Incidental Mutation 'R9163:Chmp2a'
ID 695839
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 068975-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R9163 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 12765933-12768704 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12766645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 91 (Q91L)
Ref Sequence ENSEMBL: ENSMUSP00000005711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000210587] [ENSMUST00000211344] [ENSMUST00000211369] [ENSMUST00000211626]
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 possibly damaging
Transcript: ENSMUST00000005711
AA Change: Q91L

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916
AA Change: Q91L

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 probably benign
Transcript: ENSMUST00000125964
SMART Domains Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 20 161 3.67e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165394
SMART Domains Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 2 76 4.51e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000210587
AA Change: Q91L

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000211344
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Predicted Effect probably benign
Transcript: ENSMUST00000211626
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,393,400 (GRCm39) S351P possibly damaging Het
4930558K02Rik A G 1: 161,777,174 (GRCm39) S128P probably benign Het
Adam17 C T 12: 21,401,588 (GRCm39) V136I probably benign Het
Adam19 A G 11: 46,018,176 (GRCm39) T413A probably benign Het
Adam28 T C 14: 68,866,531 (GRCm39) K443E probably damaging Het
Adgrv1 T A 13: 81,567,541 (GRCm39) T5211S probably benign Het
Adnp2 A T 18: 80,172,200 (GRCm39) N736K possibly damaging Het
Agtpbp1 C T 13: 59,609,884 (GRCm39) W1082* probably null Het
Ap3b2 T G 7: 81,113,546 (GRCm39) M888L unknown Het
Arhgap35 C A 7: 16,295,549 (GRCm39) R1172L possibly damaging Het
Arrdc3 T A 13: 81,041,506 (GRCm39) D402E probably benign Het
Ccdc14 T C 16: 34,511,118 (GRCm39) F31L possibly damaging Het
Cd5l T G 3: 87,274,932 (GRCm39) L157R probably benign Het
Cdc14a G T 3: 116,122,213 (GRCm39) D251E possibly damaging Het
Cfap210 A T 2: 69,606,510 (GRCm39) I302K probably benign Het
Col12a1 A G 9: 79,548,729 (GRCm39) probably null Het
Ctdsp1 G T 1: 74,434,126 (GRCm39) R201L possibly damaging Het
Dhx15 C T 5: 52,342,198 (GRCm39) R40H probably damaging Het
Dnph1 A G 17: 46,809,860 (GRCm39) Y134C probably damaging Het
Foxo1 T A 3: 52,253,301 (GRCm39) V488D probably benign Het
Gcn1 C A 5: 115,742,944 (GRCm39) N1538K probably benign Het
Gldc T A 19: 30,111,686 (GRCm39) E500V probably benign Het
Hhip G A 8: 80,701,743 (GRCm39) T597I probably benign Het
Hmgn1 A G 16: 95,928,509 (GRCm39) probably null Het
Ifi205 A T 1: 173,844,988 (GRCm39) S265T possibly damaging Het
Igkv1-131 T C 6: 67,743,753 (GRCm39) M2V probably benign Het
Irgm2 T G 11: 58,111,280 (GRCm39) S324A probably damaging Het
Jarid2 C G 13: 45,064,727 (GRCm39) D937E possibly damaging Het
Jrkl A T 9: 13,245,404 (GRCm39) W86R probably damaging Het
Kbtbd3 A G 9: 4,330,584 (GRCm39) I319M probably benign Het
Klhl7 T C 5: 24,364,465 (GRCm39) Y500H probably damaging Het
Lats1 C T 10: 7,578,052 (GRCm39) A392V probably benign Het
Llgl1 G T 11: 60,600,402 (GRCm39) A584S probably benign Het
Macf1 G T 4: 123,403,686 (GRCm39) S560Y probably damaging Het
Or4c11 C T 2: 88,695,795 (GRCm39) P282L possibly damaging Het
Or8c10 T A 9: 38,279,378 (GRCm39) C169S probably damaging Het
Pde10a G A 17: 9,181,791 (GRCm39) C498Y possibly damaging Het
Pde4dip A G 3: 97,659,123 (GRCm39) probably null Het
Pdhx G A 2: 102,852,561 (GRCm39) P434L probably damaging Het
Pdlim3 T C 8: 46,338,711 (GRCm39) probably null Het
Pik3c3 T C 18: 30,427,483 (GRCm39) probably null Het
Prkag1 T C 15: 98,711,900 (GRCm39) K242R possibly damaging Het
Rap1b A G 10: 117,654,391 (GRCm39) S150P possibly damaging Het
Scn4a A G 11: 106,217,076 (GRCm39) S1102P probably damaging Het
Scrib A G 15: 75,921,108 (GRCm39) Y1332H probably damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc13a1 C T 6: 24,097,578 (GRCm39) probably null Het
Slc17a8 A G 10: 89,425,444 (GRCm39) V380A probably damaging Het
Slc5a4b G T 10: 75,917,165 (GRCm39) Y290* probably null Het
Slco4c1 A G 1: 96,764,633 (GRCm39) F480L probably damaging Het
Srcap T C 7: 127,121,162 (GRCm39) V146A unknown Het
Ssc5d T A 7: 4,936,432 (GRCm39) D559E probably damaging Het
Sstr5 A C 17: 25,710,584 (GRCm39) I215S probably damaging Het
Stambpl1 G A 19: 34,212,634 (GRCm39) C268Y probably benign Het
Stard3nl C A 13: 19,560,809 (GRCm39) probably benign Het
Sycp3 T C 10: 88,299,734 (GRCm39) probably null Het
Syne2 A T 12: 76,009,349 (GRCm39) M2417L possibly damaging Het
Tenm4 T G 7: 96,473,080 (GRCm39) Y959D probably damaging Het
Tmem132d T A 5: 127,869,570 (GRCm39) D588V possibly damaging Het
Tnfrsf26 T C 7: 143,172,130 (GRCm39) E60G possibly damaging Het
Topbp1 A G 9: 103,205,767 (GRCm39) R802G probably benign Het
Trmu T C 15: 85,781,096 (GRCm39) V360A probably benign Het
Tshz2 G A 2: 169,726,562 (GRCm39) C386Y probably damaging Het
Ttn A T 2: 76,700,771 (GRCm39) D61E Het
Upf1 T C 8: 70,792,674 (GRCm39) T345A probably benign Het
Vmn2r23 T A 6: 123,718,782 (GRCm39) C712S probably damaging Het
Vmn2r44 C T 7: 8,371,091 (GRCm39) V652I probably benign Het
Wfdc1 T C 8: 120,393,302 (GRCm39) V8A probably benign Het
Xrn1 A G 9: 95,880,274 (GRCm39) Y738C probably benign Het
Zfp618 T G 4: 63,051,511 (GRCm39) V764G probably damaging Het
Znfx1 A T 2: 166,898,261 (GRCm39) M221K 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
R6435:Chmp2a UTSW 7 12,766,701 (GRCm39) nonsense probably null
R8891:Chmp2a UTSW 7 12,767,840 (GRCm39) missense probably benign 0.01
R9653:Chmp2a UTSW 7 12,766,456 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCGTTCAAACTCCATCATGATC -3'
(R):5'- GGCTGAGGAGTGATATCCCTAAG -3'

Sequencing Primer
(F):5'- CAAACTCCATCATGATCTTCTGG -3'
(R):5'- CCTAAGAGAGGGGTGAGATTTTG -3'
Posted On 2022-02-07