Mutagenetix > Incidental Mutation

Incidental Mutation 'R1396:Lemd2'

162682

Institutional Source

Beutler Lab

Gene Symbol

Lemd2

Ensembl Gene

ENSMUSG00000044857

Gene Name

LEM domain containing 2

Synonyms

NET25, Lem2

MMRRC Submission

039458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1396 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

27408574-27423443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 27409706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 482 (R482G)

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

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

AlphaFold

Q6DVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055117
AA Change: R482G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: R482G

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 61,001,057 (GRCm39)	P160S	probably benign	Het
Adamts12	G	T	15: 11,311,558 (GRCm39)	D1272Y	probably benign	Het
Akr1c20	A	T	13: 4,557,726 (GRCm39)	V267D	probably damaging	Het
C1s1	A	G	6: 124,508,010 (GRCm39)	S660P	probably damaging	Het
Ccdc202	A	G	14: 96,119,987 (GRCm39)	N248S	probably benign	Het
Ccdc40	A	G	11: 119,122,629 (GRCm39)	T144A	possibly damaging	Het
Cdk20	T	C	13: 64,585,217 (GRCm39)	I167T	probably damaging	Het
Chd6	A	G	2: 160,825,023 (GRCm39)	L1212S	probably damaging	Het
Clock	G	C	5: 76,414,649 (GRCm39)	D15E	probably benign	Het
Clstn2	A	G	9: 97,343,446 (GRCm39)	V667A	probably benign	Het
Cr2	A	T	1: 194,851,561 (GRCm39)		probably null	Het
Cyp2e1	A	G	7: 140,352,992 (GRCm39)	D343G	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Etf1	G	A	18: 35,041,220 (GRCm39)	T298I	possibly damaging	Het
Gm5431	T	C	11: 48,786,261 (GRCm39)		probably benign	Het
Gss	G	A	2: 155,409,641 (GRCm39)	T265I	probably damaging	Het
Heatr1	C	T	13: 12,420,927 (GRCm39)	S406L	possibly damaging	Het
Hgsnat	C	A	8: 26,447,363 (GRCm39)	M310I	possibly damaging	Het
Inpp5b	G	A	4: 124,682,873 (GRCm39)	R598H	probably damaging	Het
Ints2	G	T	11: 86,140,074 (GRCm39)	Q253K	probably damaging	Het
Kng1	A	G	16: 22,897,730 (GRCm39)	M377V	probably benign	Het
Krt72	C	T	15: 101,694,440 (GRCm39)		probably null	Het
Lrpprc	C	T	17: 85,033,731 (GRCm39)	D1049N	possibly damaging	Het
Lrrc49	A	T	9: 60,587,810 (GRCm39)	H117Q	probably damaging	Het
Mcm6	A	T	1: 128,279,213 (GRCm39)	F191Y	probably damaging	Het
Mecom	T	C	3: 30,033,949 (GRCm39)	T252A	possibly damaging	Het
Mgat4e	T	C	1: 134,469,271 (GRCm39)	T258A	probably benign	Het
Mpeg1	A	G	19: 12,440,168 (GRCm39)	N542S	probably damaging	Het
Nln	C	T	13: 104,198,261 (GRCm39)	V184I	probably benign	Het
Nova1	A	C	12: 46,863,676 (GRCm39)	F91L	unknown	Het
Polk	T	C	13: 96,620,716 (GRCm39)	I516V	probably benign	Het
Ppig	C	T	2: 69,579,362 (GRCm39)	P357S	unknown	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rasal2	A	T	1: 156,992,236 (GRCm39)	H552Q	probably damaging	Het
Rnf41	G	A	10: 128,271,440 (GRCm39)	E117K	probably benign	Het
Sbk3	A	G	7: 4,970,452 (GRCm39)	Y306H	possibly damaging	Het
Senp1	A	G	15: 97,974,435 (GRCm39)	S126P	probably benign	Het
Sfr1	A	G	19: 47,722,129 (GRCm39)	K182E	probably benign	Het
Slc25a4	C	A	8: 46,662,325 (GRCm39)	R111L	probably damaging	Het
Slc9c1	A	T	16: 45,393,710 (GRCm39)	Y551F	probably benign	Het
Stard4	A	T	18: 33,339,263 (GRCm39)	N80K	probably damaging	Het
Tbk1	G	A	10: 121,407,821 (GRCm39)	T104M	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tmem102	A	T	11: 69,695,196 (GRCm39)	W259R	probably damaging	Het
Tnk1	A	T	11: 69,743,962 (GRCm39)	C466S	probably benign	Het
Tspoap1	A	C	11: 87,656,946 (GRCm39)	Q307P	probably damaging	Het
Ugt2b35	A	G	5: 87,159,389 (GRCm39)	N528D	possibly damaging	Het
Usp6nl	A	G	2: 6,431,809 (GRCm39)		probably null	Het
Vmn1r203	C	T	13: 22,708,678 (GRCm39)	T153M	probably benign	Het
Vmn1r89	T	A	7: 12,953,938 (GRCm39)	S157T	probably damaging	Het
Vmn2r103	A	T	17: 20,013,230 (GRCm39)	Y117F	probably benign	Het
Vmn2r116	A	C	17: 23,605,115 (GRCm39)	M143L	probably benign	Het
Vmn2r62	A	T	7: 42,414,261 (GRCm39)	D727E	probably damaging	Het
Vps13c	A	G	9: 67,862,304 (GRCm39)	I2974V	probably benign	Het
Wrn	C	T	8: 33,758,847 (GRCm39)	G769D	probably damaging	Het
Zhx3	T	A	2: 160,622,940 (GRCm39)	H409L	possibly damaging	Het

