Mutagenetix > Incidental Mutation

Incidental Mutation 'R2383:Lgr4'

247593

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109747992-109844602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109830960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 296 (S296P)

Ref Sequence

ENSEMBL: ENSMUSP00000047325 (fasta)

Gene Model

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

AlphaFold

A2ARI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046548
AA Change: S296P

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

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: S296P

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: S272P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: S272P

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: ENSMUST00000142869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152584

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	T	C	2: 130,893,282 (GRCm39)	T748A	probably benign	Het
Afg3l2	A	G	18: 67,556,026 (GRCm39)	V435A	possibly damaging	Het
Ccdc170	G	A	10: 4,484,208 (GRCm39)	E345K	probably benign	Het
Chd2	T	C	7: 73,153,168 (GRCm39)	I227V	possibly damaging	Het
Cndp2	C	A	18: 84,693,215 (GRCm39)	D182Y	possibly damaging	Het
Col14a1	A	T	15: 55,310,913 (GRCm39)		probably benign	Het
Cyp2e1	C	T	7: 140,349,981 (GRCm39)	S222L	probably benign	Het
Evx2	T	C	2: 74,488,393 (GRCm39)		probably null	Het
Kics2	A	G	10: 121,586,554 (GRCm39)	T290A	possibly damaging	Het
L1td1	A	G	4: 98,625,959 (GRCm39)	E718G	possibly damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mtbp	G	A	15: 55,429,590 (GRCm39)	G162D	probably damaging	Het
Nap1l1	T	G	10: 111,329,272 (GRCm39)	D295E	probably damaging	Het
Or2f1b	A	T	6: 42,739,393 (GRCm39)	M136L	probably benign	Het
Plrg1	C	T	3: 82,973,255 (GRCm39)	P178S	probably damaging	Het
Serpina1b	T	A	12: 103,694,539 (GRCm39)	I402F	probably benign	Het
Sla	T	A	15: 66,654,525 (GRCm39)	I254F	probably damaging	Het
Slc25a29	A	G	12: 108,792,934 (GRCm39)	S215P	probably damaging	Het
Thoc2l	T	C	5: 104,666,854 (GRCm39)	S459P	probably benign	Het
Tiam1	A	G	16: 89,595,572 (GRCm39)	V1303A	probably benign	Het
Trim45	A	T	3: 100,832,543 (GRCm39)	I259F	probably damaging	Het
Ttn	T	C	2: 76,536,856 (GRCm39)	S34990G	probably benign	Het
Zbtb48	A	G	4: 152,111,407 (GRCm39)	V36A	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
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
R5914:Lgr4	UTSW	2	109,748,617 (GRCm39)	missense	possibly damaging	0.78
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'- TGTCAGACATCTCCATCATAAGTC -3'
(R):5'- ACTCTCCAGATGGACAGTTCCG -3'

Sequencing Primer
(F):5'- GACACTGGGAACATGGATTTA -3'
(R):5'- ATGGACAGTTCCGGCCAGATTG -3'

Posted On

2014-11-11