Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Lgr5'

220499

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

039997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1985 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

115286219-115423685 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 115331150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133707 (fasta)

Gene Model

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

AlphaFold

Q9Z1P4

Predicted Effect

probably benign
Transcript: ENSMUST00000020350

SMART Domains

Protein: ENSMUSP00000020350
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	9.73e-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 benign
Transcript: ENSMUST00000172806

SMART Domains

Protein: ENSMUSP00000133860
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	9.73e-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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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
Abhd8	C	A	8: 71,916,157 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,236,755 (GRCm39)	D648E	probably benign	Het
Akr1d1	A	G	6: 37,535,336 (GRCm39)	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,207,363 (GRCm39)	H3R	possibly damaging	Het
Anpep	A	C	7: 79,490,605 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,903 (GRCm39)	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,604,899 (GRCm39)	Y427N	probably benign	Het
Camkk2	A	C	5: 122,902,190 (GRCm39)	S40A	possibly damaging	Het
Camp	T	C	9: 109,677,497 (GRCm39)	N112S	probably benign	Het
Cbx7	A	G	15: 79,802,591 (GRCm39)	S229P	probably damaging	Het
Cnot2	T	C	10: 116,363,781 (GRCm39)	N41S	probably damaging	Het
Dchs1	A	G	7: 105,421,605 (GRCm39)	F272L	possibly damaging	Het
Dct	T	C	14: 118,273,954 (GRCm39)	K318E	probably benign	Het
Dhrs11	A	C	11: 84,719,633 (GRCm39)	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,481,718 (GRCm39)	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Flnc	A	G	6: 29,444,415 (GRCm39)		probably benign	Het
Garin3	T	C	11: 46,298,693 (GRCm39)	*666Q	probably null	Het
Gm7535	A	G	17: 18,131,800 (GRCm39)		probably benign	Het
Grtp1	A	G	8: 13,229,376 (GRCm39)	F313L	probably damaging	Het
Haus6	T	C	4: 86,511,846 (GRCm39)	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,422,753 (GRCm39)	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hipk3	T	C	2: 104,264,780 (GRCm39)	I737V	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Ints3	C	T	3: 90,307,610 (GRCm39)		probably null	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kdm4b	T	A	17: 56,708,302 (GRCm39)	V957E	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Klhl11	G	T	11: 100,354,070 (GRCm39)	Q584K	probably benign	Het
Krt9	A	T	11: 100,080,817 (GRCm39)	M345K	probably benign	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Ly9	A	G	1: 171,427,341 (GRCm39)	S405P	probably damaging	Het
Myh2	A	G	11: 67,071,740 (GRCm39)	D519G	possibly damaging	Het
Nav3	G	A	10: 109,606,045 (GRCm39)		probably benign	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,175,600 (GRCm39)		probably benign	Het
Obsl1	A	G	1: 75,482,244 (GRCm39)	C209R	probably damaging	Het
Or13a25	G	A	7: 140,247,734 (GRCm39)	C171Y	probably damaging	Het
Or2d4	A	G	7: 106,544,133 (GRCm39)	I25T	probably benign	Het
Or2j6	A	T	7: 139,980,713 (GRCm39)	M82K	possibly damaging	Het
Or2t44	A	C	11: 58,677,210 (GRCm39)	D50A	probably damaging	Het
Or2y1g	T	C	11: 49,171,110 (GRCm39)	I45T	probably damaging	Het
Or52z14	A	T	7: 103,252,879 (GRCm39)	Y6F	probably benign	Het
Otud4	G	C	8: 80,366,641 (GRCm39)	R36P	probably damaging	Het
Pcnt	C	T	10: 76,216,171 (GRCm39)	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 125,097,331 (GRCm39)	M491L	probably benign	Het
Pitrm1	A	T	13: 6,608,220 (GRCm39)	D316V	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pramel52-ps	A	T	5: 94,531,931 (GRCm39)	I272L	probably benign	Het
Prickle2	T	C	6: 92,388,433 (GRCm39)	D323G	probably damaging	Het
Psmd11	A	T	11: 80,336,089 (GRCm39)	I114F	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbp3	T	G	14: 33,678,418 (GRCm39)	S789A	probably benign	Het
Rfxap	C	A	3: 54,714,747 (GRCm39)	R117L	probably damaging	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Scin	A	G	12: 40,183,907 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,583,744 (GRCm39)	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,619,210 (GRCm39)	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,370,469 (GRCm39)	I237V	probably benign	Het
Spag6	A	G	2: 18,736,930 (GRCm39)	I218V	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tbc1d24	G	A	17: 24,426,938 (GRCm39)	R318*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Trpm3	T	A	19: 22,903,446 (GRCm39)	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,197,479 (GRCm39)	D47G	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Uqcc6	T	A	10: 82,456,051 (GRCm39)	T37S	possibly damaging	Het
Wdr7	GTT	GT	18: 63,893,654 (GRCm39)		probably null	Het
Ybx2	A	G	11: 69,827,294 (GRCm39)		probably null	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp788	T	A	7: 41,299,905 (GRCm39)	I795N	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
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
R6362:Lgr5	UTSW	10	115,314,430 (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'- AGGCTTCTAGTCCGTTCAACC -3'
(R):5'- CCATCTGAAGGTAACCGGATG -3'

Sequencing Primer
(F):5'- TAGTCCGTTCAACCCCACCAG -3'
(R):5'- AGATGAGGGCTTAATTGATAATTGG -3'

Posted On

2014-08-25