Mutagenetix > Incidental Mutation

Incidental Mutation 'R9043:Lgr5'

687856

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

068870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9043 (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 115314343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 198 (I198T)

Ref Sequence

ENSEMBL: ENSMUSP00000020350 (fasta)

Gene Model

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

AlphaFold

Q9Z1P4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020350
AA Change: I198T

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

SMART Domains

Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: I198T

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

SMART Domains

Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: I198T

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

99% (87/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	A	8: 88,309,238 (GRCm39)	S134T	possibly damaging	Het
Aadacl4	T	A	4: 144,349,790 (GRCm39)	L349Q	probably damaging	Het
Ankrd29	T	C	18: 12,428,970 (GRCm39)	N33S	probably damaging	Het
Arid3b	T	C	9: 57,699,900 (GRCm39)	S536G	possibly damaging	Het
Art5	A	C	7: 101,748,699 (GRCm39)	M1R	probably null	Het
Arvcf	T	A	16: 18,218,452 (GRCm39)	C545S	probably damaging	Het
Atpsckmt	A	G	15: 31,617,101 (GRCm39)	T189A	probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
Cdh23	T	G	10: 60,151,478 (GRCm39)	D2469A	probably benign	Het
Cep350	T	A	1: 155,773,228 (GRCm39)	T1781S	probably damaging	Het
Cfap65	T	A	1: 74,943,847 (GRCm39)	T1555S	possibly damaging	Het
Chga	G	A	12: 102,529,054 (GRCm39)	E344K	possibly damaging	Het
Ckap2l	A	T	2: 129,126,892 (GRCm39)	L429M	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
Cyp3a11	T	C	5: 145,805,995 (GRCm39)	D124G	probably benign	Het
Dgkq	A	T	5: 108,801,061 (GRCm39)	V527D	probably damaging	Het
Dnah3	T	C	7: 119,551,272 (GRCm39)	I37V	probably benign	Het
Dnah9	T	A	11: 65,845,680 (GRCm39)	E3068V		Het
Dusp23	T	C	1: 172,460,184 (GRCm39)	E89G	probably null	Het
Fam187a	A	G	11: 102,776,685 (GRCm39)	Y163C	possibly damaging	Het
Gabrg2	T	A	11: 41,865,662 (GRCm39)	I106F	probably damaging	Het
Gpc2	A	G	5: 138,277,193 (GRCm39)	I78T	probably benign	Het
Gpr149	A	C	3: 62,511,360 (GRCm39)	L213R	probably damaging	Het
Grm1	A	T	10: 10,565,056 (GRCm39)	L1084*	probably null	Het
Gypa	A	G	8: 81,222,946 (GRCm39)	T17A	unknown	Het
Gys2	A	T	6: 142,376,059 (GRCm39)	F534L	probably damaging	Het
Iqce	A	T	5: 140,651,810 (GRCm39)	M721K	probably benign	Het
Klrc2	T	A	6: 129,635,741 (GRCm39)	Y129F	probably damaging	Het
Krt14	T	C	11: 100,095,464 (GRCm39)	S314G	possibly damaging	Het
L3mbtl3	T	C	10: 26,156,152 (GRCm39)	Q685R	unknown	Het
Lamb3	A	T	1: 193,007,919 (GRCm39)	K206*	probably null	Het
Mapk10	A	T	5: 103,074,025 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,271,231 (GRCm39)	D463N	probably damaging	Het
Med15	A	T	16: 17,470,582 (GRCm39)	W742R	probably benign	Het
Meis1	T	A	11: 18,831,916 (GRCm39)	Q374L	possibly damaging	Het
Nrxn3	T	C	12: 89,227,252 (GRCm39)	C296R	probably damaging	Het
