|Institutional Source||Beutler Lab|
|Gene Name||lamin B2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9063 (G1)|
|Chromosomal Location||80901203-80918245 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 80906171 bp (GRCm38)|
|Amino Acid Change||Valine to Methionine at position 29 (V29M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100969 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000179022]|
AA Change: V29M
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V29M
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lmnb2||
(F):5'- AATAGACTCTAGCCCAGGGATC -3'
(R):5'- CCAATAGAGCTTCAGTGTAGAGC -3'
(F):5'- ACTCTAGCCCAGGGATCTAGGG -3'
(R):5'- AGCTTCAGTGTAGAGCCCTGTG -3'