Incidental Mutation 'R8288:Ap3m2'
ID638529
Institutional Source Beutler Lab
Gene Symbol Ap3m2
Ensembl Gene ENSMUSG00000031539
Gene Nameadaptor-related protein complex 3, mu 2 subunit
SynonymsAP-3B, 5830445E16Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8288 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location22787354-22805622 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22793137 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 200 (A200T)
Ref Sequence ENSEMBL: ENSMUSP00000128446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163739] [ENSMUST00000210656]
Predicted Effect probably benign
Transcript: ENSMUST00000163739
AA Change: A200T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: A200T

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 137 2.7e-8 PFAM
Pfam:Adap_comp_sub 165 418 1.3e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210656
AA Change: A200T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp19 T C 9: 75,037,632 M1T probably null Het
Baiap2 T A 11: 119,997,639 V407E probably damaging Het
Cdh18 A G 15: 23,445,987 T508A probably damaging Het
Cnnm3 C A 1: 36,511,993 A28E possibly damaging Het
Cpb1 A T 3: 20,265,367 C184* probably null Het
Ddb1 T C 19: 10,608,348 V142A probably benign Het
Disp2 T C 2: 118,790,281 V498A probably damaging Het
Dmgdh T C 13: 93,708,824 Y442H probably damaging Het
Eef2k T A 7: 120,903,381 M722K probably damaging Het
Erbb4 A G 1: 68,298,350 F603S probably damaging Het
Filip1l C T 16: 57,570,554 R502C probably damaging Het
Gbp9 C T 5: 105,105,733 V39M probably damaging Het
Gm17079 T C 14: 51,694,358 Y98C Het
Gstz1 A G 12: 87,147,830 M1V probably null Het
Hsd17b13 T G 5: 103,963,835 I281L probably benign Het
Hydin A G 8: 110,507,029 E1833G probably damaging Het
Irs1 G A 1: 82,287,961 Q845* probably null Het
Kctd11 C T 11: 69,880,057 G52R probably damaging Het
Kit T C 5: 75,654,489 S962P probably damaging Het
Lrrn1 C T 6: 107,566,994 probably benign Het
Mastl T C 2: 23,133,359 K451E probably damaging Het
Mptx2 A G 1: 173,274,789 V111A probably benign Het
Nuak2 G T 1: 132,327,841 C178F probably damaging Het
Pah G A 10: 87,538,185 R71H probably benign Het
Pclo C A 5: 14,712,871 T501K Het
Pla2g4e C T 2: 120,188,509 probably null Het
Polq A G 16: 37,027,910 E293G probably damaging Het
Rptor G A 11: 119,857,937 E782K probably benign Het
Scn7a T A 2: 66,675,974 R1524W probably damaging Het
Slc4a5 T C 6: 83,226,255 S46P probably benign Het
Srcap T A 7: 127,531,356 I664N probably damaging Het
Stk24 A C 14: 121,293,429 F372V possibly damaging Het
Szt2 T C 4: 118,389,776 S881G probably damaging Het
Trim40 T C 17: 36,883,318 D161G probably benign Het
Trip11 T C 12: 101,894,384 H234R possibly damaging Het
Trpc1 T C 9: 95,721,381 K366R probably damaging Het
Ugt2b35 T C 5: 87,001,457 L189P probably damaging Het
Unc80 A G 1: 66,473,350 S140G probably benign Het
Wdr60 A G 12: 116,213,725 F811S probably damaging Het
Zfp446 A G 7: 12,977,958 E36G probably benign Het
Zfp738 T A 13: 67,670,789 H361L possibly damaging Het
Other mutations in Ap3m2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Ap3m2 APN 8 22797227 splice site probably null
IGL01288:Ap3m2 APN 8 22803915 missense probably benign
IGL01391:Ap3m2 APN 8 22799647 missense probably benign 0.00
R0599:Ap3m2 UTSW 8 22793112 missense possibly damaging 0.88
R1566:Ap3m2 UTSW 8 22803951 missense probably damaging 1.00
R1576:Ap3m2 UTSW 8 22808467 unclassified probably benign
R2917:Ap3m2 UTSW 8 22799799 missense probably benign 0.00
R4884:Ap3m2 UTSW 8 22803981 missense probably damaging 1.00
R4995:Ap3m2 UTSW 8 22803776 missense probably benign 0.19
R5100:Ap3m2 UTSW 8 22789388 missense probably benign
R5738:Ap3m2 UTSW 8 22803861 missense possibly damaging 0.52
R7030:Ap3m2 UTSW 8 22799791 missense probably damaging 0.99
R7378:Ap3m2 UTSW 8 22804010 missense probably benign 0.31
R7602:Ap3m2 UTSW 8 22792754 missense probably benign 0.00
R7732:Ap3m2 UTSW 8 22797089 missense probably benign 0.00
R7866:Ap3m2 UTSW 8 22799658 missense probably benign 0.02
Z1177:Ap3m2 UTSW 8 22791321 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTCACCGCCACCATGATTAC -3'
(R):5'- ACTGGCACTCCATGATGGAC -3'

Sequencing Primer
(F):5'- GCCACCATGATTACTTCTTGTGCTAG -3'
(R):5'- TGGCACTCCATGATGGACAGATG -3'
Posted On2020-07-28