Mutagenetix > Incidental Mutation

Incidental Mutation 'R5914:Lgr4'

461170

Institutional Source

Beutler Lab

Gene Symbol

Lgr4

Ensembl Gene

ENSMUSG00000050199

Gene Name

leucine-rich repeat-containing G protein-coupled receptor 4

Synonyms

Gpr48, A330106J01Rik, A930009A08Rik

MMRRC Submission

044111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5914 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

109747992-109844602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109748617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 51 (V51E)

Ref Sequence

ENSEMBL: ENSMUSP00000106666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046548] [ENSMUST00000111037]

AlphaFold

A2ARI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046548
AA Change: V51E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: V51E

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	28	61	6.68e-6	SMART
LRR	55	79	1.49e1	SMART
LRR	80	103	1.99e0	SMART
LRR_TYP	104	127	2.75e-3	SMART
LRR_TYP	128	151	2.79e-4	SMART
LRR	152	175	2.54e1	SMART
LRR	176	199	4.65e-1	SMART
LRR_TYP	200	223	1.04e-3	SMART
LRR	224	246	6.4e0	SMART
LRR_TYP	247	270	5.99e-4	SMART
LRR	272	294	9.77e1	SMART
LRR	318	341	3e1	SMART
LRR	343	363	4.71e1	SMART
LRR	364	387	1.49e1	SMART
LRR_TYP	388	411	1.15e-5	SMART
LRR	412	435	3.98e1	SMART
low complexity region	500	516	N/A	INTRINSIC
Pfam:7tm_1	555	801	2.7e-10	PFAM
low complexity region	824	837	N/A	INTRINSIC
low complexity region	910	924	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111037
AA Change: V51E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: V51E

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
LRRNT	28	61	6.68e-6	SMART
LRR	55	79	9.77e1	SMART
LRR_TYP	80	103	2.75e-3	SMART
LRR_TYP	104	127	2.79e-4	SMART
LRR	128	151	2.54e1	SMART
LRR	152	175	4.65e-1	SMART
LRR_TYP	176	199	1.04e-3	SMART
LRR	200	222	6.4e0	SMART
LRR_TYP	223	246	5.99e-4	SMART
LRR	248	270	9.77e1	SMART
LRR	294	317	3e1	SMART
LRR	319	339	4.71e1	SMART
LRR	340	363	1.49e1	SMART
LRR_TYP	364	387	1.15e-5	SMART
LRR	388	411	3.98e1	SMART
low complexity region	476	492	N/A	INTRINSIC
Pfam:7tm_1	531	777	9.3e-17	PFAM
low complexity region	800	813	N/A	INTRINSIC
low complexity region	886	900	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146110

