Mutagenetix > Incidental Mutation

Incidental Mutation 'R1035:Ap3b2'

95537

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

039134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R1035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81110147-81143673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81113659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 850 (L850Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080739 (fasta)

Gene Model

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

AlphaFold

Q9JME5

Predicted Effect

unknown
Transcript: ENSMUST00000082090
AA Change: L850Q

SMART Domains

Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444
AA Change: L850Q

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: ENSMUST00000147624

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.4%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Asxl3	T	C	18: 22,658,106 (GRCm39)	S2039P	probably damaging	Het
Cadm2	A	T	16: 66,612,235 (GRCm39)	M109K	probably damaging	Het
Caskin1	A	G	17: 24,724,011 (GRCm39)	N933S	probably damaging	Het
Cbln4	T	C	2: 171,883,989 (GRCm39)	N77S	possibly damaging	Het
Chek1	A	G	9: 36,627,769 (GRCm39)	I256T	probably damaging	Het
Col5a3	A	T	9: 20,704,795 (GRCm39)		probably benign	Het
Cyp2b10	C	T	7: 25,616,473 (GRCm39)	S360L	probably benign	Het
Dctn1	T	C	6: 83,167,202 (GRCm39)	S222P	probably damaging	Het
Dnah7b	A	G	1: 46,163,608 (GRCm39)	I471V	probably benign	Het
Ear2	A	T	14: 44,340,344 (GRCm39)	M1L	possibly damaging	Het
Entpd6	T	A	2: 150,606,112 (GRCm39)		probably benign	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam98b	C	T	2: 117,101,120 (GRCm39)	R311W	possibly damaging	Het
Ggt7	A	T	2: 155,348,347 (GRCm39)	C102S	probably damaging	Het
Myo15a	T	C	11: 60,401,384 (GRCm39)		probably benign	Het
Nlrp9c	C	T	7: 26,070,702 (GRCm39)		probably benign	Het
Nrxn1	A	T	17: 90,471,302 (GRCm39)	N1234K	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Pcsk1	T	C	13: 75,280,238 (GRCm39)	S688P	probably benign	Het
Polr1a	T	C	6: 71,944,900 (GRCm39)	F1319L	probably benign	Het
Ppig	T	C	2: 69,579,803 (GRCm39)	Y446H	unknown	Het
Spmap2	G	A	10: 79,419,684 (GRCm39)	T182M	probably damaging	Het
Stk17b	T	C	1: 53,801,758 (GRCm39)	T88A	probably benign	Het
Tas2r143	A	T	6: 42,377,199 (GRCm39)	I10F	probably benign	Het
Tmprss12	G	A	15: 100,183,081 (GRCm39)	R141Q	probably benign	Het
Trpa1	A	G	1: 14,961,527 (GRCm39)		probably null	Het
Txndc16	A	G	14: 45,410,020 (GRCm39)	S187P	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,011 (GRCm39)	I671T	possibly damaging	Het
Zfp78	G	T	7: 6,381,660 (GRCm39)	V237F	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTTCCTTACAGCAAGGCCCC -3'
(R):5'- TGACACTCACAGACTCCTCTCTGG -3'

Sequencing Primer
(F):5'- TTTGATCCCAAGAGGGTATCAGC -3'
(R):5'- CTCTCTGGTGCCTTCGGTG -3'

Posted On

2014-01-05