Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:Ap3b1'

184723

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: 0.441) question?

Stock #

IGL02040

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 A at 94408845 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	G	5: 3,580,405	F107C	probably damaging	Het
4930590J08Rik	T	C	6: 91,918,110	V262A	probably benign	Het
A830018L16Rik	T	A	1: 11,933,598		probably benign	Het
Adgrb1	T	C	15: 74,541,575	V536A	possibly damaging	Het
Ano6	T	G	15: 95,955,944	I667R	probably benign	Het
Azin2	G	T	4: 128,950,658	L37M	possibly damaging	Het
Caap1	A	G	4: 94,550,430	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,397,611	V46A	probably benign	Het
Chrna6	T	C	8: 27,407,261	D196G	probably damaging	Het
Col19a1	A	G	1: 24,312,045		probably null	Het
Defb22	G	T	2: 152,490,056	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,501,015	D134G	probably benign	Het
Dync1h1	A	G	12: 110,637,124	I2211V	probably benign	Het
Ecel1	A	C	1: 87,154,923	C23G	probably benign	Het
Elmod2	A	G	8: 83,321,497	V112A	probably damaging	Het
Enpp1	T	C	10: 24,655,856	K510E	probably damaging	Het
Erbb4	A	T	1: 68,042,535	S1113R	probably damaging	Het
Esf1	A	T	2: 140,129,261	D653E	possibly damaging	Het
Exd1	A	G	2: 119,540,065	V54A	possibly damaging	Het
Fam227b	A	T	2: 126,121,084		probably benign	Het
Fnbp1l	A	G	3: 122,570,953		probably benign	Het
Foxf1	A	G	8: 121,085,345	N316S	probably damaging	Het
Gm12794	G	A	4: 101,941,134	V101I	possibly damaging	Het
Gm15448	A	G	7: 3,821,517		probably benign	Het
Gpaa1	T	C	15: 76,334,295	V426A	probably benign	Het
Gpc2	A	G	5: 138,276,582		probably null	Het
Hnrnpab	A	G	11: 51,601,795		probably benign	Het
Hsf4	T	G	8: 105,275,667		probably benign	Het
Inpp4a	G	T	1: 37,396,085	R179L	probably damaging	Het
Jakmip2	T	A	18: 43,571,854	M361L	probably benign	Het
Kif15	A	C	9: 123,017,385	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,544,905	H761R	probably benign	Het
Masp2	G	T	4: 148,603,813	C180F	probably damaging	Het
Mical2	A	G	7: 112,311,406	E261G	probably damaging	Het
Mtmr7	T	C	8: 40,560,885	I211V	probably benign	Het
Nsd2	T	C	5: 33,867,571		probably benign	Het
Olfr1062	A	G	2: 86,422,992	I228T	probably damaging	Het
Olfr1226	A	G	2: 89,193,563	I157T	probably benign	Het
Olfr638	A	G	7: 104,003,407	N44S	probably damaging	Het
Olfr933	T	C	9: 38,976,614		probably benign	Het
Oxct1	G	A	15: 4,026,768		probably benign	Het
Plbd2	C	T	5: 120,487,442	S430N	probably damaging	Het
Postn	A	G	3: 54,362,689	K63R	probably benign	Het
Proc	A	T	18: 32,134,860	V75E	probably benign	Het
Ptprt	T	C	2: 162,238,072	Y269C	probably damaging	Het
Rcc2	T	C	4: 140,720,591	V476A	possibly damaging	Het
Recql5	A	G	11: 115,932,797	V41A	possibly damaging	Het
Ros1	T	A	10: 52,115,922	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,121,019	T194I	possibly damaging	Het
Scin	T	C	12: 40,069,453		probably benign	Het
Skint4	T	C	4: 112,146,482		probably benign	Het
Sptan1	T	A	2: 30,013,713	S1545T	probably benign	Het
Tpra1	A	T	6: 88,910,182	H168L	possibly damaging	Het
Trim47	T	C	11: 116,107,908	E295G	probably damaging	Het
Ttc28	T	A	5: 110,892,936	C63*	probably null	Het
Usp45	G	A	4: 21,830,433	R696H	probably benign	Het
Zfyve27	G	A	19: 42,179,391	R124Q	probably damaging	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
IGL02119:Ap3b1	APN	13	94462403	missense	probably benign	0.01
IGL02247:Ap3b1	APN	13	94394795	critical splice donor site	probably null
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	94451086	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

2014-05-07