|Institutional Source||Beutler Lab|
|Gene Name||LEM domain containing 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6005 (G1)|
|Chromosomal Location||27189601-27204438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 27190785 bp|
|Amino Acid Change||Arginine to Proline at position 464 (R464P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058221 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055117]|
|Predicted Effect||probably damaging
AA Change: R464P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R464P
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
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||
|Other mutations in Lemd2||
(F):5'- GAATGAGCACCAAAGGTCTGTG -3'
(R):5'- TCTGTACCAAGGCTTGTGGC -3'
(F):5'- GCACCAAAGGTCTGTGTCCTTG -3'
(R):5'- AAGGCTTGTGGCGCACAG -3'