Mutagenetix > Incidental Mutation

Incidental Mutation 'R5862:Ap3b1'

453979

Institutional Source

Beutler Lab

Gene Symbol

Ap3b1

Ensembl Gene

ENSMUSG00000021686

Gene Name

adaptor-related protein complex 3, beta 1 subunit

Synonyms

AP-3, Hps2, beta3A, rim2, recombination induced mutation 2

MMRRC Submission

043231-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R5862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94495468-94702825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94684278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1014 (M1014K)

Ref Sequence

ENSEMBL: ENSMUSP00000022196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022196]

AlphaFold

Q9Z1T1

Predicted Effect

unknown
Transcript: ENSMUST00000022196
AA Change: M1014K

SMART Domains

Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: M1014K

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:Adaptin_N	39	586	1.2e-170	PFAM
Pfam:SEEEED	672	812	1.3e-27	PFAM
AP3B1_C	822	969	1.58e-78	SMART
Blast:B2	993	1103	2e-27	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222383

Predicted Effect

unknown
Transcript: ENSMUST00000231916
AA Change: M392K

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. [provided by MGI curators]

Allele List at MGI

All alleles(53) : Targeted(4) Gene trapped(34) Spontaneous(14) Chemically induced(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,615,895 (GRCm39)	Y326H	probably damaging	Het
Alpk2	T	A	18: 65,440,360 (GRCm39)	K811N	probably damaging	Het
Bphl	G	A	13: 34,247,967 (GRCm39)	V247I	possibly damaging	Het
C6	A	T	15: 4,764,745 (GRCm39)	D147V	possibly damaging	Het
Clec18a	G	A	8: 111,808,190 (GRCm39)	H71Y	possibly damaging	Het
Cse1l	A	G	2: 166,757,127 (GRCm39)	T10A	probably benign	Het
Cyp2b9	G	T	7: 25,887,232 (GRCm39)	G214C	probably benign	Het
Dctn6	A	T	8: 34,575,571 (GRCm39)		probably null	Het
Dnaja4	G	T	9: 54,606,625 (GRCm39)		probably benign	Het
Dpp8	A	T	9: 64,953,004 (GRCm39)	S227C	probably benign	Het
Ecel1	T	C	1: 87,077,318 (GRCm39)	N630S	probably benign	Het
Etnppl	T	C	3: 130,425,473 (GRCm39)	V426A	possibly damaging	Het
Golgb1	A	T	16: 36,746,453 (GRCm39)		silent	Het
Hapln3	A	T	7: 78,771,639 (GRCm39)	H83Q	possibly damaging	Het
Hmgxb4	A	G	8: 75,727,683 (GRCm39)	K222R	probably damaging	Het
Hsf5	C	A	11: 87,513,817 (GRCm39)	T294K	probably damaging	Het
Ighv12-2	A	G	12: 114,091,557 (GRCm39)		noncoding transcript	Het
Lrch3	A	T	16: 32,816,179 (GRCm39)	H587L	probably damaging	Het
Macroh2a1	T	A	13: 56,222,084 (GRCm39)	I359L	probably damaging	Het
Mboat1	C	T	13: 30,419,680 (GRCm39)	T339M	probably damaging	Het
Mief1	G	A	15: 80,132,586 (GRCm39)	R156Q	probably benign	Het
Ms4a6b	T	A	19: 11,499,167 (GRCm39)	F94I	probably benign	Het
Neb	T	A	2: 52,069,554 (GRCm39)	R307*	probably null	Het
Neu4	A	G	1: 93,950,652 (GRCm39)	I147V	probably benign	Het
Or5m9b	T	C	2: 85,905,990 (GRCm39)	I302T	probably benign	Het
Pcyox1	A	G	6: 86,368,656 (GRCm39)		probably null	Het
Pik3ap1	T	A	19: 41,320,784 (GRCm39)	D145V	probably damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Plekhg1	C	T	10: 3,887,914 (GRCm39)	T281M	probably damaging	Het
Ptprq	T	C	10: 107,401,739 (GRCm39)	I1918V	probably benign	Het