Meta Mutation Damage Score

0.3068

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

95% (87/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a knock-out allele show embryonic and perinatal death, open eyelids, and abnormal renal development. One gene trap mutation leads to reduced body weight, sterility, and impaired male reproductive tract development. Another gene trap mutation causes ocular anterior segment anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,410,219 (GRCm39)	R286H	possibly damaging	Het
Ank3	A	T	10: 69,828,774 (GRCm39)		probably benign	Het
Arhgap24	G	A	5: 102,700,025 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,543,176 (GRCm39)	Y396H	probably benign	Het
Asap3	G	T	4: 135,968,720 (GRCm39)	G722C	probably benign	Het
Birc2	A	C	9: 7,857,343 (GRCm39)	*377E	probably null	Het
Cdc123	G	T	2: 5,803,174 (GRCm39)	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,855,120 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Cfap97	T	G	8: 46,634,895 (GRCm39)	S407A	probably damaging	Het
Cfh	A	T	1: 140,063,967 (GRCm39)	N436K	probably benign	Het
Chpf2	A	T	5: 24,797,421 (GRCm39)		probably benign	Het
Cnnm2	A	G	19: 46,751,616 (GRCm39)	T469A	probably benign	Het
Col6a3	T	A	1: 90,703,922 (GRCm39)	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,809,414 (GRCm39)	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,178,724 (GRCm39)	C602S	probably benign	Het
Dda1	T	A	8: 71,927,294 (GRCm39)		probably benign	Het
Dixdc1	T	C	9: 50,609,888 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Emilin3	T	A	2: 160,750,990 (GRCm39)	N253I	probably damaging	Het
Epg5	T	A	18: 78,002,847 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,209,525 (GRCm39)	Y68*	probably null	Het
Fbln5	T	G	12: 101,727,002 (GRCm39)	D329A	possibly damaging	Het
Fkbp15	T	A	4: 62,246,047 (GRCm39)		probably null	Het
Fnbp4	C	G	2: 90,605,137 (GRCm39)		probably benign	Het
Foxn2	C	A	17: 88,770,138 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,920,012 (GRCm39)	D448G	probably damaging	Het
Fzd9	T	C	5: 135,278,199 (GRCm39)	Y562C	probably benign	Het
Gcn1	A	G	5: 115,748,194 (GRCm39)		silent	Het
Gm6003	A	G	7: 32,864,691 (GRCm39)		noncoding transcript	Het
Gnl3	C	A	14: 30,738,853 (GRCm39)	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,713,615 (GRCm39)	R461K	probably benign	Het
Ice1	A	G	13: 70,754,496 (GRCm39)	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,904 (GRCm39)	S129T	probably benign	Het
Ino80	G	A	2: 119,288,697 (GRCm39)	S3L	probably damaging	Het
Ints2	T	A	11: 86,113,000 (GRCm39)	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,849,280 (GRCm39)	M247T	probably benign	Het
Kpna6	T	C	4: 129,566,485 (GRCm39)		probably benign	Het
Krtap28-13	T	A	1: 83,039,044 (GRCm39)		probably benign	Het
