Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Lrig2'

344801

Institutional Source

Beutler Lab

Gene Symbol

Lrig2

Ensembl Gene

ENSMUSG00000032913

Gene Name

leucine-rich repeats and immunoglobulin-like domains 2

Synonyms

4632419I10Rik

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104361296-104419251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104370099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 844 (I844M)

Ref Sequence

ENSEMBL: ENSMUSP00000142540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046316] [ENSMUST00000198332] [ENSMUST00000199070]

AlphaFold

Q52KR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046316
AA Change: I851M

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

SMART Domains

Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: I851M

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
LRR	118	141	3.56e2	SMART
LRR	142	165	1.81e2	SMART
LRR	167	188	1.31e0	SMART
LRR	213	236	1.41e0	SMART
LRR	237	260	4.98e-1	SMART
LRR	261	284	1.49e1	SMART
LRR	285	308	1.62e0	SMART
LRR	309	332	2.14e0	SMART
LRR_TYP	333	356	2.2e-2	SMART
LRR	357	383	9.22e0	SMART
LRR	384	407	2.17e-1	SMART
LRR_TYP	408	431	3.95e-4	SMART
LRRCT	442	492	3.62e-8	SMART
IG	503	598	2.19e-9	SMART
IGc2	613	681	1.94e-10	SMART
IGc2	707	772	3.2e-11	SMART
transmembrane domain	805	827	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197018

Predicted Effect

probably damaging
Transcript: ENSMUST00000198332
AA Change: I844M

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

SMART Domains

Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: I844M

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
LRR	118	141	3.56e2	SMART
LRR	142	165	1.81e2	SMART
LRR	167	188	1.31e0	SMART
LRR	213	236	1.41e0	SMART
LRR	237	260	4.98e-1	SMART
LRR	261	284	1.49e1	SMART
LRR	285	308	1.62e0	SMART
LRR	309	332	2.14e0	SMART
LRR_TYP	333	356	2.2e-2	SMART
LRR	357	383	9.22e0	SMART
LRR	384	407	2.17e-1	SMART
LRR_TYP	408	431	3.95e-4	SMART
LRRCT	442	492	3.62e-8	SMART
IG	503	598	2.19e-9	SMART
IGc2	613	681	1.94e-10	SMART
IGc2	707	772	3.2e-11	SMART
transmembrane domain	805	827	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199070
AA Change: I486M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913
AA Change: I486M

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
LRRCT	84	134	1.8e-10	SMART
IG	145	240	9.2e-12	SMART
IGc2	255	323	8.1e-13	SMART
IGc2	349	414	1.3e-13	SMART
transmembrane domain	447	469	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200453

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to PDGFB-induced glioma and premature death due to illness with reduced body weight, letahrgy, hackled fur, crouched posture and increased inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	Het

