRCm39)	P100Q	possibly damaging	Het
Fer1l4	C	T	2: 155,890,170 (GRCm39)	V252I	probably benign	Het
Fhod1	C	A	8: 106,058,273 (GRCm39)		probably null	Het
Fhod3	G	T	18: 24,887,312 (GRCm39)	A68S	probably benign	Het
Gatm	T	C	2: 122,428,677 (GRCm39)	D328G	probably benign	Het
Gm6401	G	T	14: 41,789,727 (GRCm39)	H44N	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,216,937 (GRCm39)	A380V	probably damaging	Het
Herc1	G	T	9: 66,379,190 (GRCm39)	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Jag2	T	A	12: 112,883,742 (GRCm39)	K246N	probably damaging	Het
Klhl32	T	C	4: 24,629,195 (GRCm39)	D524G	probably null	Het
Lax1	A	G	1: 133,608,334 (GRCm39)	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,764,725 (GRCm39)	K217E	probably benign	Het
Lrrc37	G	C	11: 103,511,478 (GRCm39)	N163K	unknown	Het
Mad1l1	A	T	5: 140,300,810 (GRCm39)	S29T	possibly damaging	Het
Man1a	T	C	10: 53,950,891 (GRCm39)	H77R	probably benign	Het
Met	C	T	6: 17,558,732 (GRCm39)	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,605 (GRCm39)	I250N	probably damaging	Het
Myod1	A	G	7: 46,026,305 (GRCm39)	H70R	possibly damaging	Het
Neb	T	C	2: 52,102,704 (GRCm39)	N4280S	probably benign	Het
Nudt6	T	C	3: 37,473,638 (GRCm39)	T28A	possibly damaging	Het
Nup85	A	G	11: 115,474,560 (GRCm39)	E628G	probably damaging	Het
Oaz3	A	T	3: 94,342,295 (GRCm39)	D120E	probably damaging	Het
Or2y3	A	T	17: 38,393,620 (GRCm39)	M83K	probably damaging	Het
Or5b102	A	T	19: 13,040,709 (GRCm39)		probably benign	Het
Or5be3	C	T	2: 86,863,633 (GRCm39)	A311T	probably benign	Het
Or5m8	C	A	2: 85,822,285 (GRCm39)	N41K	probably damaging	Het
Or6c1b	A	C	10: 129,272,812 (GRCm39)	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,108,929 (GRCm39)	K404*	probably null	Het
Pcdhga2	A	G	18: 37,803,958 (GRCm39)	N601D	probably damaging	Het
Pld2	T	C	11: 70,445,501 (GRCm39)	Y638H	probably damaging	Het
Pramel27	A	G	4: 143,579,435 (GRCm39)	Y340C	probably damaging	Het
Prickle2	C	G	6: 92,435,596 (GRCm39)	V2L	possibly damaging	Het
Psmd6	G	A	14: 14,116,949 (GRCm38)	R125C	probably benign	Het
Rnaset2b	G	A	17: 7,259,093 (GRCm39)	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416 (GRCm39)	D574V	probably benign	Het
Scn8a	T	A	15: 100,837,996 (GRCm39)		probably null	Het
Sec11a	T	C	7: 80,572,879 (GRCm39)	E134G	probably benign	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,051,120 (GRCm39)		probably null	Het
Slc43a1	T	C	2: 84,690,128 (GRCm39)	L435P	probably damaging	Het
Spn	G	A	7: 126,735,895 (GRCm39)	P204L	possibly damaging	Het
Srr	T	A	11: 74,801,028 (GRCm39)	Q173L	probably damaging	Het
Star	C	G	8: 26,301,835 (GRCm39)	T222S	probably benign	Het
Timm22	T	A	11: 76,301,953 (GRCm39)	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,678,458 (GRCm39)	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,632,835 (GRCm39)	M1I	probably null	Het
Tmtc2	A	T	10: 105,205,831 (GRCm39)	I488N	probably damaging	Het
Tnxb	A	T	17: 34,913,362 (GRCm39)	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,296,867 (GRCm39)	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,132,323 (GRCm39)	V253E	possibly damaging	Het
Usf3	A	G	16: 44,038,940 (GRCm39)	D1140G	probably benign	Het
Usp10	T	C	8: 120,668,055 (GRCm39)	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,552,721 (GRCm39)	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,400,382 (GRCm39)	F222L	probably damaging	Het
Zfp654	G	A	16: 64,606,457 (GRCm39)	Q582*	probably null	Het
Zfp791	C	T	8: 85,846,279 (GRCm39)		probably benign	Het
Zfp879	T	A	11: 50,729,302 (GRCm39)	D32V	probably damaging	Het

