|Institutional Source||Beutler Lab|
|Gene Name||charged multivesicular body protein 5|
|Synonyms||2210412K09Rik, chromatin modifying protein 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0909 (G1)|
|Chromosomal Location||40948407-40965303 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 40960968 bp|
|Amino Acid Change||Asparagine to Lysine at position 202 (N202K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030128 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030128]|
|Predicted Effect||probably benign
AA Change: N202K
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: N202K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, cardia bifida, impaired chorioallantoic fusion, abnormal somite and neural plate devlopment, accumulation of multivesicular bodies, and impaired endocytosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chmp5||
(F):5'- GATTGACAAGTGAGCCTTTTCCCTTTG -3'
(R):5'- AGCTTGCCCAGCAGTAATAGGAAAAC -3'
(F):5'- TTCTCTACAAGTGGTCTGGC -3'
(R):5'- CGAAATAGTCTTTAGCCTCAGTGG -3'