Incidental Mutation 'IGL01596:Chmp2b'
ID 91950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp2b
Ensembl Gene ENSMUSG00000004843
Gene Name charged multivesicular body protein 2B
Synonyms 1190006E07Rik, chromatin modifying protein 2B
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # IGL01596
Quality Score
Status
Chromosome 16
Chromosomal Location 65336014-65359612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65359363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 11 (D11G)
Ref Sequence ENSEMBL: ENSMUSP00000004965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004965] [ENSMUST00000231259]
AlphaFold Q8BJF9
Predicted Effect probably benign
Transcript: ENSMUST00000004965
AA Change: D11G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000004965
Gene: ENSMUSG00000004843
AA Change: D11G

DomainStartEndE-ValueType
Pfam:Snf7 16 186 1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231259
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T C 3: 137,932,003 (GRCm39) S206P probably damaging Het
Arhgef10 G T 8: 15,049,468 (GRCm39) E869* probably null Het
C87436 T A 6: 86,423,201 (GRCm39) D258E probably damaging Het
Casp8ap2 A G 4: 32,646,365 (GRCm39) K1813E probably damaging Het
Cd209b T A 8: 3,968,744 (GRCm39) D304V probably damaging Het
Comp A G 8: 70,831,285 (GRCm39) N384S probably damaging Het
Dbnl A G 11: 5,748,279 (GRCm39) Y336C probably damaging Het
Faf2 G T 13: 54,769,716 (GRCm39) Q21H probably null Het
Fam117b A T 1: 59,992,130 (GRCm39) K260* probably null Het
Gramd1b A G 9: 40,214,809 (GRCm39) L379P probably damaging Het
Iars1 A G 13: 49,856,652 (GRCm39) N302D probably benign Het
Kcnh6 C T 11: 105,917,572 (GRCm39) T702I probably benign Het
Kdelr2 A G 5: 143,398,330 (GRCm39) Y59C probably damaging Het
Mgam T C 6: 40,635,204 (GRCm39) Y300H probably damaging Het
Or3a1d T C 11: 74,238,245 (GRCm39) E55G possibly damaging Het
Or4e1 C T 14: 52,700,822 (GRCm39) V215M probably damaging Het
Or4k40 A G 2: 111,251,237 (GRCm39) S20P probably benign Het
Pcdh17 T C 14: 84,685,632 (GRCm39) W700R probably damaging Het
Pigq T G 17: 26,146,660 (GRCm39) H615P possibly damaging Het
Pkhd1l1 T A 15: 44,392,806 (GRCm39) S1714T possibly damaging Het
Polr1b G T 2: 128,952,046 (GRCm39) R358I probably benign Het
Tmprss11a C A 5: 86,570,378 (GRCm39) V194F probably damaging Het
Trhr T C 15: 44,092,708 (GRCm39) I315T probably damaging Het
Ttc38 G A 15: 85,720,274 (GRCm39) V79M possibly damaging Het
Ubr4 T A 4: 139,189,845 (GRCm39) probably benign Het
Vmn2r45 T C 7: 8,486,272 (GRCm39) T339A probably damaging Het
Vps53 A G 11: 75,953,863 (GRCm39) F501S probably damaging Het
Other mutations in Chmp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01807:Chmp2b APN 16 65,337,091 (GRCm39) missense probably benign
R0256:Chmp2b UTSW 16 65,337,078 (GRCm39) missense probably benign 0.18
R1688:Chmp2b UTSW 16 65,347,922 (GRCm39) missense probably benign 0.00
R1923:Chmp2b UTSW 16 65,342,213 (GRCm39) missense possibly damaging 0.56
R2155:Chmp2b UTSW 16 65,343,877 (GRCm39) missense probably benign 0.09
R4845:Chmp2b UTSW 16 65,347,862 (GRCm39) missense probably damaging 0.99
R5559:Chmp2b UTSW 16 65,337,316 (GRCm39) missense probably damaging 1.00
R6333:Chmp2b UTSW 16 65,337,136 (GRCm39) missense possibly damaging 0.75
R6473:Chmp2b UTSW 16 65,343,758 (GRCm39) missense probably damaging 1.00
R7142:Chmp2b UTSW 16 65,343,794 (GRCm39) nonsense probably null
R7339:Chmp2b UTSW 16 65,342,232 (GRCm39) nonsense probably null
R7761:Chmp2b UTSW 16 65,343,745 (GRCm39) missense possibly damaging 0.48
R8034:Chmp2b UTSW 16 65,343,769 (GRCm39) missense probably benign 0.33
R8780:Chmp2b UTSW 16 65,359,422 (GRCm39) unclassified probably benign
R9537:Chmp2b UTSW 16 65,347,932 (GRCm39) missense probably benign 0.05
Posted On 2013-12-09