Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Lrig2'

197208

Institutional Source

Beutler Lab

Gene Symbol

Lrig2

Ensembl Gene

ENSMUSG00000032913

Gene Name

leucine-rich repeats and immunoglobulin-like domains 2

Synonyms

4632419I10Rik

MMRRC Submission

039809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104361296-104419251 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 104374682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142373 (fasta)

Gene Model

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

AlphaFold

Q52KR2

Predicted Effect

probably benign
Transcript: ENSMUST00000046316

SMART Domains

Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913

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 benign
Transcript: ENSMUST00000198332

SMART Domains

Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913

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 benign
Transcript: ENSMUST00000199070

SMART Domains

Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913

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

noncoding transcript
Transcript: ENSMUST00000199385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200453

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	C	7: 29,260,131 (GRCm39)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,244,995 (GRCm39)	M119T	probably damaging	Het
Aadacl2	A	G	3: 59,924,871 (GRCm39)		probably null	Het
Abca9	C	T	11: 110,021,542 (GRCm39)	W1056*	probably null	Het
Adam20	A	C	8: 41,249,698 (GRCm39)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 84,656,666 (GRCm39)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,904,638 (GRCm39)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,580,580 (GRCm39)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,602,333 (GRCm39)	E89G	probably benign	Het
Aldh16a1	G	A	7: 44,796,732 (GRCm39)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,372,443 (GRCm39)	K210E	probably benign	Het
Baz2b	T	C	2: 59,836,480 (GRCm39)	T18A	unknown	Het
Bub1	A	C	2: 127,645,042 (GRCm39)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,731,272 (GRCm39)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,741,239 (GRCm39)	P77Q	possibly damaging	Het
Cfap410	G	T	10: 77,818,778 (GRCm39)	A150S	probably benign	Het
Chga	T	A	12: 102,527,959 (GRCm39)	M150K	probably benign	Het
Chmp3	A	G	6: 71,554,791 (GRCm39)	E162G	probably benign	Het
Clip3	A	G	7: 29,996,861 (GRCm39)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,511,867 (GRCm39)		probably benign	Het
Cuedc2	C	T	19: 46,320,079 (GRCm39)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,087,627 (GRCm39)	F428V	probably damaging	Het
Ddx60	A	G	8: 62,427,210 (GRCm39)	I762V	possibly damaging	Het
Def6	G	A	17: 28,439,160 (GRCm39)	R257Q	probably benign	Het
Dkkl1	A	T	7: 44,860,819 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,677,625 (GRCm39)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm39)	R33C	probably benign	Het
Elavl2	T	A	4: 91,141,715 (GRCm39)	Y269F	probably damaging	Het
Esco2	A	G	14: 66,068,711 (GRCm39)	S200P	possibly damaging	Het
Fcrl1	T	A	3: 87,292,626 (GRCm39)		probably benign	Het
Fhod1	C	A	8: 106,056,309 (GRCm39)	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,383,796 (GRCm39)	N41D	possibly damaging	Het
Folh1	A	T	7: 86,410,907 (GRCm39)		probably null	Het
Fpr-rs7	T	C	17: 20,334,277 (GRCm39)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,797,844 (GRCm39)		probably benign	Het
Gm4841	A	T	18: 60,404,020 (GRCm39)	Y24*	probably null	Het
Greb1	G	A	12: 16,740,895 (GRCm39)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,800,590 (GRCm39)	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,152,806 (GRCm39)		probably benign	Het
Ice2	T	C	9: 69,322,930 (GRCm39)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,571,593 (GRCm39)	Q288L	probably damaging	Het
Ift56	T	A	6: 38,386,411 (GRCm39)	D377E	possibly damaging	Het
Ik	T	C	18: 36,889,871 (GRCm39)		probably benign	Het
