Mutagenetix > Incidental Mutation

Incidental Mutation 'R5830:Chmp2a'

449263

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

043219-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R5830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12765933-12768704 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12766039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 161 (D161G)

Ref Sequence

ENSEMBL: ENSMUSP00000147393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000210587] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000211344] [ENSMUST00000211626] [ENSMUST00000211369]

AlphaFold

Q9DB34

Predicted Effect

probably benign
Transcript: ENSMUST00000005705

SMART Domains

Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000005711
AA Change: D211G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916
AA Change: D211G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
UBCc	32	173	8.83e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123541

SMART Domains

Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
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: ENSMUST00000210587
AA Change: D211G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156389

SMART Domains

Protein: ENSMUSP00000117123
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
PDB:2NVU\|C	69	138	4e-38	PDB
SCOP:d2e2c__	83	136	2e-8	SMART
Blast:UBCc	92	138	4e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000125964

SMART Domains

Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	20	161	3.67e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165394

SMART Domains

Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

Domain	Start	End	E-Value	Type
UBCc	2	76	4.51e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211344
AA Change: D151G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211626
AA Change: D161G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000211369

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec3	A	T	15: 79,783,268 (GRCm39)	N115I	possibly damaging	Het
Arl14ep	T	C	2: 106,799,539 (GRCm39)	S101G	possibly damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
Ccdc40	C	A	11: 119,133,572 (GRCm39)	H571N	probably benign	Het
Cdc42bpb	G	A	12: 111,312,016 (GRCm39)	R99*	probably null	Het
Cdyl2	A	G	8: 117,321,823 (GRCm39)	Y235H	probably benign	Het
Ep400	A	T	5: 110,831,862 (GRCm39)	W2091R	unknown	Het
Epha8	G	A	4: 136,663,701 (GRCm39)	Q452*	probably null	Het
Fbn2	A	G	18: 58,247,541 (GRCm39)	F451S	probably benign	Het
Fndc1	C	A	17: 8,007,918 (GRCm39)	R72L	possibly damaging	Het
Gfpt2	A	G	11: 49,699,888 (GRCm39)	E81G	probably benign	Het
Gpr155	A	G	2: 73,200,433 (GRCm39)	V358A	possibly damaging	Het
Hnrnpk	A	T	13: 58,545,548 (GRCm39)	Y92*	probably null	Het
Il34	A	G	8: 111,475,323 (GRCm39)	V71A	probably damaging	Het
Inpp5e	A	G	2: 26,290,427 (GRCm39)	F416L	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Kdsr	A	G	1: 106,675,262 (GRCm39)	S125P	possibly damaging	Het
Ldb1	T	A	19: 46,022,557 (GRCm39)	M307L	probably benign	Het
Lrr1	T	A	12: 69,225,445 (GRCm39)	S374T	possibly damaging	Het
Mtmr2	A	G	9: 13,713,274 (GRCm39)	I412V	probably benign	Het
Ncor1	T	C	11: 62,235,589 (GRCm39)	I298V	possibly damaging	Het
Ndst1	A	G	18: 60,836,910 (GRCm39)	F384L	probably damaging	Het
Nlrc5	A	G	8: 95,199,542 (GRCm39)	E51G	probably damaging	Het
Obox6	G	A	7: 15,568,382 (GRCm39)	H165Y	possibly damaging	Het
Or5k17	T	A	16: 58,746,457 (GRCm39)	H159L	possibly damaging	Het
Pde8b	A	T	13: 95,178,398 (GRCm39)	F582Y	probably benign	Het
Pik3r4	C	A	9: 105,522,023 (GRCm39)	Y196*	probably null	Het
Pink1	A	T	4: 138,043,325 (GRCm39)	M1K	probably null	Het
Scn7a	A	T	2: 66,544,395 (GRCm39)	Y365*	probably null	Het
Sec16a	A	T	2: 26,330,853 (GRCm39)	D387E	probably benign	Het
Sel1l	A	T	12: 91,799,945 (GRCm39)	F127Y	probably damaging	Het
Syt7	T	A	19: 10,399,151 (GRCm39)	N82K	probably damaging	Het
Zfp358	G	T	8: 3,545,846 (GRCm39)	V143L	probably benign	Het
Zkscan2	T	C	7: 123,079,323 (GRCm39)	N878S	possibly damaging	Het

Other mutations in Chmp2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6435:Chmp2a	UTSW	7	12,766,701 (GRCm39)	nonsense	probably null
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'- AATCATCTTCACTCGAGCCTG -3'
(R):5'- CCTAGTGATGCTGTTGTGTCCC -3'

Sequencing Primer
(F):5'- CACTCGAGCCTGGAATTTGG -3'
(R):5'- GCTGTCAAGTGAGTGTTCCAAATCC -3'

Posted On

2016-12-20