Rasgef1a	A	C	6: 118,057,405 (GRCm39)	R35S	probably benign	Het
Rnf167	A	G	11: 70,541,918 (GRCm39)	T308A	probably damaging	Het
Sfmbt2	C	T	2: 10,406,863 (GRCm39)	T54I	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shkbp1	G	T	7: 27,042,829 (GRCm39)	S536*	probably null	Het
Taf2	C	A	15: 54,911,719 (GRCm39)	V566L	possibly damaging	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Tyms	A	T	5: 30,268,408 (GRCm39)	D97E	probably damaging	Het
Usp20	T	A	2: 30,896,461 (GRCm39)	L188*	probably null	Het
Zbtb10	T	A	3: 9,330,276 (GRCm39)	S545T	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Ap3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Ap3b1	APN	13	94,527,371 (GRCm39)	missense	probably damaging	1.00
IGL00766:Ap3b1	APN	13	94,679,392 (GRCm39)	splice site	probably benign
IGL01784:Ap3b1	APN	13	94,630,247 (GRCm39)	missense	probably damaging	1.00
IGL01979:Ap3b1	APN	13	94,584,971 (GRCm39)	nonsense	probably null
IGL02040:Ap3b1	APN	13	94,545,353 (GRCm39)	critical splice donor site	probably null
IGL02119:Ap3b1	APN	13	94,598,911 (GRCm39)	missense	probably benign	0.01
IGL02247:Ap3b1	APN	13	94,531,303 (GRCm39)	critical splice donor site	probably null
IGL02303:Ap3b1	APN	13	94,664,827 (GRCm39)	missense	unknown
IGL02493:Ap3b1	APN	13	94,540,528 (GRCm39)	missense	probably damaging	0.98
IGL02551:Ap3b1	APN	13	94,554,599 (GRCm39)	missense	probably damaging	0.99
IGL02651:Ap3b1	APN	13	94,613,529 (GRCm39)	missense	probably damaging	1.00
IGL02832:Ap3b1	APN	13	94,664,835 (GRCm39)	missense	unknown
IGL03033:Ap3b1	APN	13	94,585,003 (GRCm39)	missense	probably benign	0.15
IGL03101:Ap3b1	APN	13	94,591,906 (GRCm39)	missense	probably benign	0.00
bella	UTSW	13	94,664,765 (GRCm39)	missense	unknown
bullet_gray	UTSW	13	94,587,594 (GRCm39)	critical splice donor site	probably benign
cuttlefish	UTSW	13	94,584,959 (GRCm39)	critical splice acceptor site	probably null
Gastropod	UTSW	13	94,679,348 (GRCm39)	missense	unknown
razor	UTSW	13	94,630,239 (GRCm39)	missense	unknown
Slime	UTSW	13	94,540,586 (GRCm39)	missense	possibly damaging	0.51
slug	UTSW	13	94,545,353 (GRCm39)	critical splice donor site	probably null
snail	UTSW	13	94,616,393 (GRCm39)	splice site	probably benign
stalk	UTSW	13	94,609,439 (GRCm39)	critical splice donor site	probably null
R0034:Ap3b1	UTSW	13	94,616,393 (GRCm39)	splice site	probably benign
R0265:Ap3b1	UTSW	13	94,630,189 (GRCm39)	missense	unknown
R0270:Ap3b1	UTSW	13	94,540,626 (GRCm39)	splice site	probably benign
R0346:Ap3b1	UTSW	13	94,582,479 (GRCm39)	nonsense	probably null
R0422:Ap3b1	UTSW	13	94,598,968 (GRCm39)	missense	probably damaging	0.99
R0496:Ap3b1	UTSW	13	94,609,446 (GRCm39)	splice site	probably benign
R0508:Ap3b1	UTSW	13	94,702,222 (GRCm39)	missense	unknown
R0764:Ap3b1	UTSW	13	94,616,387 (GRCm39)	splice site	probably benign
R1506:Ap3b1	UTSW	13	94,582,651 (GRCm39)	splice site	probably benign
R1593:Ap3b1	UTSW	13	94,638,435 (GRCm39)	missense	unknown
R1660:Ap3b1	UTSW	13	94,545,320 (GRCm39)	missense	probably damaging	0.98
R1735:Ap3b1	UTSW	13	94,630,225 (GRCm39)	missense	unknown
R1791:Ap3b1	UTSW	13	94,545,305 (GRCm39)	missense	possibly damaging	0.63
R1818:Ap3b1	UTSW	13	94,608,212 (GRCm39)	missense	possibly damaging	0.48
