Incidental Mutation 'IGL01288:Ap3m2'
ID 72823
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 # IGL01288
Quality Score
Status
Chromosome 8
Chromosomal Location 23277370-23295638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23293931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 40 (T40A)
Ref Sequence ENSEMBL: ENSMUSP00000147967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163739] [ENSMUST00000210656]
AlphaFold Q8R2R9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068068
Predicted Effect probably benign
Transcript: ENSMUST00000163739
AA Change: T40A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: T40A

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: ENSMUST00000186344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210476
Predicted Effect probably benign
Transcript: ENSMUST00000210656
AA Change: T40A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 123,507,381 (GRCm39) probably benign Het
Acsl3 G T 1: 78,677,476 (GRCm39) W490L possibly damaging Het
Ahnak A G 19: 8,979,858 (GRCm39) I381V possibly damaging Het
Aox1 A G 1: 58,333,566 (GRCm39) Y261C probably damaging Het
Arfgef1 C T 1: 10,283,436 (GRCm39) A158T possibly damaging Het
Atp1a4 T C 1: 172,085,474 (GRCm39) E43G possibly damaging Het
Cog5 C T 12: 31,936,205 (GRCm39) T584I probably benign Het
Cpa1 G A 6: 30,640,582 (GRCm39) V75M probably damaging Het
Cul7 A G 17: 46,968,733 (GRCm39) probably benign Het
Dennd2b A G 7: 109,139,029 (GRCm39) I668T probably damaging Het
Dop1b T C 16: 93,536,181 (GRCm39) I93T possibly damaging Het
Dyrk2 T C 10: 118,696,604 (GRCm39) Y218C probably damaging Het
Efr3b T C 12: 4,032,865 (GRCm39) Y164C probably damaging Het
Etos1 C A 7: 130,373,935 (GRCm39) probably benign Het
Fam13a A G 6: 58,933,712 (GRCm39) Y293H probably damaging Het
Gde1 A T 7: 118,290,863 (GRCm39) V154D possibly damaging Het
Glyat A G 19: 12,627,719 (GRCm39) T105A possibly damaging Het
Il36b A T 2: 24,049,925 (GRCm39) I179L probably benign Het
Kif21b C T 1: 136,099,922 (GRCm39) T1492M probably benign Het
Kmt2d G T 15: 98,762,925 (GRCm39) P282T probably damaging Het
Lgi4 A G 7: 30,768,468 (GRCm39) E489G probably benign Het
Lipn A C 19: 34,056,435 (GRCm39) E260D probably benign Het
Mdn1 A G 4: 32,730,864 (GRCm39) D2911G probably benign Het
Nab2 C T 10: 127,500,978 (GRCm39) R38Q probably damaging Het
Or1e35 A T 11: 73,798,139 (GRCm39) Y60N probably damaging Het
Or4c1 A T 2: 89,133,816 (GRCm39) V40E possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or52i2 A G 7: 102,319,858 (GRCm39) T244A probably damaging Het
Or5t16 C A 2: 86,818,598 (GRCm39) M307I probably benign Het
Or6f2 T C 7: 139,756,528 (GRCm39) L165P probably damaging Het
Osbpl6 T C 2: 76,395,167 (GRCm39) S337P probably damaging Het
Phf8 T C X: 150,330,921 (GRCm39) probably null Het
Pik3c2b C T 1: 133,022,543 (GRCm39) H1162Y probably damaging Het
Plek2 T C 12: 78,941,727 (GRCm39) D134G possibly damaging Het
Rnf139 G A 15: 58,771,028 (GRCm39) R351H probably damaging Het
Shld2 A T 14: 33,981,600 (GRCm39) Y513N probably benign Het
Skint5 T C 4: 113,381,332 (GRCm39) probably benign Het
Slc12a9 C T 5: 137,329,200 (GRCm39) probably null Het
Stradb C A 1: 59,031,460 (GRCm39) H216N possibly damaging Het
Tex15 C T 8: 34,061,412 (GRCm39) H281Y probably benign Het
Tg G T 15: 66,608,125 (GRCm39) V237L possibly damaging Het
Tns1 T A 1: 73,992,969 (GRCm39) T570S probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Wdfy3 G T 5: 102,049,857 (GRCm39) probably null Het
Zc3h12c A G 9: 52,028,951 (GRCm39) probably benign Het
Zmynd8 T A 2: 165,654,734 (GRCm39) S584C probably damaging Het
Other mutations in Ap3m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Ap3m2 APN 8 23,287,243 (GRCm39) splice site probably null
IGL01391:Ap3m2 APN 8 23,289,663 (GRCm39) missense probably benign 0.00
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 2013-10-07