Mutagenetix > Incidental Mutation

Incidental Mutation 'R7243:Lrig2'

574689

Institutional Source

Beutler Lab

Gene Symbol

Lrig2

Ensembl Gene

ENSMUSG00000032913

Gene Name

leucine-rich repeats and immunoglobulin-like domains 2

Synonyms

4632419I10Rik

MMRRC Submission

045307-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104361296-104419251 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 104404883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142540 (fasta)

Gene Model

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

AlphaFold

Q52KR2

Predicted Effect

probably null
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

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	G	A	11: 69,781,297 (GRCm39)	H103Y	probably benign	Het
Adamdec1	A	G	14: 68,809,203 (GRCm39)	M253T	probably benign	Het
Alox15	C	A	11: 70,241,540 (GRCm39)	G114C	probably null	Het
Aox3	G	T	1: 58,177,466 (GRCm39)	G227V	unknown	Het
Atp8a2	A	T	14: 59,885,291 (GRCm39)	N1144K	probably benign	Het
Cacna1c	C	T	6: 118,614,690 (GRCm39)		probably null	Het
Cog6	A	T	3: 52,909,736 (GRCm39)	W314R	probably damaging	Het
Col5a2	A	G	1: 45,415,320 (GRCm39)	I1473T	probably benign	Het
Csmd1	T	A	8: 15,965,357 (GRCm39)	D3218V	probably damaging	Het
Cyp3a11	A	G	5: 145,795,613 (GRCm39)	M446T	probably damaging	Het
Dhps	A	G	8: 85,801,567 (GRCm39)	Y340C	probably benign	Het
Dnah7b	A	G	1: 46,122,914 (GRCm39)	N108S	probably benign	Het
Dnajb1	C	T	8: 84,337,393 (GRCm39)	P323L	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Dync2h1	G	T	9: 7,102,405 (GRCm39)	T2665K	possibly damaging	Het
Etv1	C	T	12: 38,907,045 (GRCm39)	S349L	probably benign	Het
Fam171a1	A	T	2: 3,119,653 (GRCm39)	T21S	probably benign	Het
Fbh1	T	A	2: 11,756,336 (GRCm39)	T749S	probably benign	Het
Fcho2	T	C	13: 98,891,724 (GRCm39)	D346G	possibly damaging	Het
Fcrl5	A	G	3: 87,349,552 (GRCm39)	H109R	probably benign	Het
Fstl1	A	G	16: 37,647,088 (GRCm39)	S153G	probably benign	Het
Fyb1	T	C	15: 6,673,180 (GRCm39)	F605L	probably benign	Het
Gcat	T	A	15: 78,921,063 (GRCm39)	M363K	possibly damaging	Het
Gm10604	T	C	4: 11,980,113 (GRCm39)	T64A	unknown	Het
Grin2d	A	G	7: 45,515,552 (GRCm39)	L147P	probably damaging	Het
Ift88	A	T	14: 57,667,993 (GRCm39)		probably null	Het
Ighg1	A	T	12: 113,294,066 (GRCm39)	C26S		Het
Ing2	A	G	8: 48,127,574 (GRCm39)	S48P	probably damaging	Het
Kat6a	C	T	8: 23,428,791 (GRCm39)	T1382I	probably benign	Het
Kdm1a	A	G	4: 136,279,265 (GRCm39)	V765A	probably damaging	Het
Klk1b26	T	C	7: 43,665,691 (GRCm39)	S168P	not run	Het
Klk1b26	A	G	7: 43,666,337 (GRCm39)	N260S	probably damaging	Het
Lama3	G	A	18: 12,552,902 (GRCm39)	G438D	probably damaging	Het
Larp6	T	A	9: 60,620,569 (GRCm39)	D27E	probably benign	Het
Lrba	T	A	3: 86,658,823 (GRCm39)		probably null	Het