Other mutations in Lgr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Lgr5	APN	10	115,290,369 (GRCm39)	missense	possibly damaging	0.69
IGL01291:Lgr5	APN	10	115,314,439 (GRCm39)	missense	probably damaging	1.00
IGL01432:Lgr5	APN	10	115,288,997 (GRCm39)	missense	probably damaging	1.00
IGL01778:Lgr5	APN	10	115,298,607 (GRCm39)	missense	probably damaging	0.97
IGL01936:Lgr5	APN	10	115,288,319 (GRCm39)	missense	probably damaging	1.00
IGL02079:Lgr5	APN	10	115,288,099 (GRCm39)	missense	probably damaging	1.00
IGL02134:Lgr5	APN	10	115,288,763 (GRCm39)	missense	possibly damaging	0.89
IGL03083:Lgr5	APN	10	115,288,937 (GRCm39)	missense	probably benign	0.26
IGL03350:Lgr5	APN	10	115,307,893 (GRCm39)	missense	probably damaging	0.99
anger	UTSW	10	115,302,251 (GRCm39)	missense	probably benign	0.03
ANU05:Lgr5	UTSW	10	115,314,439 (GRCm39)	missense	probably damaging	1.00
R0378:Lgr5	UTSW	10	115,290,404 (GRCm39)	missense	probably damaging	1.00
R0788:Lgr5	UTSW	10	115,288,902 (GRCm39)	missense	probably damaging	0.99
R1119:Lgr5	UTSW	10	115,296,716 (GRCm39)	critical splice donor site	probably null
R1321:Lgr5	UTSW	10	115,314,362 (GRCm39)	missense	probably damaging	1.00
R1880:Lgr5	UTSW	10	115,288,184 (GRCm39)	missense	probably damaging	1.00
R1985:Lgr5	UTSW	10	115,331,150 (GRCm39)	splice site	probably benign
R2434:Lgr5	UTSW	10	115,423,311 (GRCm39)	missense	probably benign
R3055:Lgr5	UTSW	10	115,302,028 (GRCm39)	splice site	probably benign
R3910:Lgr5	UTSW	10	115,423,368 (GRCm39)	missense	possibly damaging	0.93
R4686:Lgr5	UTSW	10	115,294,648 (GRCm39)	intron	probably benign
R4862:Lgr5	UTSW	10	115,298,669 (GRCm39)	missense	probably damaging	1.00
R4866:Lgr5	UTSW	10	115,288,590 (GRCm39)	missense	probably benign	0.00
R5089:Lgr5	UTSW	10	115,314,328 (GRCm39)	missense	probably damaging	1.00
R5118:Lgr5	UTSW	10	115,288,244 (GRCm39)	missense	possibly damaging	0.88
R5375:Lgr5	UTSW	10	115,314,469 (GRCm39)	missense	probably benign	0.00
R5537:Lgr5	UTSW	10	115,292,594 (GRCm39)	missense	probably benign	0.00
R5583:Lgr5	UTSW	10	115,314,409 (GRCm39)	missense	probably benign	0.32
R6312:Lgr5	UTSW	10	115,288,829 (GRCm39)	missense	probably damaging	1.00
R6605:Lgr5	UTSW	10	115,293,772 (GRCm39)	missense	possibly damaging	0.69
R6689:Lgr5	UTSW	10	115,302,513 (GRCm39)	missense	probably damaging	0.99
R6705:Lgr5	UTSW	10	115,423,193 (GRCm39)	missense	probably damaging	0.96
R6925:Lgr5	UTSW	10	115,302,251 (GRCm39)	missense	probably benign	0.03
R7063:Lgr5	UTSW	10	115,292,639 (GRCm39)	missense	probably damaging	1.00
R7261:Lgr5	UTSW	10	115,423,370 (GRCm39)	missense	possibly damaging	0.96
R7274:Lgr5	UTSW	10	115,288,410 (GRCm39)	missense	probably damaging	0.99
R7458:Lgr5	UTSW	10	115,293,660 (GRCm39)	critical splice donor site	probably null
R7569:Lgr5	UTSW	10	115,298,661 (GRCm39)	missense	probably damaging	1.00
R7770:Lgr5	UTSW	10	115,307,899 (GRCm39)	missense	probably damaging	0.98
R7936:Lgr5	UTSW	10	115,288,952 (GRCm39)	missense	probably damaging	0.99
R7964:Lgr5	UTSW	10	115,288,079 (GRCm39)	missense	probably benign	0.00
R8085:Lgr5	UTSW	10	115,311,102 (GRCm39)	missense	probably benign
R8537:Lgr5	UTSW	10	115,288,307 (GRCm39)	missense	probably damaging	1.00
R8703:Lgr5	UTSW	10	115,288,610 (GRCm39)	missense	probably benign	0.01
R8704:Lgr5	UTSW	10	115,288,610 (GRCm39)	missense	probably benign	0.01
R8706:Lgr5	UTSW	10	115,288,610 (GRCm39)	missense	probably benign	0.01
R8707:Lgr5	UTSW	10	115,288,610 (GRCm39)	missense	probably benign	0.01
R9019:Lgr5	UTSW	10	115,314,454 (GRCm39)	missense	probably damaging	1.00
R9043:Lgr5	UTSW	10	115,314,343 (GRCm39)	missense	probably damaging	1.00
R9215:Lgr5	UTSW	10	115,311,085 (GRCm39)	missense	probably damaging	0.99
R9217:Lgr5	UTSW	10	115,423,349 (GRCm39)	missense	probably benign	0.33
R9427:Lgr5	UTSW	10	115,288,913 (GRCm39)	missense	probably damaging	1.00
R9631:Lgr5	UTSW	10	115,302,513 (GRCm39)	missense	probably damaging	0.99
R9738:Lgr5	UTSW	10	115,288,527 (GRCm39)	missense	probably damaging	1.00
Z1176:Lgr5	UTSW	10	115,296,781 (GRCm39)	missense	probably damaging	0.98
Z1177:Lgr5	UTSW	10	115,292,574 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGGTCCATCACTTGAAGGC -3'
(R):5'- TGACAGTCTGATTTGCTCTGC -3'

Sequencing Primer
(F):5'- GGTCCATCACTTGAAGGCTAAGATC -3'
(R):5'- GCTCTGCCTAATGAGCACATG -3'

Posted On

2018-04-27