Mutagenetix > Incidental Mutation

Incidental Mutation 'R7558:Lemd2'

615894

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 #

R7558 (G1)

Quality Score

43.0073

Status

Validated

Chromosome

Chromosomal Location

27189601-27204438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27204163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 86 (A86S)

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

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

AlphaFold

Q6DVA0

Predicted Effect

probably benign
Transcript: ENSMUST00000055117
AA Change: A86S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: A86S

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,516,285		probably null	Het
2410089E03Rik	C	T	15: 8,225,367	R13C	unknown	Het
Adgrg6	A	T	10: 14,431,607	M817K	probably damaging	Het
Adh6b	T	A	3: 138,352,536	D53E	probably benign	Het
Ap3d1	A	G	10: 80,722,921	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,855,610	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,254,672	Y28C	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Chrd	T	A	16: 20,738,554	V641E	probably damaging	Het
Clvs2	A	T	10: 33,543,464	I198N	probably damaging	Het
Dbndd2	T	C	2: 164,490,216	S120P	probably benign	Het
Dsg2	G	A	18: 20,594,234	V613I	probably benign	Het
Dsp	A	G	13: 38,168,766	M207V	probably benign	Het
Fignl2	T	C	15: 101,054,383	E6G	probably damaging	Het
Fmod	A	G	1: 134,040,993	Y257C	probably benign	Het
Foxk2	T	C	11: 121,288,058	S239P	probably benign	Het
Fstl5	C	T	3: 76,429,785	T217I	possibly damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm45140	G	A	6: 87,821,529	S34F		Het
H2-Q6	A	G	17: 35,425,619	E128G	probably benign	Het
Hmmr	A	G	11: 40,733,329	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497	N239K	probably damaging	Het
Itpr2	G	T	6: 146,390,865	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,523,190	I736F	probably damaging	Het
Kctd11	A	T	11: 69,879,590	H207Q	probably benign	Het
Kif16b	A	T	2: 142,758,826	D462E	probably damaging	Het
Kif5a	G	A	10: 127,248,079	T81I	probably damaging	Het
Lrp1b	T	C	2: 41,341,936	D1174G		Het
Lrrc8b	G	T	5: 105,481,711	W641L	probably damaging	Het
Malt1	T	C	18: 65,462,834	C438R	probably damaging	Het
March8	T	C	6: 116,403,565	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,486,385		probably null	Het
Nyap2	A	T	1: 81,269,373	T679S	probably benign	Het
Olfr1469	T	A	19: 13,410,991	C141S	probably damaging	Het
Olfr503	C	G	7: 108,544,721	Y65*	probably null	Het
Otog	C	A	7: 46,303,160	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,294,620	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,272,623	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,464,992	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,154,179	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,175,836	R436C	probably damaging	Het
Rpap1	A	T	2: 119,771,254	F742I	probably benign	Het
Ryr2	G	A	13: 11,799,825	T687M	probably damaging	Het
Sec16a	A	T	2: 26,439,734	F7L		Het
Slc14a2	A	G	18: 78,192,119	I143T	probably benign	Het
Slc22a26	T	A	19: 7,785,286	M430L	possibly damaging	Het
Smarcc1	C	A	9: 110,147,116	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,374,510	I375T	probably benign	Het
Tmprss15	T	C	16: 79,003,414	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,680,085	Q739K	probably benign	Het
Trio	T	A	15: 27,831,394	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,778,665	F91L	probably damaging	Het
Vax1	T	C	19: 59,169,984	T16A	unknown	Het
Vps13d	T	G	4: 145,154,580	H1481P		Het
Zbtb7a	A	G	10: 81,148,435	*570W	probably null	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
R9054:Lemd2	UTSW	17	27204095	missense	probably benign
R9309:Lemd2	UTSW	17	27192962	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAAAGTGAGGGTCTGCAGTC -3'
(R):5'- ACGTCTACCGCAACAAGCTG -3'

Sequencing Primer
(F):5'- GAGGGCTTGCCCATCTTCAC -3'
(R):5'- CAACAAGCTGCGCCGCC -3'

Posted On

2020-01-10