Other mutations in Lemd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Lemd2	APN	17	27,409,702 (GRCm39)	missense	probably damaging	1.00
IGL02161:Lemd2	APN	17	27,409,625 (GRCm39)	missense	probably damaging	1.00
IGL02903:Lemd2	APN	17	27,412,184 (GRCm39)	splice site	probably benign
R0078:Lemd2	UTSW	17	27,422,702 (GRCm39)	missense	probably benign	0.17
R0458:Lemd2	UTSW	17	27,409,627 (GRCm39)	missense	probably damaging	0.99
R3106:Lemd2	UTSW	17	27,420,644 (GRCm39)	missense	probably damaging	1.00
R4319:Lemd2	UTSW	17	27,420,651 (GRCm39)	missense	possibly damaging	0.87
R4930:Lemd2	UTSW	17	27,412,806 (GRCm39)	splice site	probably null
R5172:Lemd2	UTSW	17	27,414,356 (GRCm39)	nonsense	probably null
R5239:Lemd2	UTSW	17	27,422,773 (GRCm39)	missense	possibly damaging	0.53
R6005:Lemd2	UTSW	17	27,409,759 (GRCm39)	missense	probably damaging	1.00
R6196:Lemd2	UTSW	17	27,411,976 (GRCm39)	nonsense	probably null
R6621:Lemd2	UTSW	17	27,414,366 (GRCm39)	missense	probably benign	0.01
R7208:Lemd2	UTSW	17	27,415,165 (GRCm39)	missense	probably damaging	1.00
R7552:Lemd2	UTSW	17	27,412,810 (GRCm39)	critical splice donor site	probably null
R7558:Lemd2	UTSW	17	27,423,137 (GRCm39)	missense	probably benign	0.04
R9054:Lemd2	UTSW	17	27,423,069 (GRCm39)	missense	probably benign
R9309:Lemd2	UTSW	17	27,411,936 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

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

Sequencing Primer
(F):5'- ACCAAAGGTCTGTGTCCTTGC -3'
(R):5'- AGCTCTGTACCAAGGCTTGTG -3'

Posted On

2014-03-17