Mutagenetix > Incidental Mutation

Incidental Mutation 'R1672:Lrig2'

187674

Institutional Source

Beutler Lab

Gene Symbol

Lrig2

Ensembl Gene

ENSMUSG00000032913

Gene Name

leucine-rich repeats and immunoglobulin-like domains 2

Synonyms

4632419I10Rik

MMRRC Submission

039708-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104361296-104419251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104399128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 178 (I178T)

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: I178T

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

SMART Domains

Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: I178T

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: ENSMUST00000198089

Predicted Effect

probably damaging
Transcript: ENSMUST00000198332
AA Change: I178T

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

SMART Domains

Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: I178T

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: ENSMUST00000198452

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	G	A	16: 88,424,096 (GRCm39)	Q132*	probably null	Het
Aadacl4	T	A	4: 144,349,889 (GRCm39)	L382*	probably null	Het
Afg3l2	A	G	18: 67,540,493 (GRCm39)	I672T	probably benign	Het
Aftph	A	T	11: 20,676,762 (GRCm39)	D282E	probably benign	Het
Agpat5	A	G	8: 18,920,930 (GRCm39)	N161S	probably benign	Het
Alpk2	C	T	18: 65,414,030 (GRCm39)	E1562K	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,723 (GRCm39)	R745G	probably benign	Het
Arrdc5	T	C	17: 56,607,144 (GRCm39)	T34A	possibly damaging	Het
Astl	T	C	2: 127,189,163 (GRCm39)	L163P	probably damaging	Het
Atf7ip2	A	T	16: 10,027,005 (GRCm39)	H91L	probably damaging	Het
Atp13a3	A	T	16: 30,151,092 (GRCm39)	S1073T	possibly damaging	Het
Bcl2a1a	A	T	9: 88,839,503 (GRCm39)	I134L	probably damaging	Het
Brinp1	T	C	4: 68,747,520 (GRCm39)		probably null	Het
Capn9	A	G	8: 125,340,570 (GRCm39)	N578S	probably benign	Het
Casp2	T	A	6: 42,245,842 (GRCm39)	D166E	probably damaging	Het
Ccr1l1	A	T	9: 123,777,544 (GRCm39)	I301N	probably damaging	Het
Chtop	T	A	3: 90,414,874 (GRCm39)	T15S	probably damaging	Het
Coq5	T	A	5: 115,417,975 (GRCm39)		probably null	Het
Crbn	G	A	6: 106,772,886 (GRCm39)	P34L	probably damaging	Het
Crisp1	G	T	17: 40,619,760 (GRCm39)	D59E	possibly damaging	Het
Cyp4f14	A	T	17: 33,128,210 (GRCm39)	D268E	probably benign	Het
D5Ertd579e	T	C	5: 36,770,621 (GRCm39)	D1258G	possibly damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb25	T	C	2: 152,464,410 (GRCm39)	M45V	probably benign	Het
Dffa	T	C	4: 149,190,702 (GRCm39)	L77P	probably damaging	Het
Dixdc1	T	C	9: 50,601,164 (GRCm39)	Q361R	probably damaging	Het
Dnah1	A	G	14: 30,998,157 (GRCm39)	L2560P	probably damaging	Het
Fabp5	A	G	3: 10,080,601 (GRCm39)	T108A	probably benign	Het
Fam149a	T	G	8: 45,792,411 (GRCm39)		probably null	Het
Fam20c	A	G	5: 138,793,056 (GRCm39)	Y430C	probably damaging	Het
Fat1	A	G	8: 45,489,872 (GRCm39)	T3595A	probably damaging	Het
Fbp1	A	G	13: 63,015,245 (GRCm39)	Y245H	probably damaging	Het
Frem1	C	T	4: 82,917,128 (GRCm39)	R605H	probably benign	Het
Fscb	A	G	12: 64,518,292 (GRCm39)	I1058T	unknown	Het
Fyb2	A	G	4: 104,808,059 (GRCm39)	K373R	probably benign	Het
Ggta1	A	T	2: 35,292,145 (GRCm39)	Y387*	probably null	Het
Gm18856	T	C	13: 14,140,342 (GRCm39)		probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Gpd2	A	T	2: 57,247,712 (GRCm39)	I552F	probably damaging	Het
Grk5	T	C	19: 61,074,653 (GRCm39)		probably null	Het
Hivep1	T	C	13: 42,313,760 (GRCm39)	V2000A	probably damaging	Het
Ipo5	C	T	14: 121,170,714 (GRCm39)	L466F	probably damaging	Het
Itgb1	G	A	8: 129,458,526 (GRCm39)	S785N	probably damaging	Het
Itpr3	G	A	17: 27,307,987 (GRCm39)	R258K	probably benign	Het
Kcnk12	A	G	17: 88,053,747 (GRCm39)	V305A	probably benign	Het