Ntaq1	A	G	15: 58,014,004 (GRCm39)	Y67C	possibly damaging	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Oca2	T	A	7: 55,927,189 (GRCm39)		probably null	Het
Or5b110-ps1	A	T	19: 13,260,074 (GRCm39)	M116K	probably damaging	Het
Or5b12	T	A	19: 12,897,667 (GRCm39)	E2V	probably benign	Het
Or5d36	T	A	2: 87,900,983 (GRCm39)	T248S	possibly damaging	Het
Or9k2b	A	T	10: 130,016,154 (GRCm39)	H198Q	probably benign	Het
Pacs1	A	G	19: 5,188,964 (GRCm39)	I806T	probably benign	Het
Pax2	T	A	19: 44,804,499 (GRCm39)	S257T	probably benign	Het
Pbxip1	A	T	3: 89,350,794 (GRCm39)	T72S	probably benign	Het
Pcdhb14	T	C	18: 37,581,851 (GRCm39)	I319T	probably damaging	Het
Pcdhga2	C	A	18: 37,802,963 (GRCm39)	A269E	possibly damaging	Het
Pdzph1	A	C	17: 59,280,535 (GRCm39)	N582K	probably benign	Het
Plk2	A	T	13: 110,533,194 (GRCm39)	I186F	probably damaging	Het
Pzp	A	T	6: 128,471,742 (GRCm39)	C895S	probably damaging	Het
Rasa2	A	T	9: 96,484,770 (GRCm39)	V148D	probably damaging	Het
Rgsl1	A	T	1: 153,717,567 (GRCm39)	I14N	possibly damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,349,739 (GRCm39)	R3867G		Het
Rpap3	A	G	15: 97,584,443 (GRCm39)	Y334H	possibly damaging	Het
Scara3	A	C	14: 66,169,070 (GRCm39)	N182K	probably damaging	Het
Sh3bp1	A	G	15: 78,791,449 (GRCm39)	E412G	possibly damaging	Het
Sh3tc2	T	A	18: 62,122,961 (GRCm39)	I574N	possibly damaging	Het
Slc16a11	T	C	11: 70,106,520 (GRCm39)	Y253H	probably damaging	Het
Slc38a4	A	T	15: 96,906,805 (GRCm39)	V311E	possibly damaging	Het
Slc4a7	T	C	14: 14,775,048 (GRCm38)	L826P	probably damaging	Het
Spag9	T	G	11: 93,951,085 (GRCm39)	V83G		Het
Sspo	T	G	6: 48,470,214 (GRCm39)	V4560G	probably benign	Het
Stxbp2	T	A	8: 3,684,478 (GRCm39)	F144I		Het
Tafa2	T	C	10: 123,540,294 (GRCm39)	V50A	probably damaging	Het
Tdh	T	C	14: 63,730,278 (GRCm39)	I334V	probably benign	Het
Tesk2	C	A	4: 116,660,148 (GRCm39)	S451Y	probably benign	Het
Tjp1	A	T	7: 64,962,679 (GRCm39)	V1166E	probably benign	Het
Tmeff2	G	A	1: 51,018,779 (GRCm39)	V254M	unknown	Het
Tmem126a	A	G	7: 90,100,749 (GRCm39)		probably null	Het
Togaram2	C	G	17: 71,993,699 (GRCm39)	P2A	probably benign	Het
Trappc14	G	A	5: 138,259,889 (GRCm39)	T389I	possibly damaging	Het
Tssk4	C	T	14: 55,889,211 (GRCm39)	R246W	probably damaging	Het
Tubal3	C	T	13: 3,982,708 (GRCm39)	R163*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vezt	T	C	10: 93,820,027 (GRCm39)	N446S	probably damaging	Het
Vim	A	T	2: 13,579,249 (GRCm39)	T3S	unknown	Het
Vmn2r45	A	G	7: 8,474,904 (GRCm39)	L708P	possibly damaging	Het
Yes1	A	G	5: 32,810,312 (GRCm39)	Y157C	probably damaging	Het
Zfp358	A	G	8: 3,545,810 (GRCm39)	T131A	probably benign	Het
Zfp426	C	T	9: 20,386,308 (GRCm39)	V58M	probably damaging	Het
Zfp692	T	C	11: 58,198,550 (GRCm39)	S47P	probably damaging	Het
Zfp719	A	T	7: 43,239,605 (GRCm39)	T398S	possibly 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
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
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'- CAGAGATGTTTACCACTCATCAGG -3'
(R):5'- TTCTTCCAGGCGCCTAGATG -3'

Sequencing Primer
(F):5'- AGAGGGTCTCAGAGTTTTTCCTTCC -3'
(R):5'- AGGCGCCTAGATGCCAAC -3'

Posted On

2021-11-19