Incidental Mutation 'R9358:Ap3m2'
ID 708528
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9358 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 23277370-23295638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23280959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 365 (S365F)
Ref Sequence ENSEMBL: ENSMUSP00000128446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163739] [ENSMUST00000210656]
AlphaFold Q8R2R9
Predicted Effect possibly damaging
Transcript: ENSMUST00000163739
AA Change: S365F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: S365F

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 137 2.7e-8 PFAM
Pfam:Adap_comp_sub 165 418 1.3e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210656
AA Change: S365F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,474,976 (GRCm39) K149* probably null Het
Apob T A 12: 8,060,833 (GRCm39) I3105K probably benign Het
Arfgef3 A G 10: 18,492,628 (GRCm39) L1261P probably damaging Het
Armc8 A G 9: 99,450,653 (GRCm39) probably null Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Cachd1 G A 4: 100,833,622 (GRCm39) V800M probably damaging Het
Camta1 A G 4: 151,222,881 (GRCm39) L892P probably damaging Het
Cfap58 C T 19: 47,962,987 (GRCm39) R466* probably null Het
Cilp A G 9: 65,183,269 (GRCm39) Q391R probably benign Het
Cracd A T 5: 77,002,836 (GRCm39) I137F probably damaging Het
Ctcfl T A 2: 172,960,581 (GRCm39) M1L possibly damaging Het
Dnah14 G A 1: 181,536,598 (GRCm39) A2414T probably benign Het
Dnah2 A G 11: 69,406,592 (GRCm39) L550P probably damaging Het
Erich6b T A 14: 75,902,668 (GRCm39) S162T probably benign Het
Fbxw7 C A 3: 84,883,561 (GRCm39) H578Q Het
Fer T C 17: 64,280,076 (GRCm39) L418P possibly damaging Het
Fndc3b A C 3: 27,505,556 (GRCm39) L904R possibly damaging Het
Gabrg1 A T 5: 70,935,422 (GRCm39) I249N possibly damaging Het
Gbe1 T A 16: 70,238,127 (GRCm39) D304E probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpatch4 G T 3: 87,962,452 (GRCm39) E222* probably null Het
Heatr1 A T 13: 12,433,087 (GRCm39) T1146S probably benign Het
Hrc A C 7: 44,985,984 (GRCm39) E378D probably benign Het
Hspg2 G T 4: 137,244,909 (GRCm39) R878L probably damaging Het
Igkv1-122 A G 6: 67,993,756 (GRCm39) M11V probably benign Het
Itih3 T A 14: 30,643,885 (GRCm39) K75* probably null Het
Jag1 A G 2: 136,924,948 (GRCm39) V1218A probably benign Het
Kif28 C T 1: 179,563,695 (GRCm39) D94N probably benign Het
Lama2 G A 10: 27,064,378 (GRCm39) T1201M possibly damaging Het
Lama2 A G 10: 27,492,761 (GRCm39) L11P unknown Het
Lrfn2 T C 17: 49,403,530 (GRCm39) V551A probably damaging Het
Lrrc8d A G 5: 105,960,358 (GRCm39) N256S probably benign Het
Mindy1 C T 3: 95,202,590 (GRCm39) L394F probably benign Het
Mon2 A G 10: 122,868,452 (GRCm39) S534P probably benign Het
Mrps5 T A 2: 127,437,734 (GRCm39) I187N probably benign Het
Mto1 A G 9: 78,364,840 (GRCm39) M360V probably benign Het
Muc16 T G 9: 18,553,520 (GRCm39) I4258L probably benign Het
Myo10 A G 15: 25,781,520 (GRCm39) D1005G possibly damaging Het
Myo18b T A 5: 112,943,269 (GRCm39) R1645S possibly damaging Het
Naip2 A T 13: 100,298,080 (GRCm39) V652D probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncapd2 A T 6: 125,163,106 (GRCm39) M134K probably benign Het
Nup107 A G 10: 117,586,868 (GRCm39) F893S probably damaging Het
Or10j3 A T 1: 173,031,741 (GRCm39) R273W probably damaging Het
Or11h23 A G 14: 50,947,802 (GRCm39) E5G probably benign Het
Or1e35 A T 11: 73,797,451 (GRCm39) I289N probably damaging Het
Or4f14b A G 2: 111,775,429 (GRCm39) V124A probably benign Het
Or5p64 C T 7: 107,854,799 (GRCm39) C182Y probably damaging Het
Pcgf1 G T 6: 83,056,433 (GRCm39) R124L probably benign Het
Pdcd10 A T 3: 75,448,533 (GRCm39) N10K probably damaging Het
Pdx1 C T 5: 147,207,064 (GRCm39) Q6* probably null Het
Plcl1 T C 1: 55,735,810 (GRCm39) S384P probably damaging Het
Serpina1b T A 12: 103,694,653 (GRCm39) T364S possibly damaging Het
Slc5a11 C T 7: 122,857,775 (GRCm39) T288I probably damaging Het
Slc6a1 A T 6: 114,291,271 (GRCm39) S515C probably damaging Het
Snca A T 6: 60,710,121 (GRCm39) D119E probably benign Het
Sorcs2 T C 5: 36,200,814 (GRCm39) D578G probably damaging Het
Sulf1 T A 1: 12,890,729 (GRCm39) L389Q probably damaging Het
Thoc2l T C 5: 104,667,826 (GRCm39) F783L possibly damaging Het
Tln1 A C 4: 43,532,084 (GRCm39) I2501S possibly damaging Het
Tmem191 A G 16: 17,094,257 (GRCm39) E27G probably damaging Het
Tmem200a G T 10: 25,869,677 (GRCm39) N197K probably benign Het
Tmem207 A T 16: 26,345,434 (GRCm39) S11T probably benign Het
Ttn T C 2: 76,564,953 (GRCm39) T28425A probably damaging Het
Ush2a C T 1: 188,607,147 (GRCm39) T4014M probably benign Het
Vac14 G A 8: 111,439,379 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,477,197 (GRCm39) I398K probably damaging Het
Vmn2r77 A T 7: 86,452,236 (GRCm39) H472L probably benign Het
Vps45 C T 3: 95,940,976 (GRCm39) probably null Het
Wdr26 T C 1: 181,019,423 (GRCm39) H334R probably damaging Het
Zfp268 A T 4: 145,349,613 (GRCm39) Y350F possibly damaging Het
Zmynd10 A G 9: 107,426,249 (GRCm39) D132G possibly damaging Het
Zpbp2 A G 11: 98,444,774 (GRCm39) T123A 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
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
Z1177:Ap3m2 UTSW 8 23,281,337 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AATGATTGAGTCTGCATCGGG -3'
(R):5'- CCCATCAGAGGTGGCTTATAGTG -3'

Sequencing Primer
(F):5'- TCTGCATCGGGTAATAAAGCC -3'
(R):5'- CTTATAGTGTGGAAGGCAGGC -3'
Posted On 2022-04-18