Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Lgr4'

568865

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

045378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109747992-109844602 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 109826974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 159 (W159*)

Ref Sequence

ENSEMBL: ENSMUSP00000047325 (fasta)

Gene Model

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

AlphaFold

A2ARI4

Predicted Effect

probably null
Transcript: ENSMUST00000046548
AA Change: W159*

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: W159*

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

probably null
Transcript: ENSMUST00000111037
AA Change: W135*

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: W135*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	possibly 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
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
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'- ATAGGCTTCTATGGCTCTGGC -3'
(R):5'- ATGAAACCCATTTTGCCCTCAAAG -3'

Sequencing Primer
(F):5'- CTCTGGCTAGTTTTATGGGTCCC -3'
(R):5'- TTGCCCTCAAAGTAACACAAATATG -3'

Posted On

2019-09-13