Incidental Mutation 'R8861:Chmp5'
ID 675648
Institutional Source Beutler Lab
Gene Symbol Chmp5
Ensembl Gene ENSMUSG00000028419
Gene Name charged multivesicular body protein 5
Synonyms 2210412K09Rik, chromatin modifying protein 5
MMRRC Submission 068740-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8861 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 40948553-40965302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40964608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 208 (V208E)
Ref Sequence ENSEMBL: ENSMUSP00000030128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030128]
AlphaFold Q9D7S9
Predicted Effect probably damaging
Transcript: ENSMUST00000030128
AA Change: V208E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030128
Gene: ENSMUSG00000028419
AA Change: V208E

DomainStartEndE-ValueType
Pfam:Snf7 12 197 5.4e-58 PFAM
Meta Mutation Damage Score 0.1327 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
MGI Phenotype 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
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,396,642 (GRCm39) probably benign Het
Acly A G 11: 100,375,424 (GRCm39) probably null Het
Agap2 T G 10: 126,926,383 (GRCm39) V896G unknown Het
Agtpbp1 T C 13: 59,643,287 (GRCm39) Y724C probably damaging Het
Angpt4 A G 2: 151,767,373 (GRCm39) N135D probably damaging Het
Aox3 T A 1: 58,189,460 (GRCm39) I387K probably benign Het
Bysl T C 17: 47,917,884 (GRCm39) E103G probably benign Het
Cdcp3 A T 7: 130,861,690 (GRCm39) K1168* probably null Het
Chst9 T G 18: 15,585,630 (GRCm39) H311P possibly damaging Het
Cilk1 T A 9: 78,071,844 (GRCm39) N505K probably benign Het
Dcaf11 C A 14: 55,801,955 (GRCm39) Y235* probably null Het
Dlx5 A C 6: 6,878,233 (GRCm39) S266A probably benign Het
Dnah7b T A 1: 46,280,236 (GRCm39) S2722T possibly damaging Het
Drc1 G A 5: 30,521,839 (GRCm39) probably benign Het
En2 T A 5: 28,371,733 (GRCm39) I70N probably damaging Het
Fam72a T C 1: 131,466,656 (GRCm39) Y147H possibly damaging Het
Fermt2 A T 14: 45,697,466 (GRCm39) F628L possibly damaging Het
Fkrp T A 7: 16,544,749 (GRCm39) D371V probably damaging Het
Fmn1 T C 2: 113,195,149 (GRCm39) L283P unknown Het
Gm13271 G A 4: 88,673,366 (GRCm39) V88I probably benign Het
Gnmt G A 17: 47,037,618 (GRCm39) T120M probably damaging Het
H2-T22 A T 17: 36,353,290 (GRCm39) V10D possibly damaging Het
Hbs1l T A 10: 21,220,963 (GRCm39) probably benign Het
Igf2bp3 A C 6: 49,082,550 (GRCm39) M344R possibly damaging Het
Kdm1b T C 13: 47,217,582 (GRCm39) V347A probably benign Het
Klra17 A T 6: 129,851,865 (GRCm39) S2R probably damaging Het
Klri1 A G 6: 129,675,164 (GRCm39) S199P probably benign Het
Ltk T A 2: 119,590,094 (GRCm39) Q44L probably benign Het
Map3k20 C A 2: 72,219,811 (GRCm39) probably benign Het
Matn4 A T 2: 164,234,825 (GRCm39) Y549N Het
Mcoln3 T A 3: 145,845,159 (GRCm39) F452I probably damaging Het
Mipol1 T C 12: 57,352,802 (GRCm39) V47A probably benign Het
Msh4 A G 3: 153,607,105 (GRCm39) L145S probably benign Het
Myh11 A T 16: 14,064,646 (GRCm39) I224N Het
Nat8f1 A G 6: 85,887,444 (GRCm39) L172P probably damaging Het
Ncoa7 T A 10: 30,567,364 (GRCm39) K438I probably benign Het
Nr1h3 T G 2: 91,024,026 (GRCm39) probably benign Het
Nuggc T C 14: 65,847,484 (GRCm39) probably null Het
Or4b12 T C 2: 90,096,803 (GRCm39) probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or7h8 A T 9: 20,124,377 (GRCm39) H244L probably damaging Het
Pfn4 T A 12: 4,825,456 (GRCm39) Y98N probably benign Het
Ppp6r2 T G 15: 89,143,368 (GRCm39) C172G probably damaging Het
Ptprk A G 10: 28,446,186 (GRCm39) D979G probably damaging Het
Rbm28 A G 6: 29,152,284 (GRCm39) I329T probably damaging Het
Rnf144a T C 12: 26,389,343 (GRCm39) T33A probably damaging Het
Rnf145 A G 11: 44,445,984 (GRCm39) T273A probably damaging Het
Rnf213 G A 11: 119,333,062 (GRCm39) R2758H Het
Slc22a19 A T 19: 7,660,324 (GRCm39) M362K possibly damaging Het
Slc29a4 G C 5: 142,704,580 (GRCm39) R374P probably damaging Het
Slc43a1 A G 2: 84,691,748 (GRCm39) T528A possibly damaging Het
Sp3 A T 2: 72,801,630 (GRCm39) Y172N probably damaging Het
Srpra T A 9: 35,127,045 (GRCm39) M573K probably benign Het
Steap4 A G 5: 8,025,672 (GRCm39) I78V probably benign Het
Sulf2 A G 2: 165,974,606 (GRCm39) L26P possibly damaging Het
Taok2 T C 7: 126,470,615 (GRCm39) K738E probably damaging Het
Tcea3 G A 4: 135,981,810 (GRCm39) R56H probably damaging Het
Tcf20 A G 15: 82,736,726 (GRCm39) V1575A probably damaging Het
Togaram1 T G 12: 65,027,406 (GRCm39) S798R possibly damaging Het
Other mutations in Chmp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03077:Chmp5 APN 4 40,952,438 (GRCm39) missense probably benign 0.34
R0480:Chmp5 UTSW 4 40,948,690 (GRCm39) unclassified probably benign
R0831:Chmp5 UTSW 4 40,949,500 (GRCm39) missense probably damaging 1.00
R0909:Chmp5 UTSW 4 40,960,968 (GRCm39) missense probably benign 0.00
R5052:Chmp5 UTSW 4 40,948,608 (GRCm39) start codon destroyed probably null 0.54
R5795:Chmp5 UTSW 4 40,950,562 (GRCm39) critical splice donor site probably null
R7121:Chmp5 UTSW 4 40,952,217 (GRCm39) splice site probably null
R7749:Chmp5 UTSW 4 40,949,488 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCGCAGTTCCTGATTTATGAAGC -3'
(R):5'- CCAAAAGCAATGAATTCCTTAACGG -3'

Sequencing Primer
(F):5'- CAGTTCCTGATTTATGAAGCAAGCCC -3'
(R):5'- TGGCAGATCGGGAACTAT -3'
Posted On 2021-07-15