Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Lemd2'

41338

Institutional Source

Beutler Lab

Gene Symbol

Lemd2

Ensembl Gene

ENSMUSG00000044857

Gene Name

LEM domain containing 2

Synonyms

NET25, Lem2

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27189601-27204438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27190653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 508 (D508G)

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055117]

AlphaFold

Q6DVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055117
AA Change: D508G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: D508G

Domain	Start	End	E-Value	Type
LEM	1	42	2.19e-16	SMART
low complexity region	65	86	N/A	INTRINSIC
low complexity region	91	112	N/A	INTRINSIC
low complexity region	172	183	N/A	INTRINSIC
transmembrane domain	221	239	N/A	INTRINSIC
Pfam:MSC	251	503	7.3e-21	PFAM

Meta Mutation Damage Score

0.3672

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for a gene-trapped allele die by E11.5 exhibiting reduced embryo size and cell density in neural tissue and mesenchyme, underdeveloped cardiac and neural tissue, and hyperactivation of MAPK and AKT signaling. Heterozygotes show a modest delayin cardiotoxin-induced muscle regeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,321,107	I98V	probably benign	Het
4933407L21Rik	A	G	1: 85,929,026	E8G	unknown	Het
9130008F23Rik	T	C	17: 40,880,236	T101A	probably benign	Het
Abcb8	C	T	5: 24,406,233	T455I	probably benign	Het
Abcb9	C	A	5: 124,082,146		probably null	Het
Akp3	T	G	1: 87,126,537	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,752,408	D109V	probably damaging	Het
Aurka	C	A	2: 172,370,446	E4*	probably null	Het
Cacna1g	T	A	11: 94,409,440	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,781,972		probably benign	Het
Cfap61	T	C	2: 146,008,917	V325A	probably benign	Het
Clasp2	T	A	9: 113,906,224		probably null	Het
Crim1	T	A	17: 78,313,226	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,174,043	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,161,878	V399A	possibly damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,903,290	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,308,867		probably benign	Het
Epn2	C	A	11: 61,546,455	R97L	possibly damaging	Het
Fzd6	G	A	15: 39,031,281	A281T	probably damaging	Het
Garem2	T	A	5: 30,114,182	I214N	probably damaging	Het
Glg1	A	G	8: 111,160,606		probably benign	Het
Golm1	T	C	13: 59,664,364	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,332,033	R12L	probably benign	Het
Gstm1	T	A	3: 108,017,363	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,644,134	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,476,381	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Icam1	A	G	9: 21,027,861		probably null	Het
Itga9	T	C	9: 118,681,028		probably null	Het
Kif15	T	C	9: 123,009,359	F1121L	probably benign	Het
Klhl30	T	A	1: 91,360,996		probably benign	Het
Ldlrad1	T	C	4: 107,216,190	C141R	probably damaging	Het
Lilra5	A	C	7: 4,238,219	T52P	probably benign	Het
Lrtm2	G	A	6: 119,317,268	P301S	probably damaging	Het
Mcoln2	A	G	3: 146,150,013		probably benign	Het
Mkrn2os	A	G	6: 115,586,670	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,133,370	V607A	probably benign	Het
Mmadhc	T	C	2: 50,281,161	Y213C	probably benign	Het
Mpo	C	A	11: 87,796,297	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,020,177	I310M	probably damaging	Het
Muc5b	C	A	7: 141,864,972	A3885D	probably benign	Het
Mvp	A	G	7: 126,998,491	W152R	probably damaging	Het
Nmur2	A	T	11: 56,040,568	F106I	possibly damaging	Het
Nr3c2	T	A	8: 76,909,538	F423I	probably damaging	Het
Olfr1030	A	G	2: 85,984,256	S139G	probably benign	Het
Olfr1500	G	T	19: 13,828,229	H56N	probably benign	Het
Olfr355	A	G	2: 36,927,337	V259A	probably damaging	Het
Olfr894	G	A	9: 38,219,048	C75Y	probably damaging	Het
Pappa	A	G	4: 65,155,882	I224M	probably damaging	Het
Prex1	A	C	2: 166,585,823	S800A	probably damaging	Het
Prkaca	T	C	8: 83,995,282		probably benign	Het
Ptpru	A	T	4: 131,799,675	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,886,998		probably null	Het
Rbms2	C	T	10: 128,151,189	C50Y	probably damaging	Het
Rd3	C	T	1: 191,977,453	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,257	I247L	probably benign	Het
Sf3b3	A	G	8: 110,812,136		probably benign	Het
Slc35c1	A	T	2: 92,454,513	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,363,469		probably null	Het
Snx6	G	T	12: 54,768,136	Y17*	probably null	Het
Sox6	C	A	7: 115,489,794	R611L	probably damaging	Het
Spata13	G	A	14: 60,692,043	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,904,959	A483D	probably damaging	Het
Stat1	C	T	1: 52,149,052		probably benign	Het
Tab2	A	T	10: 7,919,555	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 156,030,407	N213S	probably damaging	Het
Trim39	T	C	17: 36,261,512	K300E	probably damaging	Het
Tubal3	T	C	13: 3,933,137	S306P	probably damaging	Het
Ufm1	A	G	3: 53,861,234	L33P	probably damaging	Het
Washc4	G	A	10: 83,546,799	V26I	possibly damaging	Het
Wfs1	A	G	5: 36,968,669	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,423,476	V109A	probably damaging	Het
Zfp667	T	C	7: 6,304,845	S171P	probably benign	Het
Zkscan5	T	A	5: 145,205,471	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,718,897	R1128W	probably damaging	Het

Other mutations in Lemd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Lemd2	APN	17	27190728	missense	probably damaging	1.00
IGL02161:Lemd2	APN	17	27190651	missense	probably damaging	1.00
IGL02903:Lemd2	APN	17	27193210	splice site	probably benign
R0078:Lemd2	UTSW	17	27203728	missense	probably benign	0.17
R1396:Lemd2	UTSW	17	27190732	missense	probably damaging	1.00
R3106:Lemd2	UTSW	17	27201670	missense	probably damaging	1.00
R4319:Lemd2	UTSW	17	27201677	missense	possibly damaging	0.87
R4930:Lemd2	UTSW	17	27193832	splice site	probably null
R5172:Lemd2	UTSW	17	27195382	nonsense	probably null
R5239:Lemd2	UTSW	17	27203799	missense	possibly damaging	0.53
R6005:Lemd2	UTSW	17	27190785	missense	probably damaging	1.00
R6196:Lemd2	UTSW	17	27193002	nonsense	probably null
R6621:Lemd2	UTSW	17	27195392	missense	probably benign	0.01
R7208:Lemd2	UTSW	17	27196191	missense	probably damaging	1.00
R7552:Lemd2	UTSW	17	27193836	critical splice donor site	probably null
R7558:Lemd2	UTSW	17	27204163	missense	probably benign	0.04
R9054:Lemd2	UTSW	17	27204095	missense	probably benign
R9309:Lemd2	UTSW	17	27192962	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTTCTCCCGGCTACCCTAAGTAAG -3'
(R):5'- TGCATCTGAGCTAAGCACAGTCCC -3'

Sequencing Primer
(F):5'- TAAGTAAGCCCACATGTTCCAG -3'
(R):5'- TAGAGCTTAGGAATGCCCGC -3'

Posted On

2013-05-23