Megf9	T	C	4: 70,353,708 (GRCm39)	E366G	probably benign	Het
Mob1b	T	A	5: 88,891,304 (GRCm39)	D52E	probably damaging	Het
Ndufb3	A	T	1: 58,630,282 (GRCm39)	H11L	unknown	Het
Odc1	T	G	12: 17,600,058 (GRCm39)	Y407*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	A	G	16: 29,405,814 (GRCm39)	I126M	probably benign	Het
Or2t47	T	C	11: 58,442,227 (GRCm39)	I279M	probably damaging	Het
Or3a1b	T	A	11: 74,012,559 (GRCm39)	V148E	probably damaging	Het
Or51a10	A	G	7: 103,698,962 (GRCm39)	Y200H	probably damaging	Het
Or51f5	A	T	7: 102,430,865 (GRCm39)	T61S	probably benign	Het
Pcca	A	G	14: 123,114,186 (GRCm39)	H633R	probably benign	Het
Pcdhb22	A	G	18: 37,653,685 (GRCm39)	R461G	probably benign	Het
Pcf11	A	T	7: 92,309,268 (GRCm39)	D647E	probably damaging	Het
Plscr1l1	A	G	9: 92,225,726 (GRCm39)	Y16C	probably damaging	Het
Plxnd1	T	A	6: 115,949,468 (GRCm39)	I773F	probably benign	Het
Prl8a1	A	T	13: 27,766,086 (GRCm39)	L3Q	probably damaging	Het
Psg17	C	A	7: 18,552,640 (GRCm39)	G212C	probably damaging	Het
Ptbp2	G	T	3: 119,546,761 (GRCm39)	N40K	possibly damaging	Het
Ptprj	T	C	2: 90,276,765 (GRCm39)	H1102R	probably damaging	Het
Rbfox3	T	C	11: 118,404,100 (GRCm39)	Y33C	probably damaging	Het
Ros1	T	A	10: 51,999,477 (GRCm39)	N1158Y	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,751 (GRCm39)	I710V	probably benign	Het
Scn9a	A	G	2: 66,370,874 (GRCm39)	F569L	probably damaging	Het
Slc12a4	A	T	8: 106,680,552 (GRCm39)	M190K	probably damaging	Het
Slc22a20	G	A	19: 6,021,599 (GRCm39)	R468C	probably damaging	Het
Slc45a2	T	A	15: 11,023,436 (GRCm39)	Y347N	possibly damaging	Het
Slc4a10	A	G	2: 62,134,206 (GRCm39)	Y974C	probably damaging	Het
Snap47	A	G	11: 59,319,548 (GRCm39)	S197P	probably benign	Het
Snph	T	C	2: 151,436,173 (GRCm39)	S252G	probably damaging	Het
Spns2	A	T	11: 72,347,686 (GRCm39)	W335R	probably damaging	Het
Thnsl1	A	G	2: 21,217,658 (GRCm39)	I471V	probably damaging	Het
Tmprss11f	C	A	5: 86,677,975 (GRCm39)	G265C	probably damaging	Het
Tnn	C	T	1: 159,934,687 (GRCm39)	R1242H	probably benign	Het
Tsc2	T	C	17: 24,818,604 (GRCm39)	R1412G	probably benign	Het
Tsc22d2	G	T	3: 58,323,884 (GRCm39)	V259F	unknown	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wls	A	T	3: 159,615,402 (GRCm39)	I306F	possibly damaging	Het
Zfp566	A	G	7: 29,777,701 (GRCm39)	V160A	probably benign	Het
Zfyve28	T	C	5: 34,356,219 (GRCm39)	T761A	probably damaging	Het
Zswim8	G	A	14: 20,764,436 (GRCm39)	R602Q	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
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
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'- CTAAATGTTAATCTCTGGACTCCAC -3'
(R):5'- ACCTTTGTAGGACTTAGTATTCCTG -3'

Sequencing Primer
(F):5'- TGTTAATCTCTGGACTCCACAAGAAC -3'
(R):5'- TGTTTTAGTTTTGTACTTCCTCCC -3'

Posted On

2019-10-03