Mutagenetix > Incidental Mutation

Incidental Mutation 'R3037:Ap3b1'

264862

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

040553-MU

Accession Numbers

Essential gene?

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

Stock #

R3037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94495468-94702825 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 94582486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022196 (fasta)

Gene Model

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

AlphaFold

Q9Z1T1

Predicted Effect

probably null
Transcript: ENSMUST00000022196

SMART Domains

Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bco1	A	G	8: 117,854,278 (GRCm39)	Y401C	probably benign	Het
Bod1l	A	T	5: 41,979,380 (GRCm39)	S645T	probably damaging	Het
Cat	A	G	2: 103,298,122 (GRCm39)	Y274H	probably benign	Het
Cdh19	C	A	1: 110,882,337 (GRCm39)	V52F	probably damaging	Het
Cntnap2	G	A	6: 45,992,200 (GRCm39)	V376I	possibly damaging	Het
Dll3	A	G	7: 27,998,542 (GRCm39)	L141P	probably damaging	Het
Ets2	C	A	16: 95,517,109 (GRCm39)	N280K	probably benign	Het
Fam186a	G	T	15: 99,841,675 (GRCm39)	P1523Q	probably damaging	Het
Fcgbp	A	G	7: 27,802,127 (GRCm39)	I1352V	possibly damaging	Het
Fcsk	A	T	8: 111,621,350 (GRCm39)		probably null	Het
Gng11	A	G	6: 4,008,051 (GRCm39)	E38G	probably benign	Het
Gsdmc2	A	T	15: 63,705,180 (GRCm39)	F178I	probably benign	Het
Il11ra1	T	A	4: 41,765,074 (GRCm39)	S133R	possibly damaging	Het
Kcnab2	T	A	4: 152,478,213 (GRCm39)	I349F	possibly damaging	Het
Kctd10	A	G	5: 114,513,061 (GRCm39)	V38A	probably damaging	Het
Lrig3	A	G	10: 125,845,901 (GRCm39)	R777G	probably damaging	Het
Naip2	A	C	13: 100,291,457 (GRCm39)	D1160E	probably benign	Het
Nanog	C	A	6: 122,690,227 (GRCm39)	Q186K	possibly damaging	Het
Nlrc3	T	C	16: 3,770,272 (GRCm39)	N249S	probably damaging	Het
Nup214	A	T	2: 31,866,632 (GRCm39)	T56S	probably benign	Het
Or8k41	A	T	2: 86,313,987 (GRCm39)	I33N	probably damaging	Het
Pcdhb1	T	G	18: 37,398,166 (GRCm39)	M39R	probably damaging	Het
Pced1a	A	C	2: 130,261,779 (GRCm39)	D291E	probably benign	Het
Pdia6	C	T	12: 17,329,646 (GRCm39)	R261W	probably damaging	Het
Pdlim4	C	A	11: 53,947,083 (GRCm39)	G72V	probably benign	Het
Plce1	G	A	19: 38,766,328 (GRCm39)	D2104N	probably damaging	Het
Ptprk	T	C	10: 28,456,474 (GRCm39)	L7P	probably damaging	Het
Rad21l	A	T	2: 151,502,700 (GRCm39)	F170Y	probably damaging	Het
Scaf1	T	C	7: 44,656,771 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,269,673 (GRCm39)		probably null	Het
Trpm5	G	A	7: 142,639,200 (GRCm39)	T239I	probably benign	Het
Tspan5	G	A	3: 138,604,116 (GRCm39)	G167D	probably damaging	Het
Ttyh3	C	A	5: 140,634,597 (GRCm39)		probably benign	Het
Usp15	C	A	10: 122,999,522 (GRCm39)	W220L	probably damaging	Het
Vmn2r77	A	T	7: 86,450,191 (GRCm39)	I146L	probably benign	Het
Ythdf3	T	C	3: 16,259,355 (GRCm39)	F501L	probably benign	Het
Zc3h4	A	G	7: 16,155,410 (GRCm39)	D241G	unknown	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
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
R5862:Ap3b1	UTSW	13	94,684,278 (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'- GGAAGAGGACACACATAGCTCTC -3'
(R):5'- ACCATGGAACCTGTATGAAGCATAC -3'

Sequencing Primer
(F):5'- GCTCTCATTTACTAAAGCCTTTGAG -3'
(R):5'- TGAAGCATACAGACCTTCAGTG -3'

Posted On

2015-02-05