R2280:Ap3b1	UTSW	13	94,664,724 (GRCm39)	missense	unknown
R3031:Ap3b1	UTSW	13	94,702,151 (GRCm39)	missense	unknown
R3037:Ap3b1	UTSW	13	94,582,486 (GRCm39)	critical splice donor site	probably null
R4401:Ap3b1	UTSW	13	94,554,607 (GRCm39)	missense	probably damaging	1.00
R4402:Ap3b1	UTSW	13	94,554,607 (GRCm39)	missense	probably damaging	1.00
R4403:Ap3b1	UTSW	13	94,554,607 (GRCm39)	missense	probably damaging	1.00
R4532:Ap3b1	UTSW	13	94,702,243 (GRCm39)	missense	unknown
R4624:Ap3b1	UTSW	13	94,619,734 (GRCm39)	missense	unknown
R4626:Ap3b1	UTSW	13	94,540,586 (GRCm39)	missense	possibly damaging	0.51
R4754:Ap3b1	UTSW	13	94,540,468 (GRCm39)	missense	probably damaging	1.00
R4788:Ap3b1	UTSW	13	94,702,149 (GRCm39)	missense	unknown
R4847:Ap3b1	UTSW	13	94,608,287 (GRCm39)	missense	probably benign	0.15
R4886:Ap3b1	UTSW	13	94,609,313 (GRCm39)	missense	possibly damaging	0.50
R5096:Ap3b1	UTSW	13	94,616,357 (GRCm39)	missense	unknown
R5628:Ap3b1	UTSW	13	94,613,556 (GRCm39)	missense	unknown
R5671:Ap3b1	UTSW	13	94,664,765 (GRCm39)	missense	unknown
R5677:Ap3b1	UTSW	13	94,664,704 (GRCm39)	missense	unknown
R5941:Ap3b1	UTSW	13	94,619,773 (GRCm39)	missense	probably damaging	0.96
R5941:Ap3b1	UTSW	13	94,576,781 (GRCm39)	missense	probably benign	0.02
R6043:Ap3b1	UTSW	13	94,613,501 (GRCm39)	missense	probably benign	0.09
R6212:Ap3b1	UTSW	13	94,630,207 (GRCm39)	missense	unknown
R6212:Ap3b1	UTSW	13	94,587,581 (GRCm39)	missense	probably damaging	1.00
R6301:Ap3b1	UTSW	13	94,664,803 (GRCm39)	missense	unknown
R6765:Ap3b1	UTSW	13	94,599,017 (GRCm39)	missense	probably benign	0.02
R6812:Ap3b1	UTSW	13	94,616,369 (GRCm39)	missense	unknown
R6888:Ap3b1	UTSW	13	94,545,299 (GRCm39)	missense	probably benign	0.42
R6901:Ap3b1	UTSW	13	94,554,650 (GRCm39)	missense	probably benign	0.00
R7157:Ap3b1	UTSW	13	94,668,542 (GRCm39)	nonsense	probably null
R7422:Ap3b1	UTSW	13	94,664,673 (GRCm39)	missense	unknown
R7642:Ap3b1	UTSW	13	94,613,540 (GRCm39)	missense	probably benign	0.19
R7710:Ap3b1	UTSW	13	94,587,581 (GRCm39)	missense	probably damaging	1.00
R7757:Ap3b1	UTSW	13	94,664,666 (GRCm39)	splice site	probably null
R7867:Ap3b1	UTSW	13	94,619,771 (GRCm39)	missense	unknown
R8492:Ap3b1	UTSW	13	94,531,294 (GRCm39)	missense	possibly damaging	0.60
R8706:Ap3b1	UTSW	13	94,545,353 (GRCm39)	critical splice donor site	probably null
R8749:Ap3b1	UTSW	13	94,664,725 (GRCm39)	missense	unknown
R8876:Ap3b1	UTSW	13	94,540,586 (GRCm39)	missense	possibly damaging	0.51
R8889:Ap3b1	UTSW	13	94,679,348 (GRCm39)	missense	unknown
R8892:Ap3b1	UTSW	13	94,679,348 (GRCm39)	missense	unknown
R9065:Ap3b1	UTSW	13	94,608,223 (GRCm39)	missense	probably damaging	1.00
R9152:Ap3b1	UTSW	13	94,630,239 (GRCm39)	missense	unknown
R9152:Ap3b1	UTSW	13	94,609,439 (GRCm39)	critical splice donor site	probably null
R9166:Ap3b1	UTSW	13	94,608,236 (GRCm39)	missense	probably damaging	1.00
R9218:Ap3b1	UTSW	13	94,584,959 (GRCm39)	critical splice acceptor site	probably null
R9269:Ap3b1	UTSW	13	94,540,570 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCCTATGTATTATCCTACACAGCG -3'
(R):5'- GGGTTACTACTGCCAAAGTAAAG -3'

Sequencing Primer
(F):5'- CCTTCCATTGAGAAAACGT -3'
(R):5'- TTACTACTGCCAAAGTAAAGAATGAG -3'

Posted On

2017-02-10