Other mutations in Lrig2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Lrig2	APN	3	104,374,487 (GRCm39)	missense	probably damaging	0.99
IGL00715:Lrig2	APN	3	104,371,264 (GRCm39)	missense	probably damaging	1.00
IGL01105:Lrig2	APN	3	104,371,484 (GRCm39)	nonsense	probably null
IGL01767:Lrig2	APN	3	104,398,861 (GRCm39)	missense	probably benign	0.12
IGL02080:Lrig2	APN	3	104,371,440 (GRCm39)	missense	probably damaging	1.00
IGL02088:Lrig2	APN	3	104,374,424 (GRCm39)	missense	probably damaging	1.00
IGL02967:Lrig2	APN	3	104,401,512 (GRCm39)	intron	probably benign
IGL03024:Lrig2	APN	3	104,401,389 (GRCm39)	missense	probably damaging	1.00
IGL03079:Lrig2	APN	3	104,398,287 (GRCm39)	missense	probably damaging	0.98
IGL03085:Lrig2	APN	3	104,374,575 (GRCm39)	missense	probably damaging	1.00
IGL03162:Lrig2	APN	3	104,371,613 (GRCm39)	missense	probably damaging	1.00
Belladonna	UTSW	3	104,374,682 (GRCm39)	splice site	probably benign
R0414:Lrig2	UTSW	3	104,401,372 (GRCm39)	critical splice donor site	probably null
R0866:Lrig2	UTSW	3	104,371,591 (GRCm39)	missense	probably benign	0.00
R1184:Lrig2	UTSW	3	104,398,227 (GRCm39)	missense	possibly damaging	0.94
R1524:Lrig2	UTSW	3	104,371,192 (GRCm39)	missense	probably benign	0.38
R1606:Lrig2	UTSW	3	104,387,423 (GRCm39)	critical splice donor site	probably null
R1672:Lrig2	UTSW	3	104,399,128 (GRCm39)	missense	probably damaging	1.00
R1701:Lrig2	UTSW	3	104,401,993 (GRCm39)	missense	probably benign	0.02
R1778:Lrig2	UTSW	3	104,374,682 (GRCm39)	splice site	probably benign
R2034:Lrig2	UTSW	3	104,401,408 (GRCm39)	missense	probably benign
R2100:Lrig2	UTSW	3	104,418,946 (GRCm39)	missense	possibly damaging	0.76
R2186:Lrig2	UTSW	3	104,375,914 (GRCm39)	missense	probably benign	0.00
R3778:Lrig2	UTSW	3	104,365,277 (GRCm39)	missense	probably benign
R3977:Lrig2	UTSW	3	104,365,160 (GRCm39)	missense	probably damaging	1.00
R4119:Lrig2	UTSW	3	104,374,511 (GRCm39)	missense	probably benign	0.00
R4210:Lrig2	UTSW	3	104,374,620 (GRCm39)	missense	probably benign	0.00
R4872:Lrig2	UTSW	3	104,398,842 (GRCm39)	missense	possibly damaging	0.66
R5020:Lrig2	UTSW	3	104,365,217 (GRCm39)	missense	possibly damaging	0.71
R5499:Lrig2	UTSW	3	104,368,873 (GRCm39)	missense	probably benign	0.00
R5687:Lrig2	UTSW	3	104,371,388 (GRCm39)	splice site	probably null
R5718:Lrig2	UTSW	3	104,375,931 (GRCm39)	nonsense	probably null
R5886:Lrig2	UTSW	3	104,370,014 (GRCm39)	missense	probably benign	0.01
R5921:Lrig2	UTSW	3	104,370,070 (GRCm39)	nonsense	probably null
R6434:Lrig2	UTSW	3	104,398,863 (GRCm39)	missense	possibly damaging	0.91
R6468:Lrig2	UTSW	3	104,374,509 (GRCm39)	missense	probably damaging	1.00
R6513:Lrig2	UTSW	3	104,373,045 (GRCm39)	missense	probably damaging	1.00
R6675:Lrig2	UTSW	3	104,365,251 (GRCm39)	missense	probably benign	0.35
R7243:Lrig2	UTSW	3	104,404,883 (GRCm39)	splice site	probably null
R7395:Lrig2	UTSW	3	104,404,836 (GRCm39)	missense	probably benign	0.00
R7444:Lrig2	UTSW	3	104,404,829 (GRCm39)	nonsense	probably null
R7514:Lrig2	UTSW	3	104,373,076 (GRCm39)	missense	probably damaging	1.00
R7751:Lrig2	UTSW	3	104,401,985 (GRCm39)	nonsense	probably null
R8720:Lrig2	UTSW	3	104,418,998 (GRCm39)	missense	probably damaging	0.99
R8809:Lrig2	UTSW	3	104,368,993 (GRCm39)	missense	probably benign	0.00
R9019:Lrig2	UTSW	3	104,368,914 (GRCm39)	missense	probably benign	0.27
R9204:Lrig2	UTSW	3	104,387,438 (GRCm39)	missense	possibly damaging	0.81
R9215:Lrig2	UTSW	3	104,398,324 (GRCm39)	missense	probably benign	0.00
R9549:Lrig2	UTSW	3	104,398,191 (GRCm39)	missense	probably damaging	0.97
R9562:Lrig2	UTSW	3	104,375,924 (GRCm39)	missense	possibly damaging	0.69
R9664:Lrig2	UTSW	3	104,371,556 (GRCm39)	missense	probably damaging	1.00
R9773:Lrig2	UTSW	3	104,368,838 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GCCCAGGCTAATGGAGAAAC -3'
(R):5'- CCACAAGAGAAGGAGTCCATTTAG -3'

Sequencing Primer
(F):5'- TGAACTATACCCAGTAATACAGGCTG -3'
(R):5'- ACAGCCTGTACATGTTAGGC -3'

Posted On

2015-09-25