Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02247:Ap3b1'

286255

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02247

Quality Score

Status

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 94531303 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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,974,905 (GRCm39)	R177G	probably damaging	Het
Ascc3	A	C	10: 50,526,686 (GRCm39)	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,191,125 (GRCm39)	T234A	probably benign	Het
Col13a1	T	C	10: 61,797,124 (GRCm39)	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,323,513 (GRCm39)	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dgkz	T	C	2: 91,767,805 (GRCm39)	S824G	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Efhb	C	T	17: 53,708,652 (GRCm39)	V673I	probably benign	Het
Egr1	T	C	18: 34,995,916 (GRCm39)	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623 (GRCm39)		probably benign	Het
Gm4795	T	C	10: 44,883,211 (GRCm39)		noncoding transcript	Het
Gm6563	G	A	19: 23,653,392 (GRCm39)	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,702,590 (GRCm39)	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,660,258 (GRCm39)	H140Q	probably benign	Het
Itpk1	G	T	12: 102,589,668 (GRCm39)	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,317,153 (GRCm39)	W803R	probably damaging	Het
Lgr4	A	T	2: 109,832,846 (GRCm39)	D312V	probably benign	Het
Lgr4	C	T	2: 109,838,420 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,561,158 (GRCm39)	A282E	probably benign	Het
Mtif2	T	C	11: 29,490,642 (GRCm39)	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,093,269 (GRCm39)	I533M	probably damaging	Het
Nynrin	C	T	14: 56,109,167 (GRCm39)	Q1425*	probably null	Het
Or12e13	A	G	2: 87,663,873 (GRCm39)	I163M	probably damaging	Het
Or1e1f	A	T	11: 73,855,688 (GRCm39)	M85L	probably benign	Het
Or4n4b	T	A	14: 50,536,571 (GRCm39)	N65I	probably damaging	Het
Or4p22	C	T	2: 88,317,771 (GRCm39)	H232Y	probably benign	Het
Or56a3	T	A	7: 104,735,530 (GRCm39)	Y202*	probably null	Het
Or5b3	T	A	19: 13,388,831 (GRCm39)	S299R	probably benign	Het
Or7e175	G	A	9: 20,048,516 (GRCm39)	V35I	probably benign	Het
Plcb4	C	T	2: 135,836,245 (GRCm39)	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,763,721 (GRCm39)	T771K	probably benign	Het
Prss22	T	C	17: 24,215,363 (GRCm39)	T138A	probably benign	Het
Ros1	A	T	10: 52,005,677 (GRCm39)	S907T	probably damaging	Het
Rtel1	T	A	2: 180,993,134 (GRCm39)	Y521*	probably null	Het
Sacs	T	C	14: 61,429,984 (GRCm39)	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,647,372 (GRCm39)		probably benign	Het
Sumf2	T	C	5: 129,888,986 (GRCm39)	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,396,827 (GRCm39)	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,143,372 (GRCm39)	F668L	possibly damaging	Het
Timd4	T	C	11: 46,706,558 (GRCm39)	F120S	probably damaging	Het
Tnnt3	T	C	7: 142,062,062 (GRCm39)		probably benign	Het
Trp53bp1	G	A	2: 121,067,070 (GRCm39)	S552F	probably damaging	Het
Txlnb	G	A	10: 17,706,090 (GRCm39)	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,717,276 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,324,910 (GRCm39)	E461G	probably benign	Het
Vps45	G	A	3: 95,950,236 (GRCm39)	T231I	probably damaging	Het
Zfp648	T	A	1: 154,079,923 (GRCm39)	S27R	probably benign	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
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
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

Posted On

2015-04-16