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

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

Accession Numbers

Ap3b1: Ncbi RefSeq: NM_009680; MGI: 1333879;

Essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

94358960-94566317 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 94394795 bp (GRCm38)

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: 27,084,893	R177G	probably damaging	Het
Ascc3	A	C	10: 50,650,590	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,192,863	T234A	probably benign	Het
Col13a1	T	C	10: 61,961,345	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,503,150	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dgkz	T	C	2: 91,937,460	S824G	probably benign	Het
Dsg1c	T	A	18: 20,264,316	I27N	probably damaging	Het
Efhb	C	T	17: 53,401,624	V673I	probably benign	Het
Egr1	T	C	18: 34,862,863	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623		probably benign	Het
Gm4795	T	C	10: 45,007,115		noncoding transcript	Het
Gm6563	G	A	19: 23,676,028	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,725,606	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,839,896	H140Q	probably benign	Het
Itpk1	G	T	12: 102,623,409	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,098,179	W803R	probably damaging	Het
Lgr4	C	T	2: 110,008,075		probably benign	Het
Lgr4	A	T	2: 110,002,501	D312V	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,670,332	A282E	probably benign	Het
Mtif2	T	C	11: 29,540,642	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,371,312	I533M	probably damaging	Het
Nynrin	C	T	14: 55,871,710	Q1425*	probably null	Het
Olfr1148	A	G	2: 87,833,529	I163M	probably damaging	Het
Olfr1184	C	T	2: 88,487,427	H232Y	probably benign	Het
Olfr1469	T	A	19: 13,411,467	S299R	probably benign	Het
Olfr397	A	T	11: 73,964,862	M85L	probably benign	Het
Olfr679	T	A	7: 105,086,323	Y202*	probably null	Het
Olfr733	T	A	14: 50,299,114	N65I	probably damaging	Het
Olfr869	G	A	9: 20,137,220	V35I	probably benign	Het
Plcb4	C	T	2: 135,994,325	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,835,983	T771K	probably benign	Het
Prss22	T	C	17: 23,996,389	T138A	probably benign	Het
Ros1	A	T	10: 52,129,581	S907T	probably damaging	Het
Rtel1	T	A	2: 181,351,341	Y521*	probably null	Het
Sacs	T	C	14: 61,192,535	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,817,028		probably benign	Het
Sumf2	T	C	5: 129,860,145	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,669,516	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,206,554	F668L	possibly damaging	Het
Timd4	T	C	11: 46,815,731	F120S	probably damaging	Het
Tnnt3	T	C	7: 142,508,325		probably benign	Het
Trp53bp1	G	A	2: 121,236,589	S552F	probably damaging	Het
Txlnb	G	A	10: 17,830,342	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,841,528		probably benign	Het
Uroc1	A	G	6: 90,347,928	E461G	probably benign	Het
Vps45	G	A	3: 96,042,924	T231I	probably damaging	Het
Zfp648	T	A	1: 154,204,177	S27R	probably benign	Het

