Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Chmp2b'

569730

Institutional Source

Beutler Lab

Gene Symbol

Chmp2b

Ensembl Gene

ENSMUSG00000004843

Gene Name

charged multivesicular body protein 2B

Synonyms

1190006E07Rik, chromatin modifying protein 2B

MMRRC Submission

045429-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65336014-65359612 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 65342232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 119 (Q119*)

Ref Sequence

ENSEMBL: ENSMUSP00000004965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004965] [ENSMUST00000231259]

AlphaFold

Q8BJF9

Predicted Effect

probably null
Transcript: ENSMUST00000004965
AA Change: Q119*

SMART Domains

Protein: ENSMUSP00000004965
Gene: ENSMUSG00000004843
AA Change: Q119*

Domain	Start	End	E-Value	Type
Pfam:Snf7	16	186	1e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000231259
AA Change: Q115*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic gene trapped allele display reduced dendritic spine and excitatory synapse density in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,938 (GRCm39)	D1092G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Ahnak	A	T	19: 8,985,529 (GRCm39)	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,727,306 (GRCm39)	S90G	probably benign	Het
Arhgap5	A	G	12: 52,564,481 (GRCm39)	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883 (GRCm39)		probably null	Het
Atp1a1	T	C	3: 101,497,188 (GRCm39)	I373V	probably benign	Het
Barhl1	T	C	2: 28,799,899 (GRCm39)	E242G	probably damaging	Het
Bltp2	G	A	11: 78,163,210 (GRCm39)		probably null	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,036,202 (GRCm39)	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,182,815 (GRCm39)	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,175,925 (GRCm39)	Y191C	probably benign	Het
Cps1	T	A	1: 67,236,174 (GRCm39)	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,500,366 (GRCm39)	F920L	probably damaging	Het
Dnah12	A	T	14: 26,594,277 (GRCm39)	T3410S	probably benign	Het
Fbxo42	T	G	4: 140,927,455 (GRCm39)	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,191,615 (GRCm39)	G398R	not run	Het
Foxa3	A	T	7: 18,748,794 (GRCm39)	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340 (GRCm39)	K190E	probably benign	Het
Gbp10	T	C	5: 105,367,964 (GRCm39)	Y403C	possibly damaging	Het
Hsd3b5	A	G	3: 98,529,390 (GRCm39)	I80T	probably damaging	Het
Kri1	T	G	9: 21,197,883 (GRCm39)	Q89P		Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Metap1	T	C	3: 138,171,898 (GRCm39)		probably null	Het
Mkrn3	C	T	7: 62,069,530 (GRCm39)	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh6	T	C	14: 55,199,025 (GRCm39)		probably null	Het
Naip6	G	T	13: 100,452,527 (GRCm39)	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,378,454 (GRCm39)	E160G	probably damaging	Het
Nek6	G	A	2: 38,450,977 (GRCm39)	A127T	probably damaging	Het
Nell1	T	C	7: 49,929,297 (GRCm39)	V264A	probably benign	Het
Nlrp2	T	A	7: 5,330,627 (GRCm39)	I590F	possibly damaging	Het
Or13j1	C	T	4: 43,706,080 (GRCm39)	A163T	probably benign	Het
Or2y17	G	A	11: 49,231,875 (GRCm39)	R172Q	not run	Het
Or4f57	A	T	2: 111,790,956 (GRCm39)	M154K	probably benign	Het
Or4f6	A	G	2: 111,838,820 (GRCm39)	L237P	probably damaging	Het
Or52n4b	A	C	7: 108,144,107 (GRCm39)	D125A	probably damaging	Het
Otop3	T	A	11: 115,237,204 (GRCm39)	L556Q	probably damaging	Het
Padi1	T	C	4: 140,556,545 (GRCm39)	D190G	probably null	Het
Pald1	T	C	10: 61,159,110 (GRCm39)	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,975,860 (GRCm39)	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,109,459 (GRCm39)	M197V	probably benign	Het
Prom1	C	A	5: 44,258,995 (GRCm39)		probably benign	Het
Ptdss1	A	G	13: 67,111,426 (GRCm39)	H164R	possibly damaging	Het
Rrh	A	T	3: 129,604,262 (GRCm39)	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,144,591 (GRCm39)	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,156,914 (GRCm39)	V353I	probably benign	Het
Spata31e3	A	T	13: 50,401,204 (GRCm39)	I374N	possibly damaging	Het
Spdef	T	A	17: 27,939,219 (GRCm39)	E42D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmx1	A	G	12: 70,505,624 (GRCm39)	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,601,435 (GRCm39)	Y68F	probably benign	Het
Trp53	T	C	11: 69,480,015 (GRCm39)	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,066,950 (GRCm39)	D592G	probably benign	Het
Ttll5	T	C	12: 85,904,238 (GRCm39)		probably null	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r43	A	T	7: 8,258,306 (GRCm39)	Y302*	probably null	Het
Vps13d	C	T	4: 144,847,938 (GRCm39)	V2478I		Het
Vps35l	A	T	7: 118,409,194 (GRCm39)	I612F	probably damaging	Het
Wsb1	A	G	11: 79,131,184 (GRCm39)	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,239,205 (GRCm39)	D539G	probably damaging	Het
Zfp318	T	C	17: 46,722,173 (GRCm39)	V1392A	probably damaging	Het

Other mutations in Chmp2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Chmp2b	APN	16	65,359,363 (GRCm39)	missense	probably benign	0.01
IGL01807:Chmp2b	APN	16	65,337,091 (GRCm39)	missense	probably benign
R0256:Chmp2b	UTSW	16	65,337,078 (GRCm39)	missense	probably benign	0.18
R1688:Chmp2b	UTSW	16	65,347,922 (GRCm39)	missense	probably benign	0.00
R1923:Chmp2b	UTSW	16	65,342,213 (GRCm39)	missense	possibly damaging	0.56
R2155:Chmp2b	UTSW	16	65,343,877 (GRCm39)	missense	probably benign	0.09
R4845:Chmp2b	UTSW	16	65,347,862 (GRCm39)	missense	probably damaging	0.99
R5559:Chmp2b	UTSW	16	65,337,316 (GRCm39)	missense	probably damaging	1.00
R6333:Chmp2b	UTSW	16	65,337,136 (GRCm39)	missense	possibly damaging	0.75
R6473:Chmp2b	UTSW	16	65,343,758 (GRCm39)	missense	probably damaging	1.00
R7142:Chmp2b	UTSW	16	65,343,794 (GRCm39)	nonsense	probably null
R7761:Chmp2b	UTSW	16	65,343,745 (GRCm39)	missense	possibly damaging	0.48
R8034:Chmp2b	UTSW	16	65,343,769 (GRCm39)	missense	probably benign	0.33
R8780:Chmp2b	UTSW	16	65,359,422 (GRCm39)	unclassified	probably benign
R9537:Chmp2b	UTSW	16	65,347,932 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGTGTCACTTCTGTCTTCACGG -3'
(R):5'- TGCCAATAGAGCTGTACTGG -3'

Sequencing Primer
(F):5'- CACGGTATGTGTGCCTGTG -3'
(R):5'- ATGAGGCTGTCTTGCTAAACAG -3'

Posted On

2019-09-13