Incidental Mutation 'R0256:Chmp2b'
ID 34757
Institutional Source Beutler Lab
Gene Symbol Chmp2b
Ensembl Gene ENSMUSG00000004843
Gene Name charged multivesicular body protein 2B
Synonyms 1190006E07Rik, chromatin modifying protein 2B
MMRRC Submission 038487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R0256 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 65336014-65359612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65337078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 193 (T193K)
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: T197K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000004965
Gene: ENSMUSG00000004843
AA Change: T197K

DomainStartEndE-ValueType
Pfam:Snf7 16 186 1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231259
AA Change: T193K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.1113 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.6%
  • 10x: 95.8%
  • 20x: 92.8%
Validation Efficiency 98% (48/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik G T 10: 29,098,252 (GRCm39) L186F probably damaging Het
Abce1 A C 8: 80,412,572 (GRCm39) probably null Het
Acvrl1 A T 15: 101,035,002 (GRCm39) N254Y probably damaging Het
Apip T A 2: 102,918,916 (GRCm39) M72K possibly damaging Het
Arg1 A G 10: 24,792,356 (GRCm39) Y188H probably benign Het
Armc3 A T 2: 19,274,027 (GRCm39) N354Y probably damaging Het
Arrdc5 A G 17: 56,601,382 (GRCm39) F248L probably damaging Het
Atp8b5 T C 4: 43,302,576 (GRCm39) probably benign Het
Bltp1 G T 3: 36,971,922 (GRCm39) V552L probably benign Het
Ccdc154 C T 17: 25,389,606 (GRCm39) A490V probably benign Het
Cdh6 T C 15: 13,053,868 (GRCm39) probably benign Het
Clca3a1 A T 3: 144,436,640 (GRCm39) N814K probably damaging Het
Cmtr1 T C 17: 29,916,098 (GRCm39) L576P probably damaging Het
Fhl5 T C 4: 25,213,624 (GRCm39) H104R probably benign Het
Foxk1 A G 5: 142,439,436 (GRCm39) probably benign Het
Gm11596 T A 11: 99,683,542 (GRCm39) T193S unknown Het
Gm15217 A T 14: 46,617,853 (GRCm39) probably benign Het
Hic2 A G 16: 17,075,377 (GRCm39) I69V probably benign Het
Ivl T C 3: 92,479,150 (GRCm39) D305G probably damaging Het
Kcnn2 A G 18: 45,725,472 (GRCm39) T323A probably damaging Het
Krt7 C T 15: 101,321,190 (GRCm39) Q336* probably null Het
Krt73 T G 15: 101,710,371 (GRCm39) D121A probably damaging Het
Mok T C 12: 110,774,539 (GRCm39) D216G probably damaging Het
Muc17 A G 5: 137,175,539 (GRCm39) C44R probably damaging Het
Muc5b A G 7: 141,395,132 (GRCm39) Y46C unknown Het
Muc5b T C 7: 141,396,995 (GRCm39) F223L unknown Het
Noct A G 3: 51,157,895 (GRCm39) D411G probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5j1 T C 2: 86,879,400 (GRCm39) Y60C probably damaging Het
Or6c76b A T 10: 129,692,906 (GRCm39) D173V probably damaging Het
Pigv T C 4: 133,393,062 (GRCm39) H36R probably damaging Het
Plscr3 A G 11: 69,740,880 (GRCm39) K239E probably damaging Het
Prkag3 T C 1: 74,780,330 (GRCm39) D445G probably benign Het
Ramp1 A T 1: 91,124,641 (GRCm39) probably benign Het
Ror1 T A 4: 100,266,942 (GRCm39) H214Q probably benign Het
Selenbp2 A T 3: 94,607,008 (GRCm39) H156L probably benign Het
Slc28a3 T C 13: 58,721,314 (GRCm39) T284A probably benign Het
Slc35a1 T C 4: 34,668,962 (GRCm39) T284A probably benign Het
Smco2 A T 6: 146,763,244 (GRCm39) I184F probably damaging Het
Son A G 16: 91,453,472 (GRCm39) M740V possibly damaging Het
Stil T A 4: 114,880,882 (GRCm39) N475K possibly damaging Het
Sval3 A G 6: 41,949,839 (GRCm39) D122G probably damaging Het
Tnks A G 8: 35,328,701 (GRCm39) M623T probably benign Het
Zfp142 A G 1: 74,617,317 (GRCm39) V235A probably benign Het
Zfp423 A T 8: 88,500,262 (GRCm39) C1053* probably null Het
Zfp648 T A 1: 154,081,414 (GRCm39) D524E probably benign Het
Other mutations in Chmp2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Chmp2b APN 16 65,359,363 (GRCm39) missense probably benign 0.01
IGL01807:Chmp2b APN 16 65,337,091 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- GGGTGCTTCTACCTAAGAGCCAAAC -3'
(R):5'- AAAACAGCAGCGGCCACTTCTG -3'

Sequencing Primer
(F):5'- CTTTGGCAAAGGATTCAAAGTAGC -3'
(R):5'- CCACTTCTGTTGGTTGTTTGC -3'
Posted On 2013-05-09