Incidental Mutation 'IGL01807:Chmp2b'
ID 155702
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 # IGL01807
Quality Score
Status
Chromosome 16
Chromosomal Location 65336014-65359612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65337091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 189 (T189S)
Ref Sequence ENSEMBL: ENSMUSP00000156381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004965] [ENSMUST00000231259]
AlphaFold Q8BJF9
Predicted Effect probably benign
Transcript: ENSMUST00000004965
AA Change: T193S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004965
Gene: ENSMUSG00000004843
AA Change: T193S

DomainStartEndE-ValueType
Pfam:Snf7 16 186 1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231259
AA Change: T189S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null Het
Other mutations in Chmp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Chmp2b APN 16 65,359,363 (GRCm39) missense probably benign 0.01
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 2014-02-04