Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00772:Ap3b2'

13299

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap3b2

Ensembl Gene

ENSMUSG00000062444

Gene Name

adaptor-related protein complex 3, beta 2 subunit

Synonyms

Naptb, beta3B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL00772

Quality Score

Status

Chromosome

Chromosomal Location

81110147-81143673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81121697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 513 (E513G)

Ref Sequence

ENSEMBL: ENSMUSP00000080739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082090] [ENSMUST00000152355]

AlphaFold

Q9JME5

Predicted Effect

probably damaging
Transcript: ENSMUST00000082090
AA Change: E513G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: E513G

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	34	590	8.2e-182	PFAM
low complexity region	689	782	N/A	INTRINSIC
AP3B1_C	801	947	4.58e-75	SMART
Blast:B2	971	1080	2e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000152355

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
PHENOTYPE: Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	T	1: 59,209,055 (GRCm39)	C1501*	probably null	Het
Cdh19	T	C	1: 110,876,982 (GRCm39)	D119G	probably damaging	Het
Clasp2	A	G	9: 113,735,060 (GRCm39)		probably benign	Het
Cobl	A	G	11: 12,216,985 (GRCm39)	M419T	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Ctu2	T	C	8: 123,203,977 (GRCm39)		probably benign	Het
Dnah2	A	C	11: 69,342,083 (GRCm39)	Y2968D	probably damaging	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Folh1	A	G	7: 86,380,992 (GRCm39)	S494P	probably damaging	Het
Fras1	T	A	5: 96,783,971 (GRCm39)	I825N	probably benign	Het
Grk1	A	G	8: 13,455,349 (GRCm39)	T78A	probably benign	Het
Lipi	A	T	16: 75,347,254 (GRCm39)		probably benign	Het
Mak	A	T	13: 41,209,296 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,430,199 (GRCm39)	E636G	probably damaging	Het
Psmd1	T	C	1: 86,017,920 (GRCm39)		probably benign	Het
Scara5	G	A	14: 65,908,011 (GRCm39)		probably benign	Het
Skint8	A	G	4: 111,796,120 (GRCm39)	I265V	probably benign	Het
Slc48a1	A	G	15: 97,687,835 (GRCm39)	Y63C	probably damaging	Het
Slc4a2	G	T	5: 24,640,194 (GRCm39)	V598L	probably damaging	Het
Smo	A	T	6: 29,758,893 (GRCm39)	K565*	probably null	Het
Spink5	A	G	18: 44,139,487 (GRCm39)	I617V	probably benign	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tro	A	G	X: 149,438,321 (GRCm39)	V112A	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het

