Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Lemd2'

263085

Institutional Source

Beutler Lab

Gene Symbol

Lemd2

Ensembl Gene

ENSMUSG00000044857

Gene Name

LEM domain containing 2

Synonyms

NET25, Lem2

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27408574-27423443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27420644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 256 (L256F)

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

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

AlphaFold

Q6DVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055117
AA Change: L256F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: L256F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180434

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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
Abca15	A	T	7: 119,995,856 (GRCm39)	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts17	T	A	7: 66,774,820 (GRCm39)	S980T	probably damaging	Het
Adarb1	C	A	10: 77,157,591 (GRCm39)	K285N	probably damaging	Het
Atp5f1c	A	G	2: 10,068,276 (GRCm39)	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Btf3	T	G	13: 98,447,496 (GRCm39)	E145D	probably benign	Het
Ccdc184	G	T	15: 98,066,482 (GRCm39)	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,481,248 (GRCm39)	Y332H	probably benign	Het
Clip2	T	C	5: 134,551,918 (GRCm39)	K68R	probably benign	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Dennd3	C	A	15: 73,436,973 (GRCm39)	S118*	probably null	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,524,625 (GRCm39)	K249*	probably null	Het
Dzip1l	A	G	9: 99,529,174 (GRCm39)	E301G	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
H1f2	G	T	13: 23,922,883 (GRCm39)	A18S	unknown	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or4g17	A	G	2: 111,209,840 (GRCm39)	N165S	probably benign	Het
Or5w13	T	C	2: 87,523,849 (GRCm39)	I126V	probably damaging	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pan3	T	C	5: 147,476,189 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,235,212 (GRCm39)		probably null	Het
Plekha7	C	T	7: 115,763,639 (GRCm39)	R321K	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Pramel31	T	C	4: 144,088,246 (GRCm39)	V14A	probably benign	Het
Ptpn20	A	G	14: 33,334,253 (GRCm39)	I44V	probably benign	Het
Ptprj	T	A	2: 90,270,975 (GRCm39)	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,067,133 (GRCm39)	L531S	probably damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn2r129	T	A	4: 156,685,730 (GRCm39)		noncoding transcript	Het
Wdr19	T	C	5: 65,359,966 (GRCm39)	S24P	probably benign	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
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'- AACATCGTCACAGAACATGATGTG -3'
(R):5'- TGTACAGCTGGAAAGAGGCC -3'

Sequencing Primer
(F):5'- CAGAACATGATGTGATTCCGGTAC -3'
(R):5'- TGGAAAGAGGCCCCAGCTAC -3'

Posted On

2015-02-05