|Institutional Source||Beutler Lab|
|Gene Name||methyl-CpG binding domain protein 2|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1769 (G1)|
|Chromosomal Location||70568189-70626131 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 70616619 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Valine at position 302 (I302V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073701 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074058] [ENSMUST00000127260]|
AA Change: I302V
PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: I302V
|Meta Mutation Damage Score||0.0876|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption sin this gene are grossly normal. Maternal nurturing problems exist however and they are somewhat resistant to dumor development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mbd2||
(F):5'- CACAGTAGGAGGCCATTGAACTGAC -3'
(R):5'- AACCATGTGAGAGCAGCAGTTACAG -3'
(F):5'- GACTTCATTATTCAGCAGCACTG -3'
(R):5'- TGAGATGGAAACCCCTTTGTTC -3'