Incidental Mutation 'IGL01391:Ap3m2'
ID 79222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap3m2
Ensembl Gene ENSMUSG00000031539
Gene Name adaptor-related protein complex 3, mu 2 subunit
Synonyms 5830445E16Rik, AP-3B
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01391
Quality Score
Status
Chromosome 8
Chromosomal Location 23277370-23295638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23289663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 147 (I147F)
Ref Sequence ENSEMBL: ENSMUSP00000147967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163739] [ENSMUST00000210656]
AlphaFold Q8R2R9
Predicted Effect probably benign
Transcript: ENSMUST00000163739
AA Change: I147F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: I147F

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 137 2.7e-8 PFAM
Pfam:Adap_comp_sub 165 418 1.3e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210476
Predicted Effect probably benign
Transcript: ENSMUST00000210656
AA Change: I147F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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 subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null mice suffer from spontaneous recurrent epileptic seizures, are more susceptible to drug-induced seizures and show impaired GABA release, fewer synaptic vesicles, enhanced long-term potentiation, and abnormal propagation of neuronal excitability via the temporoammonic pathway. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Areg T A 5: 91,288,954 (GRCm39) S87T probably damaging Het
Arid1b T A 17: 5,369,133 (GRCm39) probably benign Het
Arl6ip6 A G 2: 53,082,156 (GRCm39) R8G probably benign Het
Brms1 A G 19: 5,096,723 (GRCm39) E135G possibly damaging Het
Ccser1 A G 6: 61,615,505 (GRCm39) probably benign Het
Dock3 A T 9: 106,784,433 (GRCm39) M258K possibly damaging Het
Epb41l4a T G 18: 33,934,678 (GRCm39) D562A possibly damaging Het
Etaa1 G A 11: 17,896,005 (GRCm39) T704I probably damaging Het
Fer1l4 T A 2: 155,878,376 (GRCm39) H972L probably damaging Het
Foxn1 A G 11: 78,252,320 (GRCm39) M356T probably damaging Het
Gfral C A 9: 76,072,107 (GRCm39) G388* probably null Het
Gm12258 A G 11: 58,739,520 (GRCm39) T3A probably benign Het
Hoxa5 T C 6: 52,181,311 (GRCm39) N7S probably damaging Het
Itgb4 T C 11: 115,881,746 (GRCm39) L765P probably damaging Het
Jchain C T 5: 88,669,383 (GRCm39) C90Y probably damaging Het
Klhl40 A G 9: 121,607,983 (GRCm39) Y381C probably damaging Het
Lhx6 A T 2: 35,993,477 (GRCm39) C74S probably benign Het
Magel2 A G 7: 62,030,632 (GRCm39) S1179G unknown Het
Mapre3 T C 5: 31,022,241 (GRCm39) I236T probably damaging Het
Mcf2l A T 8: 13,064,010 (GRCm39) probably null Het
Med13 A T 11: 86,219,323 (GRCm39) H374Q probably benign Het
Meioc A G 11: 102,565,113 (GRCm39) Y187C probably benign Het
Myh1 G A 11: 67,108,689 (GRCm39) M1368I probably benign Het
Or14a258 A T 7: 86,035,208 (GRCm39) I220N possibly damaging Het
Or8b54 A G 9: 38,686,826 (GRCm39) I92V probably damaging Het
Phrf1 T C 7: 140,842,394 (GRCm39) Y1501H probably damaging Het
Pigb T C 9: 72,929,573 (GRCm39) T337A probably damaging Het
Pls1 T C 9: 95,655,751 (GRCm39) K334E probably benign Het
Pramel51 C T 12: 88,145,225 (GRCm39) V34I possibly damaging Het
Rab3b T C 4: 108,797,999 (GRCm39) C226R probably damaging Het
Ryr2 A T 13: 11,571,571 (GRCm39) I4889N possibly damaging Het
Serpinb1a G A 13: 33,029,398 (GRCm39) S210L probably benign Het
Slc52a3 A G 2: 151,849,522 (GRCm39) I390V probably benign Het
Slc6a7 C A 18: 61,136,382 (GRCm39) A340S probably damaging Het
Tcaf3 T C 6: 42,570,615 (GRCm39) Y379C probably damaging Het
Tex261 A G 6: 83,748,222 (GRCm39) V180A probably benign Het
Tnnt1 C T 7: 4,517,211 (GRCm39) probably null Het
Ttn T C 2: 76,798,847 (GRCm39) T476A possibly damaging Het
Vcan A G 13: 89,852,288 (GRCm39) S891P probably benign Het
Vmn2r16 T A 5: 109,511,627 (GRCm39) D611E possibly damaging Het
Vmn2r68 T C 7: 84,886,819 (GRCm39) T32A probably benign Het
Vwde T G 6: 13,190,526 (GRCm39) S522R probably benign Het
Wdr3 G A 3: 100,054,105 (GRCm39) probably benign Het
Wfs1 G T 5: 37,128,907 (GRCm39) Q288K probably benign Het
Zfp142 A G 1: 74,618,699 (GRCm39) V120A probably damaging Het
Zfp672 A G 11: 58,208,192 (GRCm39) F43S probably damaging Het
Znhit3 A T 11: 84,802,283 (GRCm39) probably benign Het
Other mutations in Ap3m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Ap3m2 APN 8 23,287,243 (GRCm39) splice site probably null
IGL01288:Ap3m2 APN 8 23,293,931 (GRCm39) missense probably benign
R0599:Ap3m2 UTSW 8 23,283,128 (GRCm39) missense possibly damaging 0.88
R1566:Ap3m2 UTSW 8 23,293,967 (GRCm39) missense probably damaging 1.00
R1576:Ap3m2 UTSW 8 23,298,483 (GRCm39) unclassified probably benign
R2917:Ap3m2 UTSW 8 23,289,815 (GRCm39) missense probably benign 0.00
R4884:Ap3m2 UTSW 8 23,293,997 (GRCm39) missense probably damaging 1.00
R4995:Ap3m2 UTSW 8 23,293,792 (GRCm39) missense probably benign 0.19
R5100:Ap3m2 UTSW 8 23,279,404 (GRCm39) missense probably benign
R5738:Ap3m2 UTSW 8 23,293,877 (GRCm39) missense possibly damaging 0.52
R7030:Ap3m2 UTSW 8 23,289,807 (GRCm39) missense probably damaging 0.99
R7378:Ap3m2 UTSW 8 23,294,026 (GRCm39) missense probably benign 0.31
R7602:Ap3m2 UTSW 8 23,282,770 (GRCm39) missense probably benign 0.00
R7732:Ap3m2 UTSW 8 23,287,105 (GRCm39) missense probably benign 0.00
R7866:Ap3m2 UTSW 8 23,289,674 (GRCm39) missense probably benign 0.02
R8288:Ap3m2 UTSW 8 23,283,153 (GRCm39) missense probably benign 0.03
R9181:Ap3m2 UTSW 8 23,289,774 (GRCm39) missense probably damaging 1.00
R9358:Ap3m2 UTSW 8 23,280,959 (GRCm39) missense possibly damaging 0.53
Z1177:Ap3m2 UTSW 8 23,281,337 (GRCm39) missense probably benign 0.06
Posted On 2013-11-05