Other mutations in Ap3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Ap3b2	APN	7	81,126,687 (GRCm39)	splice site	probably benign
IGL01876:Ap3b2	APN	7	81,123,602 (GRCm39)	splice site	probably null
IGL02132:Ap3b2	APN	7	81,110,746 (GRCm39)	missense	unknown
IGL02227:Ap3b2	APN	7	81,123,152 (GRCm39)	missense	probably damaging	1.00
IGL02660:Ap3b2	APN	7	81,115,446 (GRCm39)	missense	probably benign	0.13
R0045:Ap3b2	UTSW	7	81,115,941 (GRCm39)	missense	possibly damaging	0.82
R0045:Ap3b2	UTSW	7	81,115,941 (GRCm39)	missense	possibly damaging	0.82
R0142:Ap3b2	UTSW	7	81,122,828 (GRCm39)	missense	probably damaging	0.96
R0317:Ap3b2	UTSW	7	81,113,429 (GRCm39)	splice site	probably null
R0568:Ap3b2	UTSW	7	81,114,377 (GRCm39)	critical splice donor site	probably null
R1035:Ap3b2	UTSW	7	81,113,659 (GRCm39)	missense	unknown
R1121:Ap3b2	UTSW	7	81,113,943 (GRCm39)	missense	unknown
R1160:Ap3b2	UTSW	7	81,115,917 (GRCm39)	critical splice donor site	probably null
R1489:Ap3b2	UTSW	7	81,113,438 (GRCm39)	nonsense	probably null
R1542:Ap3b2	UTSW	7	81,127,825 (GRCm39)	splice site	probably null
R1652:Ap3b2	UTSW	7	81,123,147 (GRCm39)	missense	probably damaging	1.00
R1741:Ap3b2	UTSW	7	81,117,347 (GRCm39)	missense	possibly damaging	0.95
R1872:Ap3b2	UTSW	7	81,113,898 (GRCm39)	missense	unknown
R2065:Ap3b2	UTSW	7	81,113,522 (GRCm39)	missense	unknown
R2353:Ap3b2	UTSW	7	81,123,598 (GRCm39)	unclassified	probably benign
R2354:Ap3b2	UTSW	7	81,123,598 (GRCm39)	unclassified	probably benign
R2398:Ap3b2	UTSW	7	81,126,943 (GRCm39)	missense	probably damaging	0.99
R3421:Ap3b2	UTSW	7	81,123,598 (GRCm39)	unclassified	probably benign
R3710:Ap3b2	UTSW	7	81,123,598 (GRCm39)	unclassified	probably benign
R3932:Ap3b2	UTSW	7	81,123,598 (GRCm39)	unclassified	probably benign
R3933:Ap3b2	UTSW	7	81,123,598 (GRCm39)	unclassified	probably benign
R4152:Ap3b2	UTSW	7	81,127,765 (GRCm39)	missense	probably damaging	1.00
R4209:Ap3b2	UTSW	7	81,126,884 (GRCm39)	missense	probably benign	0.02
R4732:Ap3b2	UTSW	7	81,121,680 (GRCm39)	missense	probably damaging	1.00
R4733:Ap3b2	UTSW	7	81,121,680 (GRCm39)	missense	probably damaging	1.00
R4841:Ap3b2	UTSW	7	81,127,678 (GRCm39)	missense	probably damaging	1.00
R5207:Ap3b2	UTSW	7	81,126,517 (GRCm39)	missense	possibly damaging	0.48
R5659:Ap3b2	UTSW	7	81,126,500 (GRCm39)	missense	probably damaging	0.98
R6109:Ap3b2	UTSW	7	81,143,340 (GRCm39)	missense	possibly damaging	0.55
R6223:Ap3b2	UTSW	7	81,123,210 (GRCm39)	nonsense	probably null
R6901:Ap3b2	UTSW	7	81,134,660 (GRCm39)	critical splice acceptor site	probably null
R6981:Ap3b2	UTSW	7	81,127,741 (GRCm39)	missense	probably damaging	1.00
R7061:Ap3b2	UTSW	7	81,110,757 (GRCm39)	missense	unknown
R7317:Ap3b2	UTSW	7	81,110,776 (GRCm39)	missense	unknown
R7501:Ap3b2	UTSW	7	81,123,194 (GRCm39)	missense	probably damaging	0.99
R7543:Ap3b2	UTSW	7	81,115,894 (GRCm39)	splice site	probably null
R7643:Ap3b2	UTSW	7	81,126,820 (GRCm39)	missense	probably benign	0.24
R7707:Ap3b2	UTSW	7	81,126,530 (GRCm39)	missense	possibly damaging	0.60
R8111:Ap3b2	UTSW	7	81,113,530 (GRCm39)	missense	unknown
R8273:Ap3b2	UTSW	7	81,112,990 (GRCm39)	missense	unknown
R8325:Ap3b2	UTSW	7	81,134,237 (GRCm39)	splice site	probably null
R8355:Ap3b2	UTSW	7	81,122,851 (GRCm39)	missense	probably damaging	1.00
R8697:Ap3b2	UTSW	7	81,122,783 (GRCm39)	missense	possibly damaging	0.91
R8716:Ap3b2	UTSW	7	81,126,901 (GRCm39)	missense	probably benign	0.03
R8923:Ap3b2	UTSW	7	81,126,931 (GRCm39)	missense	probably benign	0.08
R9002:Ap3b2	UTSW	7	81,117,192 (GRCm39)	missense	probably benign	0.02
R9163:Ap3b2	UTSW	7	81,113,546 (GRCm39)	missense	unknown
R9304:Ap3b2	UTSW	7	81,113,019 (GRCm39)	missense	unknown
R9321:Ap3b2	UTSW	7	81,114,252 (GRCm39)	critical splice acceptor site	probably null
R9413:Ap3b2	UTSW	7	81,127,757 (GRCm39)	missense	possibly damaging	0.45
R9459:Ap3b2	UTSW	7	81,123,651 (GRCm39)	missense	probably benign	0.16
R9746:Ap3b2	UTSW	7	81,126,092 (GRCm39)	missense	probably damaging	1.00
X0013:Ap3b2	UTSW	7	81,112,988 (GRCm39)	critical splice donor site	probably null
X0028:Ap3b2	UTSW	7	81,113,512 (GRCm39)	nonsense	probably null

Posted On

2012-12-06