Other mutations in Ap3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Ap3b1	APN	13	94390863	missense	probably damaging	1.00
IGL00766:Ap3b1	APN	13	94542884	splice site	probably benign
IGL01784:Ap3b1	APN	13	94493739	missense	probably damaging	1.00
IGL01979:Ap3b1	APN	13	94448463	nonsense	probably null
IGL02040:Ap3b1	APN	13	94408845	critical splice donor site	probably null
IGL02119:Ap3b1	APN	13	94462403	missense	probably benign	0.01
IGL02303:Ap3b1	APN	13	94528319	missense	unknown
IGL02493:Ap3b1	APN	13	94404020	missense	probably damaging	0.98
IGL02551:Ap3b1	APN	13	94418091	missense	probably damaging	0.99
IGL02651:Ap3b1	APN	13	94477021	missense	probably damaging	1.00
IGL02832:Ap3b1	APN	13	94528327	missense	unknown
IGL03033:Ap3b1	APN	13	94448495	missense	probably benign	0.15
IGL03101:Ap3b1	APN	13	94455398	missense	probably benign	0.00
bella	UTSW	13	94528257	missense	unknown
bullet_gray	UTSW	13	94451087	critical splice donor site	probably benign
cuttlefish	UTSW	13	94448451	critical splice acceptor site	probably null
Gastropod	UTSW	13	94542840	missense	unknown
razor	UTSW	13	94493731	missense	unknown
Slime	UTSW	13	94404078	missense	possibly damaging	0.51
slug	UTSW	13	94408845	critical splice donor site	probably null
snail	UTSW	13	94479885	splice site	probably benign
stalk	UTSW	13	94472931	critical splice donor site	probably null
R0034:Ap3b1	UTSW	13	94479885	splice site	probably benign
R0265:Ap3b1	UTSW	13	94493681	missense	unknown
R0270:Ap3b1	UTSW	13	94404118	splice site	probably benign
R0346:Ap3b1	UTSW	13	94445971	nonsense	probably null
R0422:Ap3b1	UTSW	13	94462460	missense	probably damaging	0.99
R0496:Ap3b1	UTSW	13	94472938	splice site	probably benign
R0508:Ap3b1	UTSW	13	94565714	missense	unknown
R0764:Ap3b1	UTSW	13	94479879	splice site	probably benign
R1506:Ap3b1	UTSW	13	94446143	splice site	probably benign
R1593:Ap3b1	UTSW	13	94501927	missense	unknown
R1660:Ap3b1	UTSW	13	94408812	missense	probably damaging	0.98
R1735:Ap3b1	UTSW	13	94493717	missense	unknown
R1791:Ap3b1	UTSW	13	94408797	missense	possibly damaging	0.63
R1818:Ap3b1	UTSW	13	94471704	missense	possibly damaging	0.48
R2280:Ap3b1	UTSW	13	94528216	missense	unknown
R3031:Ap3b1	UTSW	13	94565643	missense	unknown
R3037:Ap3b1	UTSW	13	94445978	critical splice donor site	probably null
R4401:Ap3b1	UTSW	13	94418099	missense	probably damaging	1.00
R4402:Ap3b1	UTSW	13	94418099	missense	probably damaging	1.00
R4403:Ap3b1	UTSW	13	94418099	missense	probably damaging	1.00
R4532:Ap3b1	UTSW	13	94565735	missense	unknown
R4624:Ap3b1	UTSW	13	94483226	missense	unknown
R4626:Ap3b1	UTSW	13	94404078	missense	possibly damaging	0.51
R4754:Ap3b1	UTSW	13	94403960	missense	probably damaging	1.00
R4788:Ap3b1	UTSW	13	94565641	missense	unknown
R4847:Ap3b1	UTSW	13	94471779	missense	probably benign	0.15
R4886:Ap3b1	UTSW	13	94472805	missense	possibly damaging	0.50
R5096:Ap3b1	UTSW	13	94479849	missense	unknown
R5628:Ap3b1	UTSW	13	94477048	missense	unknown
R5671:Ap3b1	UTSW	13	94528257	missense	unknown
R5677:Ap3b1	UTSW	13	94528196	missense	unknown
R5862:Ap3b1	UTSW	13	94547770	missense	unknown
R5941:Ap3b1	UTSW	13	94440273	missense	probably benign	0.02
R5941:Ap3b1	UTSW	13	94483265	missense	probably damaging	0.96
R6043:Ap3b1	UTSW	13	94476993	missense	probably benign	0.09
R6212:Ap3b1	UTSW	13	94451073	missense	probably damaging	1.00
R6212:Ap3b1	UTSW	13	94493699	missense	unknown
R6301:Ap3b1	UTSW	13	94528295	missense	unknown
R6765:Ap3b1	UTSW	13	94462509	missense	probably benign	0.02
R6812:Ap3b1	UTSW	13	94479861	missense	unknown
R6888:Ap3b1	UTSW	13	94408791	missense	probably benign	0.42
R6901:Ap3b1	UTSW	13	94418142	missense	probably benign	0.00
R7157:Ap3b1	UTSW	13	94532034	nonsense	probably null
R7422:Ap3b1	UTSW	13	94528165	missense	unknown
R7642:Ap3b1	UTSW	13	94477032	missense	probably benign	0.19
R7710:Ap3b1	UTSW	13	94451073	missense	probably damaging	1.00
R7757:Ap3b1	UTSW	13	94528158	splice site	probably null
R7867:Ap3b1	UTSW	13	94483263	missense	unknown
R8492:Ap3b1	UTSW	13	94394786	missense	possibly damaging	0.60
R8706:Ap3b1	UTSW	13	94408845	critical splice donor site	probably null
R8749:Ap3b1	UTSW	13	94528217	missense	unknown
R8876:Ap3b1	UTSW	13	94404078	missense	possibly damaging	0.51
R8889:Ap3b1	UTSW	13	94542840	missense	unknown
R8892:Ap3b1	UTSW	13	94542840	missense	unknown
R9065:Ap3b1	UTSW	13	94471715	missense	probably damaging	1.00
R9152:Ap3b1	UTSW	13	94472931	critical splice donor site	probably null
R9152:Ap3b1	UTSW	13	94493731	missense	unknown
R9166:Ap3b1	UTSW	13	94471728	missense	probably damaging	1.00
R9218:Ap3b1	UTSW	13	94448451	critical splice acceptor site	probably null
R9269:Ap3b1	UTSW	13	94404062	missense	probably damaging	1.00

Posted On

2015-04-16