Incidental Mutation 'R1566:Ap3m2'
Institutional Source Beutler Lab
Gene Symbol Ap3m2
Ensembl Gene ENSMUSG00000031539
Gene Nameadaptor-related protein complex 3, mu 2 subunit
SynonymsAP-3B, 5830445E16Rik
MMRRC Submission 039605-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1566 (G1)
Quality Score225
Status Not validated
Chromosomal Location22787354-22805622 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22803951 bp
Amino Acid Change Valine to Methionine at position 28 (V28M)
Ref Sequence ENSEMBL: ENSMUSP00000147967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163739] [ENSMUST00000210656]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068068
Predicted Effect probably damaging
Transcript: ENSMUST00000163739
AA Change: V28M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128446
Gene: ENSMUSG00000031539
AA Change: V28M

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 damaging
Transcript: ENSMUST00000210656
AA Change: V28M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,788,806 I247F probably benign Het
Afap1l1 T C 18: 61,755,643 N119S probably benign Het
Ap2a1 T C 7: 44,903,480 D721G probably benign Het
Arhgef7 A G 8: 11,782,620 T32A possibly damaging Het
Avl9 C T 6: 56,736,482 R242* probably null Het
Bsn G A 9: 108,125,985 T407I probably benign Het
Capn3 A T 2: 120,502,993 R627S possibly damaging Het
Car13 G A 3: 14,650,698 R92Q probably benign Het
Clcn1 T C 6: 42,291,440 I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 G514V probably damaging Het
Ctsw C A 19: 5,465,417 C347F probably damaging Het
Dna2 C T 10: 62,949,187 R28W probably benign Het
Eml1 T A 12: 108,471,892 V97D probably damaging Het
Epb41l1 A G 2: 156,521,959 E796G probably benign Het
Gdnf A G 15: 7,834,414 K102R probably benign Het
Gm1110 T C 9: 26,880,870 E618G probably damaging Het
Gm8300 A T 12: 87,517,231 H112L probably benign Het
Gmnc T C 16: 26,963,939 D22G probably damaging Het
Greb1 T C 12: 16,711,828 D517G possibly damaging Het
Gsta1 A T 9: 78,242,459 K185* probably null Het
Ift88 A G 14: 57,441,011 D160G probably benign Het
Intu T A 3: 40,692,578 I627N probably damaging Het
Itgav T A 2: 83,736,630 F101L probably damaging Het
Kars C T 8: 111,997,658 V475I probably benign Het
Klra3 G C 6: 130,333,144 R138G probably benign Het
Klra7 A G 6: 130,231,601 V6A probably damaging Het
Krtap6-2 A G 16: 89,419,738 S114P unknown Het
Ldlrad4 T C 18: 68,250,598 S122P probably benign Het
Lig4 C A 8: 9,973,650 L43F probably benign Het
Mfsd4a T C 1: 132,059,179 D137G probably damaging Het
Mmel1 C T 4: 154,883,653 R149C probably damaging Het
Morc2b T A 17: 33,136,974 H608L probably benign Het
Mrgpra6 G A 7: 47,188,904 T182I probably benign Het
Nat8l C A 5: 34,000,856 N203K probably benign Het
Nin A T 12: 70,054,479 V448E probably damaging Het
Olfr1053 G A 2: 86,314,785 T167I probably benign Het
Olfr164 T A 16: 19,286,327 M139L possibly damaging Het
Olfr17 T G 7: 107,097,552 F29C probably damaging Het
Olfr178 T A 16: 58,889,540 I227F probably damaging Het
Pank4 T C 4: 154,980,521 L759P probably damaging Het
Pcm1 T A 8: 41,290,773 N1152K probably damaging Het
Pitpnm3 A T 11: 72,058,959 probably null Het
Plekhg3 T C 12: 76,572,065 M497T possibly damaging Het
Ppfia3 T C 7: 45,340,688 D1138G probably damaging Het
Prl6a1 T A 13: 27,315,427 S59R possibly damaging Het
Pth2r A G 1: 65,388,538 S457G possibly damaging Het
Rbm25 T A 12: 83,675,054 N671K probably damaging Het
Rbm26 T A 14: 105,160,544 K47N unknown Het
Ryr1 T A 7: 29,092,175 I1435F possibly damaging Het
Scin T A 12: 40,081,674 H287L probably benign Het
Serpinb9e T C 13: 33,253,494 L120P probably damaging Het
Slc34a1 A C 13: 55,412,031 probably null Het
Slc39a10 A G 1: 46,836,085 F19S possibly damaging Het
Sos1 A G 17: 80,453,916 V117A probably damaging Het
Spta1 C A 1: 174,184,706 N359K probably benign Het
Sspo G A 6: 48,466,870 probably null Het
Stx5a T A 19: 8,742,311 D13E probably damaging Het
Supt16 G A 14: 52,176,655 A489V probably damaging Het
Tap1 T A 17: 34,189,546 L253Q probably benign Het
Tmc6 A G 11: 117,769,436 S659P probably damaging Het
Tnfsf14 T C 17: 57,193,876 D65G probably benign Het
Ttc28 G A 5: 111,225,677 S962N probably damaging Het
Ugt8a T C 3: 125,875,558 Y299C probably damaging Het
Upk1a A G 7: 30,609,720 V59A possibly damaging Het
Usp38 T C 8: 80,984,803 T868A probably benign Het
Wdsub1 G A 2: 59,876,715 H58Y probably damaging Het
Zc3h7b T C 15: 81,768,834 S19P possibly damaging Het
Zfp385b A C 2: 77,415,913 F257V probably benign Het
Zmym4 A C 4: 126,911,147 I188S 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
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
R7949:Ap3m2 UTSW 8 22799658 missense probably benign 0.02
Z1177:Ap3m2 UTSW 8 22791321 missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- atgcctataatcccagcacc -3'
Posted On2014-04-24