|Institutional Source||Beutler Lab|
|Gene Name||charged multivesicular body protein 2B|
|Synonyms||chromatin modifying protein 2B, 1190006E07Rik|
|Is this an essential gene?||Probably essential (E-score: 0.925)|
|Stock #||R9537 (G1)|
|Chromosomal Location||65539128-65562726 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 65551046 bp (GRCm38)|
|Amino Acid Change||Lysine to Glutamic Acid at position 15 (K15E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004965] [ENSMUST00000231259]|
AA Change: K15E
PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: K15E
AA Change: K11E
PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic gene trapped allele display reduced dendritic spine and excitatory synapse density in the hippocampus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chmp2b||
(F):5'- GTAAATCGCTTACCTCTCGTAATTG -3'
(R):5'- AGGCAAATTTCAAAAGCACTGC -3'
(F):5'- CGTAATTGCTTTCTTGCGTTAGC -3'
(R):5'- GCACTGCATATTTGTACAAATCTCTC -3'