Incidental Mutation 'R0909:Chmp5'
ID 83422
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 039067-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0909 (G1)
Quality Score 191
Status Not validated
Chromosome 4
Chromosomal Location 40948553-40965302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 40960968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 202 (N202K)
Ref Sequence ENSEMBL: ENSMUSP00000030128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030128]
AlphaFold Q9D7S9
Predicted Effect probably benign
Transcript: ENSMUST00000030128
AA Change: N202K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030128
Gene: ENSMUSG00000028419
AA Change: N202K

DomainStartEndE-ValueType
Pfam:Snf7 12 197 5.4e-58 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.5%
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T A 19: 3,765,788 (GRCm39) M21K probably benign Het
Ap3s2 T C 7: 79,530,266 (GRCm39) N183S probably benign Het
Cd109 A G 9: 78,543,755 (GRCm39) I100V probably benign Het
Cep170b A G 12: 112,698,473 (GRCm39) K77R probably null Het
Cnbd1 A T 4: 19,122,444 (GRCm39) L15I probably benign Het
Ehmt2 T C 17: 35,125,480 (GRCm39) V542A possibly damaging Het
Exosc9 A T 3: 36,608,853 (GRCm39) I151F probably damaging Het
Eya2 A G 2: 165,596,413 (GRCm39) N308S probably benign Het
Fbxw21 C A 9: 108,985,476 (GRCm39) A101S possibly damaging Het
Frem3 A C 8: 81,390,035 (GRCm39) N1762T probably benign Het
H2-DMb2 C A 17: 34,367,783 (GRCm39) T68N probably benign Het
Hbs1l A G 10: 21,183,637 (GRCm39) E126G probably benign Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mrpl44 G A 1: 79,757,370 (GRCm39) V272I probably benign Het
Msh4 G A 3: 153,569,141 (GRCm39) L723F probably benign Het
Nemf T A 12: 69,388,384 (GRCm39) D329V probably damaging Het
Noxa1 A T 2: 24,981,806 (GRCm39) L99Q probably damaging Het
Nr6a1 A T 2: 38,775,218 (GRCm39) D44E probably benign Het
Obscn T C 11: 58,965,890 (GRCm39) D3131G probably damaging Het
Or10a5 T C 7: 106,635,401 (GRCm39) I13T probably benign Het
Or10c1 T G 17: 37,521,809 (GRCm39) I312L probably benign Het
Or52p2 A T 7: 102,237,654 (GRCm39) C99S probably damaging Het
Pkhd1l1 T A 15: 44,402,279 (GRCm39) probably null Het
Rbsn G A 6: 92,166,791 (GRCm39) Q618* probably null Het
Rccd1 A C 7: 79,968,799 (GRCm39) probably null Het
Scg2 T A 1: 79,413,499 (GRCm39) Q368L possibly damaging Het
Socs5 T A 17: 87,441,201 (GRCm39) L47Q probably benign Het
Ttc16 T C 2: 32,652,880 (GRCm39) T593A probably benign Het
Ube4a T C 9: 44,851,271 (GRCm39) I748V probably damaging Het
Vipas39 T C 12: 87,288,105 (GRCm39) D435G probably benign Het
Vmn2r69 C T 7: 85,055,873 (GRCm39) G755D probably benign Het
Vsnl1 A G 12: 11,376,372 (GRCm39) F171S probably damaging Het
Wbp2nl G A 15: 82,198,275 (GRCm39) A271T probably benign 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
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
R8861:Chmp5 UTSW 4 40,964,608 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATTGACAAGTGAGCCTTTTCCCTTTG -3'
(R):5'- AGCTTGCCCAGCAGTAATAGGAAAAC -3'

Sequencing Primer
(F):5'- TTCTCTACAAGTGGTCTGGC -3'
(R):5'- CGAAATAGTCTTTAGCCTCAGTGG -3'
Posted On 2013-11-08