Mutagenetix > Incidental Mutation

Incidental Mutation 'R9309:Lemd2'

705421

Institutional Source

Beutler Lab

Gene Symbol

Lemd2

Ensembl Gene

ENSMUSG00000044857

Gene Name

LEM domain containing 2

Synonyms

NET25, Lem2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9309 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

27189601-27204438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27192962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 452 (V452E)

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

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

AlphaFold

Q6DVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055117
AA Change: V452E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: V452E

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	A	5: 87,972,473	P363Q	probably damaging	Het
4932415D10Rik	T	C	10: 82,295,152	T675A	probably benign	Het
Acy3	C	T	19: 3,988,451	R193W	probably damaging	Het
Adam11	C	T	11: 102,772,884	T296M	probably damaging	Het
Ak9	T	C	10: 41,316,368		probably null	Het
Angpt2	A	T	8: 18,699,156	M315K	probably damaging	Het
Bpifa6	A	T	2: 153,992,287	D333V	probably benign	Het
Brsk1	T	C	7: 4,706,119		probably null	Het
Btn2a2	T	A	13: 23,478,811	H323L	probably damaging	Het
Cct8	G	A	16: 87,485,704	A442V	probably damaging	Het
Cdc20b	T	C	13: 113,079,938	V317A	probably damaging	Het
Cfh	A	T	1: 140,154,511	S211T	probably damaging	Het
Chd9	G	A	8: 91,006,691	R1396H	unknown	Het
Cobll1	A	G	2: 65,125,927	V329A	probably damaging	Het
Cope	T	C	8: 70,302,832	V9A	unknown	Het
Ctnnb1	A	T	9: 120,955,438	Y432F	probably benign	Het
Ercc6	T	A	14: 32,518,947	C143S	probably damaging	Het
H2-M10.1	T	C	17: 36,325,633	E93G	probably benign	Het
Haao	T	C	17: 83,838,841	E68G	probably damaging	Het
Hbq1b	G	A	11: 32,287,408		probably null	Het
Itgb5	T	C	16: 33,920,046	Y509H	probably benign	Het
Klc4	T	C	17: 46,636,624	N384S	probably damaging	Het
Lrit2	C	A	14: 37,071,891	A304E	probably benign	Het
Lrrc7	C	T	3: 158,209,724	W218*	probably null	Het
Mrpl39	C	T	16: 84,735,183	R12Q	unknown	Het
Msln	A	G	17: 25,751,174	V269A	possibly damaging	Het
Nf1	T	G	11: 79,468,769	M1411R	possibly damaging	Het
Obscn	C	T	11: 59,052,511	E4271K	probably damaging	Het
Olfr112	A	G	17: 37,564,158	L51P	probably damaging	Het
Olfr186	A	G	16: 59,027,823	F28S	probably damaging	Het
Olfr844	A	G	9: 19,319,148	I211V	probably benign	Het
Optc	G	T	1: 133,897,944	S334R	probably benign	Het
Patl1	C	A	19: 11,935,718	R542S	probably damaging	Het
Pcdhb19	T	C	18: 37,498,805	V551A	probably damaging	Het
Pkhd1l1	G	A	15: 44,536,893	M2144I	probably benign	Het
Polr3a	T	G	14: 24,459,999	N956H	probably benign	Het
Prkdc	C	A	16: 15,708,928	C1354*	probably null	Het
Ptpdc1	A	G	13: 48,583,131	V721A	probably benign	Het
Ptpro	G	A	6: 137,454,658	V1172M	probably damaging	Het
Reln	A	T	5: 21,971,868	N1933K	probably benign	Het
Rev1	A	G	1: 38,054,864	V1016A	probably damaging	Het
Ryr2	T	G	13: 11,706,692	K2618Q	probably damaging	Het
Tenm3	A	T	8: 48,298,937	M948K	probably damaging	Het
Tex48	G	T	4: 63,611,868	T38N	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,649,822		probably benign	Het
Try10	G	T	6: 41,356,625	K101N	probably benign	Het
Ttc6	A	G	12: 57,706,863	Y1476C	possibly damaging	Het
Urb2	T	C	8: 124,028,070	V172A	probably damaging	Het
Wdfy4	C	T	14: 33,095,356	G1544R		Het
Zeb2	T	A	2: 45,002,563	E226V	probably damaging	Het
Zfp423	T	A	8: 87,783,060	I219F	probably damaging	Het
Zkscan1	A	G	5: 138,093,404	D133G	probably damaging	Het
Zscan4b	G	T	7: 10,901,929	T157K	possibly 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
R0458:Lemd2	UTSW	17	27190653	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TCTTCTGCCACAAAGCCAAG -3'
(R):5'- TGCTGATCCTCCTGAAGTACC -3'

Sequencing Primer
(F):5'- AAAGCCAAGCCAGCAGC -3'
(R):5'- ATCCTCCTGAAGTACCGCTGG -3'

Posted On

2022-03-25