Incidental Mutation 'R1576:Ap3m2'
ID 171167
Institutional Source Beutler Lab
Gene Symbol Ap3m2
Ensembl Gene ENSMUSG00000031539
Gene Name adaptor-related protein complex 3, mu 2 subunit
Synonyms 5830445E16Rik, AP-3B
MMRRC Submission 039614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1576 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 23277370-23295638 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 23298483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 100% (49/49)
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
Apol11a T A 15: 77,401,131 (GRCm39) I206N probably damaging Het
Arfgap3 A G 15: 83,197,764 (GRCm39) S331P possibly damaging Het
Arhgef16 A C 4: 154,375,769 (GRCm39) L75R probably damaging Het
Cfi T C 3: 129,666,699 (GRCm39) V474A probably damaging Het
Dhx8 T C 11: 101,643,145 (GRCm39) V739A probably damaging Het
Dpy19l2 T A 9: 24,495,798 (GRCm39) H640L probably benign Het
Eif4g3 T A 4: 137,824,181 (GRCm39) M57K probably damaging Het
Emilin2 A G 17: 71,562,112 (GRCm39) probably null Het
Epc1 T C 18: 6,452,366 (GRCm39) E281G possibly damaging Het
Fancd2 G T 6: 113,555,366 (GRCm39) S1125I probably damaging Het
Fh1 G A 1: 175,435,385 (GRCm39) P366L probably null Het
Gata3 A T 2: 9,868,007 (GRCm39) S316T probably damaging Het
Hmcn1 A T 1: 150,532,992 (GRCm39) S3064T possibly damaging Het
Inpp5d A T 1: 87,597,407 (GRCm39) T193S probably benign Het
Inpp5d A T 1: 87,609,280 (GRCm39) I277F probably damaging Het
Itga5 T C 15: 103,260,044 (GRCm39) D616G probably damaging Het
Jade1 T A 3: 41,546,242 (GRCm39) V89E probably damaging Het
Lamb2 T C 9: 108,357,506 (GRCm39) S81P probably damaging Het
Lrrc19 G A 4: 94,527,590 (GRCm39) P207L probably damaging Het
Maea A G 5: 33,520,040 (GRCm39) D147G probably damaging Het
Muc6 T A 7: 141,214,437 (GRCm39) E2767V possibly damaging Het
Myom2 A G 8: 15,134,556 (GRCm39) Y453C probably damaging Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Nap1l1 A G 10: 111,330,681 (GRCm39) D362G probably damaging Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nudt21 A C 8: 94,755,461 (GRCm39) probably null Het
Nufip1 A G 14: 76,372,310 (GRCm39) N475D probably benign Het
Pcdhb8 A G 18: 37,489,756 (GRCm39) D478G probably damaging Het
Pla2g4d A G 2: 120,114,648 (GRCm39) S28P probably damaging Het
Polr2j C A 5: 136,148,882 (GRCm39) N29K probably damaging Het
Ppp2r2a A G 14: 67,276,318 (GRCm39) probably benign Het
Ptprk A G 10: 28,427,647 (GRCm39) D742G probably damaging Het
Pum2 A G 12: 8,763,524 (GRCm39) D227G probably benign Het
Rfxank C A 8: 70,586,953 (GRCm39) R221L possibly damaging Het
Shank3 C A 15: 89,387,866 (GRCm39) Q317K probably benign Het
Slc22a17 A G 14: 55,145,447 (GRCm39) V460A probably damaging Het
Slc39a11 G T 11: 113,450,361 (GRCm39) D41E probably damaging Het
Spag17 T C 3: 99,846,679 (GRCm39) S68P possibly damaging Het
Sstr5 C T 17: 25,710,272 (GRCm39) C319Y possibly damaging Het
Stk17b G T 1: 53,796,749 (GRCm39) D339E probably damaging Het
Tagln2 A G 1: 172,332,788 (GRCm39) D25G probably benign Het
Ttn C T 2: 76,625,194 (GRCm39) V13417I probably benign Het
Vps50 A G 6: 3,545,568 (GRCm39) E334G possibly damaging Het
Zfp316 T C 5: 143,249,849 (GRCm39) E138G unknown Het
Zfp879 T A 11: 50,724,376 (GRCm39) T227S 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCATCTGAAGCCGCTGAATGGAC -3'
(R):5'- AGCTGCCTAAGCAACCACTTCCTG -3'

Sequencing Primer
(F):5'- GCCGCTGAATGGACTCTTTG -3'
(R):5'- TAAGCAACCACTTCCTGAAATG -3'
Posted On 2014-04-13