Incidental Mutation 'R6333:Chmp2b'
ID 513257
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 044487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R6333 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 65336014-65359612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65337136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 178 (M178L)
Ref Sequence ENSEMBL: ENSMUSP00000004965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004965] [ENSMUST00000231259]
AlphaFold Q8BJF9
Predicted Effect possibly damaging
Transcript: ENSMUST00000004965
AA Change: M178L

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000004965
Gene: ENSMUSG00000004843
AA Change: M178L

DomainStartEndE-ValueType
Pfam:Snf7 16 186 1e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000231259
AA Change: M174L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1102 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.9%
  • 20x: 93.2%
Validation Efficiency 98% (50/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik T C 9: 15,203,372 (GRCm39) K111R probably benign Het
Abhd18 A G 3: 40,888,218 (GRCm39) Y354C probably benign Het
Acap1 T C 11: 69,774,427 (GRCm39) I424V possibly damaging Het
AI182371 A T 2: 34,975,281 (GRCm39) I306K probably damaging Het
Asb4 G A 6: 5,423,597 (GRCm39) R248H probably damaging Het
Brd7 T C 8: 89,071,819 (GRCm39) T349A probably damaging Het
Bub1b T C 2: 118,428,944 (GRCm39) probably null Het
Cep85l G A 10: 53,225,197 (GRCm39) Q131* probably null Het
Chrnb3 A G 8: 27,883,355 (GRCm39) N84D probably damaging Het
Clec4b2 A T 6: 123,177,637 (GRCm39) probably null Het
Defa34 T C 8: 22,155,862 (GRCm39) V17A probably benign Het
Dnah3 A T 7: 119,653,856 (GRCm39) L947Q probably damaging Het
Dynlt2a1 G A 17: 15,261,717 (GRCm39) probably benign Het
Ell A G 8: 71,044,188 (GRCm39) Y578C probably damaging Het
Esp36 T A 17: 38,728,135 (GRCm39) M49L probably benign Het
Fbxw19 A T 9: 109,323,751 (GRCm39) W75R probably benign Het
Fcgr4 A G 1: 170,856,838 (GRCm39) Y235C probably damaging Het
Gm10110 A C 14: 90,135,733 (GRCm39) noncoding transcript Het
Gm13030 A T 4: 138,598,708 (GRCm39) probably null Het
Hdac9 T C 12: 34,102,323 (GRCm39) M1058V probably damaging Het
Hsd3b6 A G 3: 98,713,540 (GRCm39) F253S probably damaging Het
Hspg2 T C 4: 137,289,266 (GRCm39) Y3794H probably damaging Het
Mark4 G A 7: 19,177,208 (GRCm39) T207M probably damaging Het
Mme A G 3: 63,249,382 (GRCm39) T304A probably benign Het
Neb A G 2: 52,148,275 (GRCm39) L2657P probably damaging Het
Nufip1 A C 14: 76,349,425 (GRCm39) K152N probably damaging Het
Pcdh1 A G 18: 38,331,860 (GRCm39) V381A probably benign Het
Pdss1 A G 2: 22,791,778 (GRCm39) T30A probably damaging Het
Plrg1 A G 3: 82,964,102 (GRCm39) T12A probably damaging Het
Ppig C T 2: 69,579,902 (GRCm39) H479Y unknown Het
Prokr2 A G 2: 132,215,898 (GRCm39) F188L probably damaging Het
Prss39 A G 1: 34,539,150 (GRCm39) N130S probably benign Het
Ptar1 G A 19: 23,671,686 (GRCm39) D30N possibly damaging Het
Rai14 G T 15: 10,575,022 (GRCm39) Y645* probably null Het
Rnasek T C 11: 70,129,252 (GRCm39) Y67C probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf213 T C 11: 119,354,192 (GRCm39) V4023A probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Sctr T C 1: 119,984,182 (GRCm39) F357L probably damaging Het
Sec14l5 G A 16: 4,984,908 (GRCm39) V85I probably benign Het
Shld2 G A 14: 33,989,565 (GRCm39) T447M probably damaging Het
Sirpd T C 3: 15,385,671 (GRCm39) Y77C probably damaging Het
Spag8 T C 4: 43,653,186 (GRCm39) probably benign Het
Tbc1d2 T C 4: 46,620,736 (GRCm39) D358G possibly damaging Het
Tenm4 A G 7: 96,423,331 (GRCm39) T672A probably damaging Het
Tent2 G A 13: 93,322,821 (GRCm39) Q43* probably null Het
Trmt1l T A 1: 151,329,685 (GRCm39) S543T probably benign Het
Ube4b A G 4: 149,432,494 (GRCm39) F810S probably damaging Het
Vmn2r104 C T 17: 20,249,848 (GRCm39) V808I probably benign Het
Zfp3 T A 11: 70,662,266 (GRCm39) I75N probably benign Het
Zwint A G 10: 72,490,784 (GRCm39) 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
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
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'- TGTAAAAGGAATCTACACCGGAC -3'
(R):5'- AGCCAGGACATCGTGAATCAAG -3'

Sequencing Primer
(F):5'- GGAATCTACACCGGACTCACTTTAG -3'
(R):5'- CCAGGACATCGTGAATCAAGTTCTTG -3'
Posted On 2018-04-27