Mutagenetix > Incidental Mutation

Incidental Mutation 'R4841:Ap3b2'

371828

Institutional Source

Beutler Lab

Gene Symbol

Ap3b2

Ensembl Gene

ENSMUSG00000062444

Gene Name

adaptor-related protein complex 3, beta 2 subunit

Synonyms

Naptb, beta3B

MMRRC Submission

042454-MU

Accession Numbers

Essential gene?

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

Stock #

R4841 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81110147-81143673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81127678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 166 (A166V)

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: A166V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: A166V

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

noncoding transcript
Transcript: ENSMUST00000119121

SMART Domains

Protein: ENSMUSP00000114032
Gene: ENSMUSG00000062444

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	34	122	5.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125634

Predicted Effect

probably damaging
Transcript: ENSMUST00000152355
AA Change: A166V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4933427I04Rik	T	A	4: 123,754,170 (GRCm39)	M28K	probably benign	Het
A2m	A	T	6: 121,623,803 (GRCm39)	I390F	probably benign	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamts6	A	G	13: 104,449,295 (GRCm39)	D39G	probably benign	Het
Adgrl3	T	C	5: 81,942,118 (GRCm39)	S1326P	possibly damaging	Het
Adgrv1	A	G	13: 81,651,120 (GRCm39)		probably null	Het
Bbox1	T	A	2: 110,134,084 (GRCm39)		probably null	Het
Bckdk	A	G	7: 127,504,633 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Capn5	T	C	7: 97,780,879 (GRCm39)		probably null	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Cnmd	A	G	14: 79,887,762 (GRCm39)	I153T	possibly damaging	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Cspg4b	G	A	13: 113,502,724 (GRCm39)	G143D	probably benign	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dmrt2	G	A	19: 25,655,031 (GRCm39)	G210D	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Dspp	A	T	5: 104,325,052 (GRCm39)	S472C	unknown	Het
Dspp	G	T	5: 104,325,053 (GRCm39)	S472I	unknown	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fancd2	T	C	6: 113,539,391 (GRCm39)	S239P	probably damaging	Het
Fbp2	C	A	13: 63,002,727 (GRCm39)	Q108H	probably benign	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gpat2	C	G	2: 127,275,887 (GRCm39)	T555S	probably benign	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kat8	A	G	7: 127,524,366 (GRCm39)	I415V	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lrguk	T	C	6: 34,069,802 (GRCm39)	V559A	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or4k51	C	G	2: 111,584,679 (GRCm39)	F28L	probably benign	Het
Or5ae2	G	T	7: 84,506,328 (GRCm39)	L250F	probably damaging	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Osbpl3	T	A	6: 50,286,356 (GRCm39)	N623I	probably damaging	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pex16	T	G	2: 92,209,544 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Rreb1	G	A	13: 38,100,502 (GRCm39)	C211Y	probably benign	Het
Rundc3b	A	G	5: 8,578,742 (GRCm39)	L222P	probably damaging	Het
Ryr3	T	C	2: 112,478,718 (GRCm39)	N4405S	probably damaging	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Slc4a10	T	C	2: 62,087,939 (GRCm39)	V414A	possibly damaging	Het
Slc9a3	G	T	13: 74,313,956 (GRCm39)	D755Y	probably damaging	Het
Snrpb2	C	A	2: 142,910,237 (GRCm39)	F98L	possibly damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tafa5	C	T	15: 87,509,637 (GRCm39)		probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Tshz2	T	A	2: 169,728,167 (GRCm39)	I452N	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zbtb44	T	G	9: 30,964,701 (GRCm39)	V37G	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	Het

Other mutations in Ap3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Ap3b2	APN	7	81,121,697 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- AACAAGAGATGTGAGCCCC -3'
(R):5'- AATGGTGATTCCCCAAGGC -3'

Sequencing Primer
(F):5'- AAGAGATGTGAGCCCCCATTCTG -3'
(R):5'- CAAGGCGTGAGATCTTCCCATTAG -3'

Posted On

2016-03-01