Incidental Mutation 'IGL02040:Ap3b1'
ID 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 AP-3, Hps2, beta3A, rim2, recombination induced mutation 2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # IGL02040
Quality Score
Status
Chromosome 13
Chromosomal Location 94495468-94702825 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 94545353 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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T G 5: 3,630,405 (GRCm39) F107C probably damaging Het
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
A830018L16Rik T A 1: 12,003,822 (GRCm39) probably benign Het
Adgrb1 T C 15: 74,413,424 (GRCm39) V536A possibly damaging Het
Ano6 T G 15: 95,853,825 (GRCm39) I667R probably benign Het
Azin2 G T 4: 128,844,451 (GRCm39) L37M possibly damaging Het
Caap1 A G 4: 94,438,667 (GRCm39) I174T probably damaging Het
Cacna1h A G 17: 25,616,585 (GRCm39) V46A probably benign Het
Chrna6 T C 8: 27,897,289 (GRCm39) D196G probably damaging Het
Col19a1 A G 1: 24,351,126 (GRCm39) probably null Het
Defb22 G T 2: 152,331,976 (GRCm39) T19K possibly damaging Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dync1h1 A G 12: 110,603,558 (GRCm39) I2211V probably benign Het
Ecel1 A C 1: 87,082,645 (GRCm39) C23G probably benign Het
Elmod2 A G 8: 84,048,126 (GRCm39) V112A probably damaging Het
Enpp1 T C 10: 24,531,754 (GRCm39) K510E probably damaging Het
Erbb4 A T 1: 68,081,694 (GRCm39) S1113R probably damaging Het
Esf1 A T 2: 139,971,181 (GRCm39) D653E possibly damaging Het
Exd1 A G 2: 119,370,546 (GRCm39) V54A possibly damaging Het
Fam227b A T 2: 125,963,004 (GRCm39) probably benign Het
Fnbp1l A G 3: 122,364,602 (GRCm39) probably benign Het
Foxf1 A G 8: 121,812,084 (GRCm39) N316S probably damaging Het
Gpaa1 T C 15: 76,218,495 (GRCm39) V426A probably benign Het
Gpc2 A G 5: 138,274,844 (GRCm39) probably null Het
Hnrnpab A G 11: 51,492,622 (GRCm39) probably benign Het
Hsf4 T G 8: 106,002,299 (GRCm39) probably benign Het
Inpp4a G T 1: 37,435,166 (GRCm39) R179L probably damaging Het
Jakmip2 T A 18: 43,704,919 (GRCm39) M361L probably benign Het
Kif15 A C 9: 122,846,450 (GRCm39) Y117S probably damaging Het
Lnpep T C 17: 17,765,167 (GRCm39) H761R probably benign Het
Masp2 G T 4: 148,688,270 (GRCm39) C180F probably damaging Het
Mical2 A G 7: 111,910,613 (GRCm39) E261G probably damaging Het
Mtmr7 T C 8: 41,013,926 (GRCm39) I211V probably benign Het
Nsd2 T C 5: 34,024,915 (GRCm39) probably benign Het
Or4c121 A G 2: 89,023,907 (GRCm39) I157T probably benign Het
Or51q1c A G 7: 103,652,614 (GRCm39) N44S probably damaging Het
Or8d1b T C 9: 38,887,910 (GRCm39) probably benign Het
Or8j3c A G 2: 86,253,336 (GRCm39) I228T probably damaging Het
Oxct1 G A 15: 4,056,250 (GRCm39) probably benign Het
Pira13 A G 7: 3,824,516 (GRCm39) probably benign Het
Plbd2 C T 5: 120,625,507 (GRCm39) S430N probably damaging Het
Postn A G 3: 54,270,110 (GRCm39) K63R probably benign Het
Pramel19 G A 4: 101,798,331 (GRCm39) V101I possibly damaging Het
Proc A T 18: 32,267,913 (GRCm39) V75E probably benign Het
Ptprt T C 2: 162,079,992 (GRCm39) Y269C probably damaging Het
Rcc2 T C 4: 140,447,902 (GRCm39) V476A possibly damaging Het
Recql5 A G 11: 115,823,623 (GRCm39) V41A possibly damaging Het
Ros1 T A 10: 51,992,018 (GRCm39) I1402F probably damaging Het
Rpgrip1 C T 14: 52,358,476 (GRCm39) T194I possibly damaging Het
Scin T C 12: 40,119,452 (GRCm39) probably benign Het
Skint4 T C 4: 112,003,679 (GRCm39) probably benign Het
Sptan1 T A 2: 29,903,725 (GRCm39) S1545T probably benign Het
Tpra1 A T 6: 88,887,164 (GRCm39) H168L possibly damaging Het
Trim47 T C 11: 115,998,734 (GRCm39) E295G probably damaging Het
Ttc28 T A 5: 111,040,802 (GRCm39) C63* probably null Het
Usp45 G A 4: 21,830,433 (GRCm39) R696H probably benign Het
Zfyve27 G A 19: 42,167,830 (GRCm39) R124Q probably damaging Het
Other mutations in Ap3b1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2014-05-07