Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03033:Ap3b1'

408538

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 #

IGL03033

Quality Score

Status

Chromosome

Chromosomal Location

94495468-94702825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94585003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 405 (T405A)

Ref Sequence

ENSEMBL: ENSMUSP00000022196 (fasta)

Gene Model

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

AlphaFold

Q9Z1T1

Predicted Effect

probably benign
Transcript: ENSMUST00000022196
AA Change: T405A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022196
Gene: ENSMUSG00000021686
AA Change: T405A

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,452 (GRCm39)	T566S	probably benign	Het
Bicd2	G	T	13: 49,533,396 (GRCm39)	V587L	probably benign	Het
Bsn	A	T	9: 107,993,192 (GRCm39)	D853E	probably damaging	Het
Cacna1i	C	A	15: 80,246,440 (GRCm39)	N611K	probably damaging	Het
Capn11	A	G	17: 45,953,473 (GRCm39)	L227P	probably damaging	Het
Copb2	A	G	9: 98,452,426 (GRCm39)	N70S	probably benign	Het
Ddb1	T	C	19: 10,603,290 (GRCm39)	V866A	possibly damaging	Het
Dst	A	G	1: 34,208,826 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,551 (GRCm39)	Y117C	probably damaging	Het
Esyt1	T	G	10: 128,352,252 (GRCm39)	R758S	probably benign	Het
Gm20441	A	G	10: 75,607,326 (GRCm39)	F55S	probably damaging	Het
Gm20547	A	T	17: 35,078,492 (GRCm39)	M362K	probably damaging	Het
Gucy1b2	A	G	14: 62,653,393 (GRCm39)	V334A	probably benign	Het
Hnrnph3	A	T	10: 62,853,958 (GRCm39)	F53L	probably benign	Het
Kcnk18	C	T	19: 59,223,616 (GRCm39)	P254S	probably benign	Het
Lrfn5	T	A	12: 61,886,833 (GRCm39)	L207Q	probably damaging	Het
Lrp3	T	C	7: 34,902,052 (GRCm39)	M589V	possibly damaging	Het
Nlrp1b	A	G	11: 71,052,665 (GRCm39)	V918A	probably benign	Het
Nsg2	A	G	11: 31,951,836 (GRCm39)	T29A	probably damaging	Het
Or51b4	T	A	7: 103,530,724 (GRCm39)	H242L	probably damaging	Het
Pank4	C	T	4: 155,059,172 (GRCm39)	T435I	probably damaging	Het
Prom1	C	T	5: 44,163,502 (GRCm39)		probably null	Het
Prr14	G	T	7: 127,071,135 (GRCm39)	L3F	probably damaging	Het
Rfx7	A	T	9: 72,440,271 (GRCm39)		probably benign	Het
Rhbdl3	A	G	11: 80,237,653 (GRCm39)	N295S	probably damaging	Het
Ripk3	A	G	14: 56,024,622 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,269,092 (GRCm39)	N310I	possibly damaging	Het
Rpl23a	T	C	11: 78,072,408 (GRCm39)	Y74C	possibly damaging	Het
Rtp3	A	T	9: 110,815,162 (GRCm39)		probably benign	Het
Sbno1	A	T	5: 124,514,213 (GRCm39)	N1326K	probably damaging	Het
Sepsecs	T	C	5: 52,818,018 (GRCm39)	N253S	probably damaging	Het
Setd2	A	C	9: 110,380,343 (GRCm39)	E1386A	possibly damaging	Het
Sf3b3	T	C	8: 111,537,596 (GRCm39)	I1211V	possibly damaging	Het
Sh3tc2	G	A	18: 62,107,549 (GRCm39)	V187M	possibly damaging	Het
Slc30a6	G	T	17: 74,716,373 (GRCm39)	E136*	probably null	Het
Sptan1	T	A	2: 29,881,045 (GRCm39)	V438E	probably damaging	Het
Stab2	A	G	10: 86,832,667 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,635 (GRCm39)		probably benign	Het
Tmem198	A	G	1: 75,459,612 (GRCm39)	D189G	possibly damaging	Het
Tnfrsf8	C	A	4: 145,019,219 (GRCm39)	L205F	possibly damaging	Het
Vmn1r68	T	A	7: 10,262,074 (GRCm39)	E8V	probably damaging	Het
Wnk3	G	A	X: 150,059,924 (GRCm39)	D742N	probably damaging	Het
Xpc	A	T	6: 91,468,297 (GRCm39)		probably null	Het
Zfp113	A	T	5: 138,149,458 (GRCm39)		probably benign	Het
Zfp120	A	T	2: 149,961,794 (GRCm39)	D51E	probably benign	Het
Zfp473	C	T	7: 44,382,522 (GRCm39)	V603M	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
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
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

2016-08-02