Incidental Mutation 'R8271:Ap2a2'
ID 637723
Institutional Source Beutler Lab
Gene Symbol Ap2a2
Ensembl Gene ENSMUSG00000002957
Gene Name adaptor-related protein complex 2, alpha 2 subunit
Synonyms Adtab, 2410074K14Rik, L25, alpha-C adaptin, alpha-adaptin C
MMRRC Submission 067652-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R8271 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 141142093-141212924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141200812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 553 (E553V)
Ref Sequence ENSEMBL: ENSMUSP00000003038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003038]
AlphaFold P17427
PDB Structure ALPHA-ADAPTIN APPENDAGE DOMAIN, FROM CLATHRIN ADAPTOR AP2 [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPSIN DPW PEPTIDE [X-RAY DIFFRACTION]
THE AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH AMPHIPHYSIN FXDXF [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPSIN DPW PEPTIDE [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ALPHA-ADAPTIN APPENDAGE DOMAIN, FROM THE AP2 ADAPTOR COMPLEX, BOUND TO 2 PEPTIDES FROM SYNAPTOJANIN170 [X-RAY DIFFRACTION]
AP2 CLATHRIN ADAPTOR CORE with Dileucine peptide RM(phosphoS)QIKRLLSE [X-RAY DIFFRACTION]
>> 3 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000003038
AA Change: E553V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
AA Change: E553V

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 590 1.7e-147 PFAM
low complexity region 646 659 N/A INTRINSIC
low complexity region 661 684 N/A INTRINSIC
Alpha_adaptinC2 706 819 1.45e-26 SMART
Pfam:Alpha_adaptin_C 825 933 2.8e-47 PFAM
Meta Mutation Damage Score 0.4808 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,736,212 (GRCm39) I202L probably benign Het
Acadsb A T 7: 131,045,423 (GRCm39) T452S unknown Het
Ago2 A T 15: 72,991,315 (GRCm39) L541Q probably damaging Het
Astn2 T C 4: 65,910,663 (GRCm39) K442E unknown Het
Bicd1 A G 6: 149,414,633 (GRCm39) T449A probably benign Het
Btn1a1 T A 13: 23,645,919 (GRCm39) Q150L probably benign Het
C1ra G A 6: 124,499,610 (GRCm39) G599R probably damaging Het
Camta2 T A 11: 70,561,886 (GRCm39) Q1076L probably benign Het
Capza2 T A 6: 17,657,214 (GRCm39) C157S probably damaging Het
Ccnk A G 12: 108,162,114 (GRCm39) probably benign Het
Chd3 T A 11: 69,251,483 (GRCm39) D516V probably damaging Het
Cntnap5b A G 1: 99,999,832 (GRCm39) T197A probably benign Het
Comp A G 8: 70,829,110 (GRCm39) N260S probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Ddx60 T A 8: 62,393,142 (GRCm39) probably null Het
Defb22 C T 2: 152,327,712 (GRCm39) V158I unknown Het
Diaph3 T C 14: 87,103,949 (GRCm39) S812G probably damaging Het
Dohh G T 10: 81,221,844 (GRCm39) Q79H probably benign Het
Dyrk1b T G 7: 27,882,080 (GRCm39) V147G probably benign Het
Fastkd2 C T 1: 63,787,183 (GRCm39) T539I probably benign Het
Itpr3 G A 17: 27,306,622 (GRCm39) D229N probably damaging Het
Kcnv1 A T 15: 44,972,754 (GRCm39) D376E probably benign Het
Kif13a C A 13: 46,906,057 (GRCm39) V1577F probably benign Het
L3mbtl4 G A 17: 68,793,938 (GRCm39) R314H probably damaging Het
Mcoln2 A C 3: 145,898,179 (GRCm39) N100T unknown Het
Mdh1b C T 1: 63,759,164 (GRCm39) V143M possibly damaging Het
Mfsd4b4 G T 10: 39,768,101 (GRCm39) Q377K probably benign Het
Mpv17l T C 16: 13,762,584 (GRCm39) F122S probably damaging Het
Mylk T C 16: 34,742,949 (GRCm39) S1154P probably damaging Het
Myo5b A G 18: 74,760,261 (GRCm39) Y259C probably damaging Het
Nek1 G A 8: 61,558,646 (GRCm39) V931M probably benign Het
Nkd2 C A 13: 73,969,437 (GRCm39) G343V probably damaging Het
Obox8 T A 7: 14,065,928 (GRCm39) T197S probably benign Het
Or10j5 T A 1: 172,784,744 (GRCm39) C127* probably null Het
Or13g1 G A 7: 85,955,962 (GRCm39) R120C probably benign Het
Or4b1b A G 2: 90,112,616 (GRCm39) F101S possibly damaging Het
