Mutagenetix > Incidental Mutation

Incidental Mutation 'R7142:Chmp2b'

553500

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

045250-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R7142 (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 65343794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 88 (Q88*)

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: Q88*

SMART Domains

Protein: ENSMUSP00000004965
Gene: ENSMUSG00000004843
AA Change: Q88*

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

Predicted Effect

probably null
Transcript: ENSMUST00000231259
AA Change: Q84*

Coding Region Coverage

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

Validation Efficiency

98% (63/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,446 (GRCm39)	H290L	probably damaging	Het
Abca1	T	A	4: 53,082,050 (GRCm39)	S737C	probably damaging	Het
Abca14	G	C	7: 119,850,406 (GRCm39)	V753L	possibly damaging	Het
Adgrl1	C	T	8: 84,663,829 (GRCm39)	H1099Y	probably benign	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Aldh1l1	G	A	6: 90,540,398 (GRCm39)	D228N	probably damaging	Het
Cacna1e	G	T	1: 154,288,230 (GRCm39)	Q1883K	probably damaging	Het
Caskin2	A	G	11: 115,697,562 (GRCm39)	Y125H	probably benign	Het
Ccdc85a	A	T	11: 28,527,192 (GRCm39)	Y139N	probably damaging	Het
Cd93	C	T	2: 148,283,725 (GRCm39)	W540*	probably null	Het
Cdh3	G	A	8: 107,271,860 (GRCm39)		probably null	Het
Cpt1a	T	C	19: 3,425,100 (GRCm39)	M489T	probably benign	Het
Ctsk	G	A	3: 95,414,259 (GRCm39)	V274M	possibly damaging	Het
Cyp3a44	A	G	5: 145,714,771 (GRCm39)	V460A	probably benign	Het
Cypt4	C	T	9: 24,536,740 (GRCm39)	R77*	probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah7a	A	T	1: 53,452,927 (GRCm39)	Y3850*	probably null	Het
Drosha	A	T	15: 12,924,232 (GRCm39)	T1205S	possibly damaging	Het
Eif3j2	T	C	18: 43,610,465 (GRCm39)	E116G	probably damaging	Het
Ercc5	A	G	1: 44,213,374 (GRCm39)	E790G	probably damaging	Het
Fam163b	C	T	2: 27,003,567 (GRCm39)	R29Q	probably damaging	Het
Fbxo44	C	T	4: 148,243,269 (GRCm39)	G50E	unknown	Het
Foxo3	T	C	10: 42,150,591 (GRCm39)		probably null	Het
Gnal	C	T	18: 67,351,599 (GRCm39)	P386L	probably damaging	Het
Gpc5	T	A	14: 115,654,615 (GRCm39)	H478Q	probably benign	Het
Grhl2	A	T	15: 37,279,826 (GRCm39)	D178V	probably benign	Het
Gtf2i	C	A	5: 134,273,705 (GRCm39)	V755L	possibly damaging	Het
Hal	T	C	10: 93,336,513 (GRCm39)	V414A	possibly damaging	Het
Hmx2	T	C	7: 131,157,465 (GRCm39)	V193A	probably damaging	Het
Il17a	T	A	1: 20,802,327 (GRCm39)	M12K	probably benign	Het
Invs	T	A	4: 48,407,696 (GRCm39)	I557N	probably damaging	Het
Kng1	T	A	16: 22,898,170 (GRCm39)	H523Q	probably benign	Het
Lrp4	T	A	2: 91,325,339 (GRCm39)	I1388N	probably damaging	Het
Mboat4	A	G	8: 34,587,291 (GRCm39)	I63V	probably benign	Het
Mcoln2	G	A	3: 145,889,324 (GRCm39)		probably null	Het
Mgat5	A	T	1: 127,339,924 (GRCm39)	D435V	probably damaging	Het
Mri1	C	A	8: 84,983,753 (GRCm39)	R46L	probably damaging	Het
Mxra8	A	T	4: 155,927,519 (GRCm39)	Y409F	probably benign	Het
Nlrp1b	T	A	11: 71,062,901 (GRCm39)	R720*	probably null	Het
Ofcc1	T	C	13: 40,157,538 (GRCm39)	I887V	probably benign	Het
Or5l13	T	C	2: 87,780,056 (GRCm39)	I174V	probably benign	Het
Otud4	T	A	8: 80,399,391 (GRCm39)		probably null	Het
P3h1	T	A	4: 119,104,358 (GRCm39)	D626E	probably benign	Het
Pde2a	A	T	7: 101,153,857 (GRCm39)	D485V	probably damaging	Het
Phldb2	G	A	16: 45,577,539 (GRCm39)	R1129*	probably null	Het
Pkn1	T	C	8: 84,420,596 (GRCm39)	E10G	possibly damaging	Het
Psd2	A	G	18: 36,113,097 (GRCm39)	D264G	possibly damaging	Het
Psg29	A	G	7: 16,944,546 (GRCm39)	D352G	probably damaging	Het
Rgs14	T	C	13: 55,527,417 (GRCm39)	S218P	probably damaging	Het
Sec14l2	T	C	11: 4,048,379 (GRCm39)	T380A	probably benign	Het
Septin12	T	C	16: 4,806,226 (GRCm39)	T312A	unknown	Het
Skint5	A	T	4: 113,428,791 (GRCm39)	V1075E	unknown	Het
Ston2	A	G	12: 91,614,009 (GRCm39)	S800P	probably damaging	Het
Tmem106b	A	G	6: 13,081,564 (GRCm39)	N157S	probably damaging	Het
Tmem132b	G	A	5: 125,699,737 (GRCm39)	G133S	probably damaging	Het
Tmie	A	T	9: 110,699,749 (GRCm39)	M55K	possibly damaging	Het
Trpc6	A	T	9: 8,653,017 (GRCm39)	R608*	probably null	Het
Unc93a2	G	A	17: 7,644,021 (GRCm39)	T96I	probably damaging	Het
Usp35	A	G	7: 96,960,754 (GRCm39)	S891P	probably damaging	Het
Vmn1r178	A	G	7: 23,593,035 (GRCm39)	T28A	probably damaging	Het
Wnk1	T	A	6: 119,926,240 (GRCm39)	M1324L	probably benign	Het
Wrnip1	C	A	13: 32,986,616 (GRCm39)	S132R	possibly damaging	Het
Wsb1	T	C	11: 79,141,814 (GRCm39)	K68E	probably benign	Het
Zfp433	A	T	10: 81,556,040 (GRCm39)	K181*	probably null	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
R7339:Chmp2b	UTSW	16	65,342,232 (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'- GCTAGATGCACAATTACTTGGATTG -3'
(R):5'- AGATACTCTCTGATGACTGCCC -3'

Sequencing Primer
(F):5'- GCACAATTACTTGGATTGTCTAAAC -3'
(R):5'- GATGACTGCCCCTTGATTTTATTTC -3'

Posted On

2019-05-15