Incidental Mutation 'R6435:Chmp2a'
ID 518741
Institutional Source Beutler Lab
Gene Symbol Chmp2a
Ensembl Gene ENSMUSG00000033916
Gene Name charged multivesicular body protein 2A
Synonyms 1500016L11Rik, chromatin modifying protein 2A
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 12765933-12768704 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 12766701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 72 (Y72*)
Ref Sequence ENSEMBL: ENSMUSP00000148218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000165394] [ENSMUST00000125964] [ENSMUST00000210587] [ENSMUST00000211626] [ENSMUST00000211369] [ENSMUST00000211344]
AlphaFold Q9DB34
Predicted Effect probably benign
Transcript: ENSMUST00000005705
SMART Domains Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
low complexity region 37 57 N/A INTRINSIC
RING 66 121 1.2e-7 SMART
BBOX 149 196 2.97e-12 SMART
BBOX 205 246 1.11e-11 SMART
BBC 253 379 7.92e-39 SMART
low complexity region 420 432 N/A INTRINSIC
low complexity region 525 551 N/A INTRINSIC
low complexity region 555 576 N/A INTRINSIC
PHD 627 670 2.16e-9 SMART
RING 628 669 8.32e0 SMART
BROMO 697 801 6.5e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000005711
AA Change: Y72*
SMART Domains Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916
AA Change: Y72*

DomainStartEndE-ValueType
Pfam:Snf7 17 187 9.5e-50 PFAM
coiled coil region 196 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000005714
SMART Domains Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 32 173 8.83e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123541
SMART Domains Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 1 162 2.43e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125136
Predicted Effect probably benign
Transcript: ENSMUST00000165394
SMART Domains Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 2 76 4.51e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142421
Predicted Effect probably benign
Transcript: ENSMUST00000125964
SMART Domains Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 20 161 3.67e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156389
SMART Domains Protein: ENSMUSP00000117123
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
PDB:2NVU|C 69 138 4e-38 PDB
SCOP:d2e2c__ 83 136 2e-8 SMART
Blast:UBCc 92 138 4e-27 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149061
Predicted Effect probably null
Transcript: ENSMUST00000210587
AA Change: Y72*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209577
Predicted Effect probably benign
Transcript: ENSMUST00000211626
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Predicted Effect probably benign
Transcript: ENSMUST00000211344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209487
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHMP2A 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]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging Het
Other mutations in Chmp2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Chmp2a APN 7 12,767,782 (GRCm39) nonsense probably null
IGL03305:Chmp2a APN 7 12,766,082 (GRCm39) missense possibly damaging 0.83
kestrel UTSW 7 12,766,601 (GRCm39) missense probably damaging 0.98
R0631:Chmp2a UTSW 7 12,766,371 (GRCm39) missense probably damaging 1.00
R1927:Chmp2a UTSW 7 12,767,863 (GRCm39) missense possibly damaging 0.92
R5209:Chmp2a UTSW 7 12,766,601 (GRCm39) missense probably damaging 0.98
R5568:Chmp2a UTSW 7 12,767,758 (GRCm39) missense probably benign 0.45
R5620:Chmp2a UTSW 7 12,766,237 (GRCm39) missense probably benign 0.00
R5830:Chmp2a UTSW 7 12,766,039 (GRCm39) missense probably damaging 0.99
R8891:Chmp2a UTSW 7 12,767,840 (GRCm39) missense probably benign 0.01
R9163:Chmp2a UTSW 7 12,766,645 (GRCm39) missense possibly damaging 0.85
R9653:Chmp2a UTSW 7 12,766,456 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGCTTGAAGGTCAATGGG -3'
(R):5'- TGCCTATAGTCCCCTCATTAAGG -3'

Sequencing Primer
(F):5'- CTTGAAGGTCAATGGGGATGG -3'
(R):5'- CCTCATTAAGGGAGGTTTGAGGC -3'
Posted On 2018-05-24