Mutagenetix > Incidental Mutation

Incidental Mutation 'R7171:Lgr4'

558243

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

045230-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109747992-109844602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109831314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 314 (N314K)

Ref Sequence

ENSEMBL: ENSMUSP00000047325 (fasta)

Gene Model

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

AlphaFold

A2ARI4

Predicted Effect

probably benign
Transcript: ENSMUST00000046548
AA Change: N314K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047325
Gene: ENSMUSG00000050199
AA Change: N314K

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 benign
Transcript: ENSMUST00000111037
AA Change: N290K

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106666
Gene: ENSMUSG00000050199
AA Change: N290K

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,454,897 (GRCm39)	N154S	unknown	Het
Ank3	C	T	10: 69,828,311 (GRCm39)	H2327Y		Het
Ano6	A	G	15: 95,818,172 (GRCm39)	Y305C	probably damaging	Het
Apc2	A	G	10: 80,151,170 (GRCm39)	T2075A	possibly damaging	Het
Arl6	A	G	16: 59,443,455 (GRCm39)	V93A	possibly damaging	Het
Bcas3	T	C	11: 85,474,763 (GRCm39)	S790P	probably damaging	Het
Bcl9l	C	A	9: 44,416,448 (GRCm39)	H211N	probably benign	Het
Bptf	G	T	11: 107,022,233 (GRCm39)	D172E	unknown	Het
Card9	T	G	2: 26,249,496 (GRCm39)	I22L	possibly damaging	Het
Catsperg1	C	A	7: 28,884,637 (GRCm39)	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,404,750 (GRCm39)	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,215,229 (GRCm39)	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,612,072 (GRCm39)	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,663,934 (GRCm39)	L503P	probably benign	Het
Cpn1	T	C	19: 43,962,470 (GRCm39)	N160D	probably damaging	Het
Ctsh	T	A	9: 89,949,154 (GRCm39)	I206K	probably benign	Het
Cyb561d1	G	A	3: 108,106,679 (GRCm39)	T180M	probably damaging	Het
Dapk1	A	T	13: 60,909,599 (GRCm39)	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,556,684 (GRCm39)	R76L	probably benign	Het
Dnah7c	T	C	1: 46,719,898 (GRCm39)	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333 (GRCm39)	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,530,285 (GRCm39)	A310S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faap24	G	A	7: 35,092,279 (GRCm39)	Q213*	probably null	Het
Fam181b	G	A	7: 92,729,943 (GRCm39)	G239S	possibly damaging	Het
Fancm	T	C	12: 65,148,394 (GRCm39)	W670R	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,944 (GRCm39)	L1636*	probably null	Het
Fmnl1	T	C	11: 103,081,224 (GRCm39)	Y357H	probably damaging	Het
Fryl	A	T	5: 73,279,653 (GRCm39)	V215E	probably damaging	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Fsip2	T	A	2: 82,816,571 (GRCm39)	Y4101*	probably null	Het
Gcn1	G	A	5: 115,728,352 (GRCm39)	V738I	probably benign	Het
Gdf9	C	T	11: 53,328,366 (GRCm39)	R441C	probably damaging	Het
Gipc3	C	T	10: 81,177,455 (GRCm39)	G79E	probably damaging	Het
Gzmf	T	A	14: 56,443,391 (GRCm39)	I196L	probably benign	Het
Hectd1	A	T	12: 51,806,080 (GRCm39)	V1852E	probably damaging	Het
Hip1r	A	T	5: 124,134,007 (GRCm39)	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,746,890 (GRCm39)	S405P	probably damaging	Het
Il9r	T	A	11: 32,142,671 (GRCm39)	H294L	probably benign	Het
Kif12	G	A	4: 63,086,931 (GRCm39)	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,284,794 (GRCm39)	M1K	probably null	Het
Lamc2	A	T	1: 153,015,495 (GRCm39)	C613S	probably damaging	Het
Lpcat2	T	C	8: 93,635,894 (GRCm39)	I432T	probably benign	Het
Mfhas1	T	C	8: 36,056,146 (GRCm39)	V207A	probably benign	Het
Msh3	T	G	13: 92,485,806 (GRCm39)	T173P	probably benign	Het
Mup15	T	A	4: 61,356,505 (GRCm39)	M87L	probably benign	Het
N4bp2	T	C	5: 65,965,365 (GRCm39)	V1138A	probably benign	Het
Noc2l	T	C	4: 156,326,179 (GRCm39)	V422A	probably benign	Het
Notch3	C	T	17: 32,377,936 (GRCm39)	G74D	probably damaging	Het
Ocstamp	T	A	2: 165,240,081 (GRCm39)	K35I	probably benign	Het
Or12k7	T	C	2: 36,958,400 (GRCm39)	F28L	possibly damaging	Het
Or52w1	A	G	7: 105,017,968 (GRCm39)	H145R	probably benign	Het
Or5p58	A	G	7: 107,694,342 (GRCm39)	V145A	probably benign	Het
Or9a2	T	G	6: 41,748,961 (GRCm39)	T91P	probably benign	Het
Plekhh2	T	A	17: 84,829,216 (GRCm39)	V29D	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Rad54l2	C	T	9: 106,590,677 (GRCm39)	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,567,189 (GRCm39)	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,708,049 (GRCm39)	I86N	possibly damaging	Het
Rims1	C	A	1: 22,498,740 (GRCm39)	R68L		Het
Rnf157	A	G	11: 116,253,199 (GRCm39)	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,815,009 (GRCm39)	C452Y	unknown	Het
S100a14	A	T	3: 90,435,069 (GRCm39)	K27*	probably null	Het
Scai	C	T	2: 38,996,948 (GRCm39)	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,672,195 (GRCm39)	I132N	probably benign	Het
Serpinf1	T	A	11: 75,308,811 (GRCm39)	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc16a10	C	G	10: 39,913,255 (GRCm39)	E484D	probably benign	Het
Slc1a5	T	A	7: 16,531,463 (GRCm39)	D489E	probably damaging	Het
Slx4	C	T	16: 3,808,650 (GRCm39)	R430H	probably benign	Het
Teddm1b	A	T	1: 153,750,679 (GRCm39)	I163F	probably damaging	Het
Tmem171	A	T	13: 98,828,744 (GRCm39)	C135*	probably null	Het
Tmem82	C	T	4: 141,342,284 (GRCm39)	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,681,781 (GRCm39)		probably null	Het
Trpm2	A	C	10: 77,759,848 (GRCm39)	L1096R	probably damaging	Het
Trrap	T	A	5: 144,730,859 (GRCm39)	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,718,732 (GRCm39)	D521G	probably benign	Het
Usp7	T	C	16: 8,534,390 (GRCm39)	D59G	probably benign	Het
Vcan	G	A	13: 89,873,710 (GRCm39)	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,910,316 (GRCm39)	L218P	probably damaging	Het
Wdr25	A	T	12: 108,990,922 (GRCm39)	T370S	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
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
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'- TCACAACCTGTCTGATCTGC -3'
(R):5'- TGGAAGCTACACTCAGCCTG -3'

Sequencing Primer
(F):5'- GTCTGATCTGCATTCCTTGTAAG -3'
(R):5'- TGAGCTAAATGACCCCAAGTC -3'

Posted On

2019-06-26