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

27408574-27423443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27411936 bp (GRCm39)

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: 88,120,332 (GRCm39)	P363Q	probably damaging	Het
Acy3	C	T	19: 4,038,451 (GRCm39)	R193W	probably damaging	Het
Adam11	C	T	11: 102,663,710 (GRCm39)	T296M	probably damaging	Het
Ak9	T	C	10: 41,192,364 (GRCm39)		probably null	Het
Angpt2	A	T	8: 18,749,172 (GRCm39)	M315K	probably damaging	Het
Bpifa6	A	T	2: 153,834,207 (GRCm39)	D333V	probably benign	Het
Brsk1	T	C	7: 4,709,118 (GRCm39)		probably null	Het
Btn2a2	T	A	13: 23,662,981 (GRCm39)	H323L	probably damaging	Het
Cct8	G	A	16: 87,282,592 (GRCm39)	A442V	probably damaging	Het
Cdc20b	T	C	13: 113,216,472 (GRCm39)	V317A	probably damaging	Het
Cfh	A	T	1: 140,082,249 (GRCm39)	S211T	probably damaging	Het
Chd9	G	A	8: 91,733,319 (GRCm39)	R1396H	unknown	Het
Cobll1	A	G	2: 64,956,271 (GRCm39)	V329A	probably damaging	Het
Cope	T	C	8: 70,755,482 (GRCm39)	V9A	unknown	Het
Ctnnb1	A	T	9: 120,784,504 (GRCm39)	Y432F	probably benign	Het
Ercc6	T	A	14: 32,240,904 (GRCm39)	C143S	probably damaging	Het
H2-M10.1	T	C	17: 36,636,525 (GRCm39)	E93G	probably benign	Het
Haao	T	C	17: 84,146,270 (GRCm39)	E68G	probably damaging	Het
Hbq1b	G	A	11: 32,237,408 (GRCm39)		probably null	Het
Itgb5	T	C	16: 33,740,416 (GRCm39)	Y509H	probably benign	Het
Klc4	T	C	17: 46,947,550 (GRCm39)	N384S	probably damaging	Het
Lrit2	C	A	14: 36,793,848 (GRCm39)	A304E	probably benign	Het
Lrrc7	C	T	3: 157,915,361 (GRCm39)	W218*	probably null	Het
Mrpl39	C	T	16: 84,532,071 (GRCm39)	R12Q	unknown	Het
Msln	A	G	17: 25,970,148 (GRCm39)	V269A	possibly damaging	Het
Nf1	T	G	11: 79,359,595 (GRCm39)	M1411R	possibly damaging	Het
Obscn	C	T	11: 58,943,337 (GRCm39)	E4271K	probably damaging	Het
Optc	G	T	1: 133,825,682 (GRCm39)	S334R	probably benign	Het
Or14j9	A	G	17: 37,875,049 (GRCm39)	L51P	probably damaging	Het
Or5h18	A	G	16: 58,848,186 (GRCm39)	F28S	probably damaging	Het
Or7g26	A	G	9: 19,230,444 (GRCm39)	I211V	probably benign	Het
Patl1	C	A	19: 11,913,082 (GRCm39)	R542S	probably damaging	Het
Pcdhb19	T	C	18: 37,631,858 (GRCm39)	V551A	probably damaging	Het
Pkhd1l1	G	A	15: 44,400,289 (GRCm39)	M2144I	probably benign	Het
Polr3a	T	G	14: 24,510,067 (GRCm39)	N956H	probably benign	Het
Prkdc	C	A	16: 15,526,792 (GRCm39)	C1354*	probably null	Het
Ptpdc1	A	G	13: 48,736,607 (GRCm39)	V721A	probably benign	Het
Ptpro	G	A	6: 137,431,656 (GRCm39)	V1172M	probably damaging	Het
Reln	A	T	5: 22,176,866 (GRCm39)	N1933K	probably benign	Het
Rev1	A	G	1: 38,093,945 (GRCm39)	V1016A	probably damaging	Het
Ryr2	T	G	13: 11,721,578 (GRCm39)	K2618Q	probably damaging	Het
Spata31h1	T	C	10: 82,130,986 (GRCm39)	T675A	probably benign	Het
Tenm3	A	T	8: 48,751,972 (GRCm39)	M948K	probably damaging	Het
Tex48	G	T	4: 63,530,105 (GRCm39)	T38N	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Try10	G	T	6: 41,333,559 (GRCm39)	K101N	probably benign	Het
Ttc6	A	G	12: 57,753,649 (GRCm39)	Y1476C	possibly damaging	Het
Urb2	T	C	8: 124,754,809 (GRCm39)	V172A	probably damaging	Het
Wdfy4	C	T	14: 32,817,313 (GRCm39)	G1544R		Het
Zeb2	T	A	2: 44,892,575 (GRCm39)	E226V	probably damaging	Het
Zfp423	T	A	8: 88,509,688 (GRCm39)	I219F	probably damaging	Het
Zkscan1	A	G	5: 138,091,666 (GRCm39)	D133G	probably damaging	Het
Zscan4b	G	T	7: 10,635,856 (GRCm39)	T157K	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
R1396:Lemd2	UTSW	17	27,409,706 (GRCm39)	missense	probably damaging	1.00
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

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