Or5m11b T G 2: 85,806,085 (GRCm39) M166R probably benign Het
Or5m11b T C 2: 85,805,766 (GRCm39) Y60H probably damaging Het
Or5p57 A G 7: 107,664,980 (GRCm39) S342P probably damaging Het
Or5t7 T A 2: 86,507,218 (GRCm39) H153L probably benign Het
Palb2 A T 7: 121,724,097 (GRCm39) S551T probably damaging Het
Pcdha12 T A 18: 37,154,953 (GRCm39) D557E probably damaging Het
Pcdhb21 T A 18: 37,648,921 (GRCm39) D683E probably benign Het
Plekhb1 A G 7: 100,305,936 (GRCm39) probably benign Het
Plekhg5 A G 4: 152,187,464 (GRCm39) N90D probably damaging Het
Pnpla1 A G 17: 29,100,579 (GRCm39) D482G probably benign Het
Rc3h1 A T 1: 160,768,329 (GRCm39) probably benign Het
Rfpl4 C T 7: 5,113,539 (GRCm39) R214H probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Setd5 T C 6: 113,092,031 (GRCm39) I284T possibly damaging Het
Smurf1 C T 5: 144,830,897 (GRCm39) E293K possibly damaging Het
Tas2r106 A T 6: 131,655,023 (GRCm39) I276N probably damaging Het
Tbc1d2 C A 4: 46,649,791 (GRCm39) A82S possibly damaging Het
Tex19.2 A G 11: 121,008,010 (GRCm39) I146T possibly damaging Het
Tmem107 T G 11: 68,962,281 (GRCm39) N79K probably damaging Het
Tpsab1 A T 17: 25,564,305 (GRCm39) S50T probably benign Het
Ttn T A 2: 76,553,594 (GRCm39) K31008* probably null Het
Ubox5 T C 2: 130,441,629 (GRCm39) T353A probably benign Het
Usp24 T A 4: 106,285,711 (GRCm39) H2445Q probably damaging Het
Uvrag T C 7: 98,537,698 (GRCm39) D499G probably benign Het
Xndc1 A T 7: 101,728,343 (GRCm39) N247I possibly damaging Het
Yipf2 A T 9: 21,501,291 (GRCm39) W226R probably damaging Het
Zfp335 T A 2: 164,739,973 (GRCm39) Q793L probably damaging Het
Zfp385c A G 11: 100,548,291 (GRCm39) S54P probably damaging Het
Zpld2 G T 4: 133,930,278 (GRCm39) T9K unknown Het
Other mutations in Ap2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Ap2a2 APN 7 141,184,932 (GRCm39) splice site probably benign
IGL02664:Ap2a2 APN 7 141,209,136 (GRCm39) missense probably benign 0.00
IGL02973:Ap2a2 APN 7 141,211,277 (GRCm39) missense possibly damaging 0.63
IGL03366:Ap2a2 APN 7 141,209,186 (GRCm39) missense probably benign
R0345:Ap2a2 UTSW 7 141,211,206 (GRCm39) missense probably damaging 1.00
R2212:Ap2a2 UTSW 7 141,178,689 (GRCm39) missense probably benign 0.05
R2904:Ap2a2 UTSW 7 141,199,391 (GRCm39) missense probably damaging 0.98
R3412:Ap2a2 UTSW 7 141,178,689 (GRCm39) missense probably benign 0.05
R3413:Ap2a2 UTSW 7 141,178,689 (GRCm39) missense probably benign 0.05
R4962:Ap2a2 UTSW 7 141,210,061 (GRCm39) missense probably damaging 1.00
R5602:Ap2a2 UTSW 7 141,184,855 (GRCm39) missense probably benign
R5910:Ap2a2 UTSW 7 141,178,691 (GRCm39) missense probably damaging 1.00
R6488:Ap2a2 UTSW 7 141,182,220 (GRCm39) missense probably benign 0.02
R7003:Ap2a2 UTSW 7 141,209,109 (GRCm39) missense probably benign
R7132:Ap2a2 UTSW 7 141,199,478 (GRCm39) missense probably benign 0.32
R7140:Ap2a2 UTSW 7 141,178,777 (GRCm39) missense probably benign 0.30
R7227:Ap2a2 UTSW 7 141,200,784 (GRCm39) missense probably damaging 1.00
R7412:Ap2a2 UTSW 7 141,206,049 (GRCm39) missense probably damaging 0.97
R7482:Ap2a2 UTSW 7 141,182,210 (GRCm39) missense possibly damaging 0.46
R7632:Ap2a2 UTSW 7 141,211,236 (GRCm39) missense probably benign 0.00
R7991:Ap2a2 UTSW 7 141,189,760 (GRCm39) missense probably damaging 1.00
R8124:Ap2a2 UTSW 7 141,178,757 (GRCm39) missense probably benign 0.05
R8308:Ap2a2 UTSW 7 141,210,212 (GRCm39) missense probably benign
R8462:Ap2a2 UTSW 7 141,210,394 (GRCm39) missense probably damaging 0.97
R8971:Ap2a2 UTSW 7 141,191,258 (GRCm39) missense probably benign 0.00
R9368:Ap2a2 UTSW 7 141,207,815 (GRCm39) missense probably benign 0.10
R9502:Ap2a2 UTSW 7 141,178,689 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGGCATTGTGTCCTCCTCAAG -3'
(R):5'- TTGGTGTGACATCCTGACAC -3'

Sequencing Primer
(F):5'- TCCCCATGAGAGGTGCAG -3'
(R):5'- TGTGACATCCTGACACCCAGC -3'
Posted On 2020-07-28