Map3k5	A	C	10: 19,980,001 (GRCm39)	E836D	probably benign	Het
Mapk11	T	C	15: 89,030,038 (GRCm39)	I193V	probably benign	Het
Marchf10	A	T	11: 105,276,308 (GRCm39)	V660E	probably damaging	Het
Matn4	T	C	2: 164,235,144 (GRCm39)	E435G	probably damaging	Het
Mre11a	G	T	9: 14,723,232 (GRCm39)	R402M	probably damaging	Het
Msr1	C	T	8: 40,034,868 (GRCm39)	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,750,206 (GRCm39)	R99*	probably null	Het
Nkx6-1	C	T	5: 101,811,847 (GRCm39)	S85N	unknown	Het
Nop2	A	T	6: 125,111,691 (GRCm39)	E141D	probably benign	Het
Or5b3	A	G	19: 13,388,326 (GRCm39)	H131R	probably benign	Het
Or8b1	G	C	9: 38,399,657 (GRCm39)	E111Q	probably damaging	Het
Paox	T	C	7: 139,709,101 (GRCm39)	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,466,768 (GRCm39)	V995A	probably benign	Het
Pdcd1	T	A	1: 93,968,550 (GRCm39)	K161N	probably benign	Het
Pfkfb2	C	A	1: 130,627,832 (GRCm39)	V372L	probably damaging	Het
Phldb1	G	A	9: 44,622,948 (GRCm39)	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,599,477 (GRCm39)	V198L	probably benign	Het
Pnpla8	T	A	12: 44,342,753 (GRCm39)	L41*	probably null	Het
Postn	C	T	3: 54,281,221 (GRCm39)	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,988 (GRCm39)	S642N	probably benign	Het
Ptpn23	G	A	9: 110,214,511 (GRCm39)		probably benign	Het
Ptprj	T	C	2: 90,283,684 (GRCm39)	N923S	possibly damaging	Het
Rai1	T	C	11: 60,078,630 (GRCm39)	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,057,515 (GRCm39)	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,379,580 (GRCm39)	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,201,049 (GRCm39)	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,713,997 (GRCm39)	L749F	possibly damaging	Het
Spon1	G	A	7: 113,630,056 (GRCm39)	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,886,992 (GRCm39)	E2K	probably benign	Het
Thoc5	A	G	11: 4,870,416 (GRCm39)	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,528,213 (GRCm39)	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,675,008 (GRCm39)	D221V	probably benign	Het
Trim30b	A	T	7: 104,006,572 (GRCm39)	S95T	probably damaging	Het
Trip12	T	C	1: 84,741,179 (GRCm39)	E571G	probably damaging	Het
Ttn	T	C	2: 76,781,656 (GRCm39)		probably null	Het
Ubp1	A	T	9: 113,785,807 (GRCm39)	R161W	probably benign	Het
Usp21	G	A	1: 171,109,745 (GRCm39)		probably benign	Het
Vmn1r61	T	A	7: 5,613,529 (GRCm39)	R262W	probably damaging	Het
Vmn2r67	A	T	7: 84,801,044 (GRCm39)	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,653,038 (GRCm39)	L784S	probably benign	Het
Vwc2	G	A	11: 11,104,244 (GRCm39)	V259M	probably damaging	Het
Zeb2	T	C	2: 44,887,064 (GRCm39)	I596M	probably benign	Het
Zgrf1	T	A	3: 127,354,672 (GRCm39)	L97H	probably damaging	Het