Kidins220	C	T	12: 25,063,445 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,577,972 (GRCm39)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,697,362 (GRCm39)	T87A	probably damaging	Het
Lama5	G	A	2: 179,837,274 (GRCm39)		probably benign	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Lrig3	A	G	10: 125,845,944 (GRCm39)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,809,908 (GRCm39)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,111,823 (GRCm39)	D565G	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Msrb2	T	A	2: 19,388,114 (GRCm39)	D87E	probably benign	Het
Muc20	T	C	16: 32,614,511 (GRCm39)	T289A	possibly damaging	Het
Myo15a	C	A	11: 60,369,238 (GRCm39)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 108,088,421 (GRCm39)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,348,972 (GRCm39)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,210,738 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,096,793 (GRCm39)	E1334G	probably damaging	Het
Odad2	A	T	18: 7,127,388 (GRCm39)	C942S	probably damaging	Het
Or52e8b	A	T	7: 104,673,370 (GRCm39)	N272K	probably benign	Het
Or5an1c	T	A	19: 12,218,819 (GRCm39)	I69F	probably benign	Het
Or6c6c	T	C	10: 129,541,574 (GRCm39)	Y276H	probably benign	Het
Or9s13	G	A	1: 92,548,342 (GRCm39)	G238E	possibly damaging	Het
Or9s14	A	T	1: 92,535,831 (GRCm39)	N91Y	possibly damaging	Het
P4ha3	A	T	7: 99,949,898 (GRCm39)		probably null	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,710,083 (GRCm39)	Y411N	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Phrf1	T	A	7: 140,812,369 (GRCm39)	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,778,196 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,769,234 (GRCm39)		probably benign	Het
Plxna2	A	G	1: 194,493,278 (GRCm39)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,843,254 (GRCm39)	T183I	probably damaging	Het
Prxl2b	A	T	4: 154,981,814 (GRCm39)	V151D	probably damaging	Het
Ptger4	A	T	15: 5,264,576 (GRCm39)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm39)		probably benign	Het
Rdh7	A	G	10: 127,720,590 (GRCm39)	S261P	probably benign	Het
Reg3a	A	G	6: 78,360,269 (GRCm39)	T150A	probably benign	Het
Rnf111	A	G	9: 70,383,394 (GRCm39)	S180P	probably benign	Het
Rnf17	A	G	14: 56,759,856 (GRCm39)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,085,873 (GRCm39)	Y117*	probably null	Het
Rnps1-ps	A	T	6: 7,983,124 (GRCm39)		noncoding transcript	Het
Rogdi	T	C	16: 4,828,369 (GRCm39)	T165A	probably benign	Het
Rpe65	A	G	3: 159,328,485 (GRCm39)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,494,405 (GRCm39)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm39)	E257D	probably benign	Het
Sim1	C	A	10: 50,857,649 (GRCm39)	C466*	probably null	Het
Spi1	T	A	2: 90,929,867 (GRCm39)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,873,909 (GRCm39)		probably benign	Het
Tbcb	A	G	7: 29,931,037 (GRCm39)	Y28H	probably benign	Het
Tecta	C	T	9: 42,254,927 (GRCm39)	C1752Y	probably damaging	Het
Tep1	T	C	14: 51,067,079 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm39)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Trappc14	T	C	5: 138,260,739 (GRCm39)		probably null	Het
Trim13	G	T	14: 61,843,068 (GRCm39)	A362S	probably benign	Het
Trim47	T	A	11: 116,000,646 (GRCm39)	D134V	probably damaging	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,775,415 (GRCm39)	A222S	possibly damaging	Het
Wdr17	A	G	8: 55,143,249 (GRCm39)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm39)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,751,785 (GRCm39)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,521,788 (GRCm39)	K419R	probably benign	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
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
R4612:Lrig2	UTSW	3	104,370,099 (GRCm39)	missense	probably damaging	1.00
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'- GCACTGGTATTTCCCTTCATCTGT -3'
(R):5'- CTCCTGGGGCTGAAACATACAT -3'

Sequencing Primer
(F):5'- CTGTGAAGTTCACACTGAAG -3'
(R):5'- GGTAAGAGCACTGACTGCTC -3'

Posted On

2014-05-23