Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Lemd2'

560903

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 #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27189601-27204438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27196191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 300 (P300L)

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

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

AlphaFold

Q6DVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055117
AA Change: P300L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: P300L

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

Meta Mutation Damage Score

0.1807

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,308,645		probably null	Het
Aass	T	C	6: 23,074,630	K854E	probably damaging	Het
Abcd2	G	T	15: 91,190,682	Y309*	probably null	Het
Ache	G	A	5: 137,291,489	G360D	probably damaging	Het
Acot12	T	C	13: 91,781,242	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303	D603A	probably benign	Het
Adam3	C	A	8: 24,711,401	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,625,028	I925T	probably benign	Het
Arhgap27	C	T	11: 103,360,759	V48M	probably damaging	Het
Atm	A	T	9: 53,512,008		probably null	Het
B4galt4	T	A	16: 38,753,940	F92Y	probably damaging	Het
Brwd1	C	T	16: 96,035,959	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,287,631	R351G	probably damaging	Het
Ccdc80	T	G	16: 45,096,710	S610A	probably benign	Het
Cdh20	C	A	1: 104,954,071	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,278,422	R172*	probably null	Het
Ctnnd1	G	T	2: 84,622,046	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,575,926	L41H	probably damaging	Het
Dclk2	A	T	3: 86,799,602		probably null	Het
Dmwd	C	T	7: 19,080,309	H295Y	probably benign	Het
Dnaic2	T	C	11: 114,757,162	V588A	unknown	Het
Dtx4	C	T	19: 12,482,073		probably null	Het
Dync2h1	C	A	9: 7,141,059	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 28,104,021	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 106,435,073	L724V	possibly damaging	Het
Gm4070	A	C	7: 105,902,179	S555R	possibly damaging	Het
Gm9195	A	G	14: 72,451,752	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,736	K431T	probably damaging	Het
Grm7	T	G	6: 111,358,569	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,411,094	N94S	probably benign	Het
Hmgcs1	G	T	13: 119,701,084	G195W	probably damaging	Het
Hrc	A	T	7: 45,336,565	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 25,919,637	Q863*	probably null	Het
Lnpep	A	T	17: 17,552,910	Y665*	probably null	Het
Lrfn1	A	G	7: 28,467,139	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,067,411	T8A	unknown	Het
Mcm5	T	C	8: 75,121,716		probably null	Het
Med28	A	T	5: 45,523,452	D86V	probably damaging	Het
Mup11	A	G	4: 60,659,726	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,540,198	F383L	probably benign	Het
Nid1	G	C	13: 13,468,385	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892	V147A	probably benign	Het
Olfr361	A	G	2: 37,085,658	V30A	probably benign	Het
Pde9a	G	A	17: 31,420,284	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,174,377	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phf20l1	T	C	15: 66,604,789	I245T	probably benign	Het
Prmt8	C	T	6: 127,689,829	R394H	possibly damaging	Het
Prpf4b	T	A	13: 34,884,011	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225		probably null	Het
Rgs16	T	C	1: 153,741,670	L69P	probably damaging	Het
Robo3	A	T	9: 37,424,724	I482N	probably damaging	Het
Scara3	C	T	14: 65,931,266	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,728,294	H397L	probably benign	Het
Skint11	T	A	4: 114,231,747	L246Q	probably damaging	Het
Skint5	T	A	4: 113,539,339	R1212S	unknown	Het
Slc11a2	T	C	15: 100,402,332	D348G	probably benign	Het
Slc15a2	T	C	16: 36,756,281	K495E	probably benign	Het
Son	T	G	16: 91,662,102	D2072E	unknown	Het
Stau1	A	G	2: 166,963,574	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,116	L153I	possibly damaging	Het
Swi5	A	T	2: 32,287,910	V13E	probably benign	Het
Syne2	A	T	12: 76,031,398		probably null	Het
Synm	T	C	7: 67,734,915	M558V	probably benign	Het
Tep1	T	A	14: 50,824,556		probably null	Het
Tmc6	A	G	11: 117,776,325	V149A	probably benign	Het
Tmem214	T	A	5: 30,870,721	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,850,376		probably null	Het
Txlna	A	G	4: 129,631,278		probably null	Het
Vmn2r26	T	C	6: 124,061,989	I841T	probably damaging	Het
Wasf2	G	A	4: 133,195,734	V452I	probably damaging	Het
Wdr62	C	T	7: 30,252,336	D673N	probably damaging	Het
Wdr78	T	G	4: 103,066,352	I427L	probably benign	Het
Wdr95	C	T	5: 149,595,371	T559I	probably benign	Het
Zbtb40	A	T	4: 136,999,626		probably null	Het
Zfat	T	C	15: 68,180,007	E646G	probably benign	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
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
R9309:Lemd2	UTSW	17	27192962	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTTAGTAGGGCCAGCTCTG -3'
(R):5'- TGCTGCAGAGTGAAGATGCC -3'

Sequencing Primer
(F):5'- ATGGCCCCCTCCACAGTAG -3'
(R):5'- GTGAAGATGCCCCAGAAGCC -3'

Posted On

2019-06-26