Other mutations in Lgr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:Lgr4	APN	2	109,841,635 (GRCm39)	missense	probably damaging	1.00
IGL02247:Lgr4	APN	2	109,838,420 (GRCm39)	splice site	probably benign
IGL02247:Lgr4	APN	2	109,832,846 (GRCm39)	missense	probably benign
IGL02302:Lgr4	APN	2	109,832,841 (GRCm39)	missense	probably damaging	0.99
IGL02309:Lgr4	APN	2	109,842,880 (GRCm39)	utr 3 prime	probably benign
IGL02511:Lgr4	APN	2	109,841,617 (GRCm39)	missense	probably benign	0.06
IGL02604:Lgr4	APN	2	109,841,658 (GRCm39)	missense	probably damaging	1.00
IGL02648:Lgr4	APN	2	109,842,718 (GRCm39)	missense	probably damaging	1.00
IGL02795:Lgr4	APN	2	109,838,555 (GRCm39)	splice site	probably benign
IGL02899:Lgr4	APN	2	109,748,598 (GRCm39)	missense	probably damaging	0.99
R0003:Lgr4	UTSW	2	109,828,010 (GRCm39)	critical splice donor site	probably null
R0200:Lgr4	UTSW	2	109,801,035 (GRCm39)	critical splice acceptor site	probably null
R0314:Lgr4	UTSW	2	109,821,438 (GRCm39)	splice site	probably benign
R0482:Lgr4	UTSW	2	109,838,437 (GRCm39)	missense	probably damaging	1.00
R0491:Lgr4	UTSW	2	109,837,626 (GRCm39)	splice site	probably benign
R0517:Lgr4	UTSW	2	109,841,665 (GRCm39)	missense	probably damaging	1.00
R0546:Lgr4	UTSW	2	109,829,766 (GRCm39)	missense	probably damaging	0.98
R0658:Lgr4	UTSW	2	109,842,132 (GRCm39)	missense	possibly damaging	0.83
R1367:Lgr4	UTSW	2	109,821,480 (GRCm39)	missense	probably damaging	0.98
R1864:Lgr4	UTSW	2	109,841,742 (GRCm39)	missense	possibly damaging	0.93
R1977:Lgr4	UTSW	2	109,842,273 (GRCm39)	missense	probably damaging	1.00
R2239:Lgr4	UTSW	2	109,842,738 (GRCm39)	missense	probably damaging	1.00
R2380:Lgr4	UTSW	2	109,842,738 (GRCm39)	missense	probably damaging	1.00
R2383:Lgr4	UTSW	2	109,830,960 (GRCm39)	missense	probably damaging	1.00
R2997:Lgr4	UTSW	2	109,833,862 (GRCm39)	missense	probably benign	0.30
R3707:Lgr4	UTSW	2	109,801,099 (GRCm39)	missense	probably damaging	0.99
R3803:Lgr4	UTSW	2	109,838,542 (GRCm39)	missense	probably benign	0.10
R3804:Lgr4	UTSW	2	109,838,542 (GRCm39)	missense	probably benign	0.10
R3843:Lgr4	UTSW	2	109,827,118 (GRCm39)	splice site	probably benign
R4030:Lgr4	UTSW	2	109,820,096 (GRCm39)	missense	probably benign	0.06
R4513:Lgr4	UTSW	2	109,842,361 (GRCm39)	missense	possibly damaging	0.93
R4777:Lgr4	UTSW	2	109,827,027 (GRCm39)	missense	probably damaging	0.98
R4912:Lgr4	UTSW	2	109,836,847 (GRCm39)	critical splice acceptor site	probably null
R4994:Lgr4	UTSW	2	109,842,283 (GRCm39)	missense	probably damaging	0.99
R5106:Lgr4	UTSW	2	109,827,940 (GRCm39)	missense	probably damaging	0.97
R5131:Lgr4	UTSW	2	109,842,678 (GRCm39)	missense	probably benign
R5152:Lgr4	UTSW	2	109,830,948 (GRCm39)	missense	probably damaging	1.00
R5753:Lgr4	UTSW	2	109,832,857 (GRCm39)	nonsense	probably null
R5860:Lgr4	UTSW	2	109,821,496 (GRCm39)	missense	probably damaging	0.96
R6145:Lgr4	UTSW	2	109,837,588 (GRCm39)	nonsense	probably null
R6263:Lgr4	UTSW	2	109,842,243 (GRCm39)	missense	possibly damaging	0.95
R6400:Lgr4	UTSW	2	109,821,478 (GRCm39)	missense	probably damaging	0.98
R6924:Lgr4	UTSW	2	109,842,784 (GRCm39)	missense	probably damaging	1.00
R7171:Lgr4	UTSW	2	109,831,314 (GRCm39)	missense	probably benign	0.11
R7326:Lgr4	UTSW	2	109,826,974 (GRCm39)	nonsense	probably null
R7593:Lgr4	UTSW	2	109,829,801 (GRCm39)	missense	probably damaging	1.00
R7659:Lgr4	UTSW	2	109,827,111 (GRCm39)	missense	probably damaging	1.00
R7707:Lgr4	UTSW	2	109,827,936 (GRCm39)	critical splice acceptor site	probably null
R7936:Lgr4	UTSW	2	109,836,863 (GRCm39)	missense	probably damaging	1.00
R7940:Lgr4	UTSW	2	109,836,858 (GRCm39)	missense	probably damaging	1.00
R8062:Lgr4	UTSW	2	109,831,282 (GRCm39)	missense	probably damaging	1.00
R8153:Lgr4	UTSW	2	109,830,645 (GRCm39)	missense	probably damaging	0.99
R9225:Lgr4	UTSW	2	109,842,485 (GRCm39)	missense	probably benign
R9434:Lgr4	UTSW	2	109,836,907 (GRCm39)	missense	probably benign
R9557:Lgr4	UTSW	2	109,827,084 (GRCm39)	missense	probably damaging	1.00
X0053:Lgr4	UTSW	2	109,841,782 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AACCTTGAGGAGCTGTGCG -3'
(R):5'- GTGGCTAAGTCTGGAGAGGC -3'

Sequencing Primer
(F):5'- CTGCTGAAGGAAGCGAGC -3'
(R):5'- TGGAGAGGCCAGCATACG -3'

Posted On

2017-02-28