Incidental Mutation 'R5602:Ap2a2'
ID 439082
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 043154-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 141142093-141212924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141184855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 213 (T213S)
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 benign
Transcript: ENSMUST00000003038
AA Change: T213S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
AA Change: T213S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201320
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Safb2 C A 17: 56,882,630 (GRCm39) K334N possibly damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V possibly damaging 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
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
R8271:Ap2a2 UTSW 7 141,200,812 (GRCm39) missense probably damaging 1.00
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'- CCACGCTGGACTAGATTTCC -3'
(R):5'- TTTACAGTGTGGGCAACATATCC -3'

Sequencing Primer
(F):5'- TTCCAGTTTCCAGAGAGAAGCTAGC -3'
(R):5'- GGGCAACATATCCTGCTTCTAAATG -3'
Posted On 2016-10-26