Klf5	C	T	14: 99,538,986 (GRCm39)	T133I	probably damaging	Het
Lyrm4	A	T	13: 36,276,907 (GRCm39)	M30K	probably benign	Het
Mpv17	A	G	5: 31,311,063 (GRCm39)	Y7H	probably damaging	Het
Mrps22	T	C	9: 98,478,869 (GRCm39)		probably null	Het
Myof	A	T	19: 37,931,927 (GRCm39)	W967R	probably damaging	Het
Naip1	C	T	13: 100,559,657 (GRCm39)	D1116N	probably benign	Het
Or1e33	T	C	11: 73,738,781 (GRCm39)	T57A	probably benign	Het
Or6c66b	C	A	10: 129,376,561 (GRCm39)	H52N	probably benign	Het
Or8g50	G	A	9: 39,648,492 (GRCm39)	C127Y	probably damaging	Het
Or9k2b	T	C	10: 130,016,261 (GRCm39)	T163A	probably benign	Het
Ovol2	T	C	2: 144,147,710 (GRCm39)	Y180C	probably damaging	Het
Pacs1	T	C	19: 5,202,337 (GRCm39)	S418G	probably benign	Het
Pcdh1	T	C	18: 38,325,233 (GRCm39)	E903G	probably damaging	Het
Pcdhb15	A	T	18: 37,607,713 (GRCm39)	Y315F	probably damaging	Het
Pex1	T	C	5: 3,676,085 (GRCm39)	L891P	probably damaging	Het
Potefam1	T	A	2: 111,051,119 (GRCm39)	M226L	probably benign	Het
Ppfia2	G	A	10: 106,666,429 (GRCm39)	M378I	possibly damaging	Het
Ppp1r9a	T	A	6: 5,143,491 (GRCm39)		probably null	Het
Prm3	T	C	16: 10,608,563 (GRCm39)	E64G	possibly damaging	Het
Prmt6	T	C	3: 110,157,887 (GRCm39)	D134G	possibly damaging	Het
Prss42	G	A	9: 110,629,996 (GRCm39)	G250D	probably damaging	Het
Pwwp2b	G	A	7: 138,834,747 (GRCm39)	V63I	probably benign	Het
Rbm17	T	C	2: 11,590,530 (GRCm39)	D375G	possibly damaging	Het
Rhbdl1	A	T	17: 26,055,383 (GRCm39)		probably null	Het
Rims2	T	A	15: 39,155,584 (GRCm39)	D128E	probably benign	Het
Rock2	A	G	12: 17,015,653 (GRCm39)	K850R	probably benign	Het
Rreb1	T	C	13: 38,114,513 (GRCm39)	I624T	probably benign	Het
Rrp36	A	T	17: 46,983,340 (GRCm39)	D91E	probably damaging	Het
Scn7a	C	T	2: 66,527,944 (GRCm39)	D849N	possibly damaging	Het
Sec24a	A	T	11: 51,634,775 (GRCm39)	Y50*	probably null	Het
Sh2d4b	A	G	14: 40,614,921 (GRCm39)	M1T	probably null	Het
Slc4a7	A	G	14: 14,760,247 (GRCm38)	I561V	possibly damaging	Het
Slc7a12	T	C	3: 14,564,337 (GRCm39)	V70A	possibly damaging	Het
Slfnl1	A	T	4: 120,392,972 (GRCm39)	I355F	probably damaging	Het
Spata2	C	T	2: 167,325,439 (GRCm39)	R460H	probably damaging	Het
Stk11ip	C	T	1: 75,505,629 (GRCm39)	Q433*	probably null	Het
Susd1	T	C	4: 59,411,395 (GRCm39)	Y146C	probably damaging	Het
Susd5	A	T	9: 113,897,890 (GRCm39)	D115V	probably damaging	Het
Tas2r110	T	A	6: 132,845,029 (GRCm39)	V20E	probably damaging	Het
Tbc1d4	T	C	14: 101,712,651 (GRCm39)	Y694C	possibly damaging	Het
Tmem131	T	C	1: 36,863,840 (GRCm39)	E640G	probably damaging	Het
Togaram1	A	G	12: 65,068,342 (GRCm39)	T1782A	probably benign	Het
Trim24	T	C	6: 37,892,214 (GRCm39)	L249P	probably damaging	Het
Ttf1	T	C	2: 28,957,164 (GRCm39)	I478T	probably damaging	Het
Upf2	T	A	2: 6,044,908 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,584,285 (GRCm39)	C566S	probably damaging	Het
Vmn1r191	T	C	13: 22,363,262 (GRCm39)	N164S	probably benign	Het
Vmn2r81	T	A	10: 79,104,112 (GRCm39)	V245E	probably damaging	Het
Vwce	T	A	19: 10,630,459 (GRCm39)	F506Y	possibly damaging	Het
Wnt8b	T	C	19: 44,499,715 (GRCm39)	F155L	probably damaging	Het
Xrra1	A	T	7: 99,547,647 (GRCm39)	I279F	probably benign	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zfp607b	C	T	7: 27,391,948 (GRCm39)	H8Y	possibly damaging	Het
Zfp933	A	T	4: 147,910,476 (GRCm39)	H373Q	probably damaging	Het
Zfp938	A	G	10: 82,060,982 (GRCm39)	L546P	probably benign	Het
Zfp988	C	T	4: 147,415,739 (GRCm39)	R58C	probably benign	Het
Zkscan14	C	T	5: 145,138,464 (GRCm39)	V8I	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
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
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'- CCTGGGGTTCAACCTACAGAGGAG -3'
(R):5'- ACTTGGGGTGGGTACTGGAAATAGC -3'

Sequencing Primer
(F):5'- GAGCCCTCAGTTGTGGACTATC -3'
(R):5'- GCAGTTAAATGATTTGTCAACCTGTG -3'

Posted On

2014-05-09