Incidental Mutation 'R7003:Ap2a2'
ID 544668
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 045108-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.476) question?
Stock # R7003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 141142093-141212924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141209109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 767 (N767S)
Ref Sequence ENSEMBL: ENSMUSP00000003038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003038] [ENSMUST00000062451] [ENSMUST00000189314] [ENSMUST00000190907]
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: N767S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
AA Change: N767S

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 probably benign
Transcript: ENSMUST00000062451
SMART Domains Protein: ENSMUSP00000049941
Gene: ENSMUSG00000048191

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWD 29 234 2.49e-14 SMART
C8 267 340 5.46e-3 SMART
Pfam:TIL 344 399 5.6e-14 PFAM
VWC 401 469 2.57e-7 SMART
VWD 428 591 4.81e-30 SMART
C8 627 703 8.84e-21 SMART
SCOP:d1coua_ 706 769 7e-9 SMART
Pfam:TIL 806 869 1.9e-9 PFAM
VWC 871 941 8.52e-3 SMART
VWD 898 1060 1.59e-30 SMART
C8 1096 1170 5.52e-31 SMART
Blast:CT 1184 1236 2e-19 BLAST
low complexity region 1240 1269 N/A INTRINSIC
low complexity region 1275 1293 N/A INTRINSIC
low complexity region 1313 1337 N/A INTRINSIC
low complexity region 1345 1374 N/A INTRINSIC
internal_repeat_3 1375 1560 6.78e-17 PROSPERO
internal_repeat_2 1426 1751 8.94e-34 PROSPERO
low complexity region 1761 1780 N/A INTRINSIC
low complexity region 1867 1887 N/A INTRINSIC
low complexity region 1896 1910 N/A INTRINSIC
low complexity region 1912 1946 N/A INTRINSIC
low complexity region 1990 2004 N/A INTRINSIC
low complexity region 2010 2020 N/A INTRINSIC
internal_repeat_2 2036 2430 8.94e-34 PROSPERO
internal_repeat_3 2329 2516 6.78e-17 PROSPERO
low complexity region 2519 2536 N/A INTRINSIC
low complexity region 2564 2587 N/A INTRINSIC
low complexity region 2605 2630 N/A INTRINSIC
low complexity region 2642 2677 N/A INTRINSIC
low complexity region 2729 2762 N/A INTRINSIC
Blast:CT 2765 2852 1e-44 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000189314
SMART Domains Protein: ENSMUSP00000140388
Gene: ENSMUSG00000048191

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWD 29 193 2.64e-27 SMART
C8 226 299 5.46e-3 SMART
Pfam:TIL 303 358 1.4e-13 PFAM
VWC 360 428 2.57e-7 SMART
VWD 387 550 4.81e-30 SMART
C8 586 662 8.84e-21 SMART
internal_repeat_2 665 754 5.76e-7 PROSPERO
Pfam:TIL 765 828 6.4e-9 PFAM
VWC 830 900 8.52e-3 SMART
VWD 857 1019 1.59e-30 SMART
C8 1055 1129 5.52e-31 SMART
low complexity region 1199 1228 N/A INTRINSIC
low complexity region 1234 1252 N/A INTRINSIC
low complexity region 1272 1296 N/A INTRINSIC
low complexity region 1304 1333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190907
SMART Domains Protein: ENSMUSP00000140483
Gene: ENSMUSG00000048191

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWD 29 234 1.2e-16 SMART
C8 267 340 4.2e-7 SMART
Pfam:TIL 344 399 7.2e-11 PFAM
VWC_def 401 469 1.2e-9 SMART
VWD 428 591 2.4e-32 SMART
C8 627 703 6.7e-25 SMART
SCOP:d1coua_ 706 769 5e-9 SMART
Pfam:TIL 806 869 3.3e-6 PFAM
VWC_def 871 941 4.1e-5 SMART
VWD 898 1060 7.7e-33 SMART
C8 1096 1170 4.2e-35 SMART
Blast:CT 1184 1236 2e-19 BLAST
low complexity region 1240 1269 N/A INTRINSIC
low complexity region 1275 1293 N/A INTRINSIC
low complexity region 1313 1337 N/A INTRINSIC
low complexity region 1345 1374 N/A INTRINSIC
low complexity region 1406 1419 N/A INTRINSIC
internal_repeat_1 1426 1822 3.44e-48 PROSPERO
low complexity region 1826 1845 N/A INTRINSIC
low complexity region 1932 1952 N/A INTRINSIC
low complexity region 1961 1975 N/A INTRINSIC
low complexity region 1977 2011 N/A INTRINSIC
low complexity region 2055 2069 N/A INTRINSIC
low complexity region 2075 2085 N/A INTRINSIC
internal_repeat_1 2101 2501 3.44e-48 PROSPERO
low complexity region 2504 2524 N/A INTRINSIC
low complexity region 2584 2601 N/A INTRINSIC
low complexity region 2629 2652 N/A INTRINSIC
low complexity region 2670 2695 N/A INTRINSIC
low complexity region 2707 2742 N/A INTRINSIC
low complexity region 2794 2827 N/A INTRINSIC
Blast:CT 2830 2917 1e-44 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,490 (GRCm39) I275N probably damaging Het
Actr3b A C 5: 26,003,461 (GRCm39) Y21S probably damaging Het
Adam6b C T 12: 113,453,662 (GRCm39) Q160* probably null Het
Adgrv1 C T 13: 81,670,223 (GRCm39) probably null Het
Akr1c6 A G 13: 4,504,514 (GRCm39) N300D probably benign Het
Alox8 T C 11: 69,082,416 (GRCm39) D170G possibly damaging Het
Amhr2 A G 15: 102,354,768 (GRCm39) N40S probably benign Het
Armc3 T C 2: 19,274,839 (GRCm39) I358T probably damaging Het
Atg2b A G 12: 105,620,508 (GRCm39) S732P probably benign Het
Atp12a A G 14: 56,610,837 (GRCm39) Y327C possibly damaging Het
Bcr T C 10: 74,897,393 (GRCm39) V179A probably benign Het
Cep104 T C 4: 154,078,018 (GRCm39) L642P probably benign Het
Clspn T A 4: 126,486,513 (GRCm39) S1302R possibly damaging Het
Cmip T C 8: 118,111,727 (GRCm39) F153L probably benign Het
Cplane1 T G 15: 8,258,246 (GRCm39) L2164R probably damaging Het
D630039A03Rik T C 4: 57,910,521 (GRCm39) D97G probably damaging Het
Dok7 A T 5: 35,236,899 (GRCm39) T396S probably benign Het
Dsel C T 1: 111,788,025 (GRCm39) V837I probably benign Het
Etl4 C T 2: 20,810,695 (GRCm39) T926I probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gpr155 A G 2: 73,173,961 (GRCm39) I816T probably damaging Het
Hpn C T 7: 30,810,367 (GRCm39) probably benign Het
Inpp5e A G 2: 26,287,877 (GRCm39) S640P probably benign Het
Irs3 C T 5: 137,643,539 (GRCm39) V82I probably benign Het
Kif16b A C 2: 142,600,749 (GRCm39) D461E possibly damaging Het
Krba1 A G 6: 48,390,014 (GRCm39) T592A possibly damaging Het
Lgsn T A 1: 31,243,024 (GRCm39) S369T possibly damaging Het
Lrrc4b C T 7: 44,094,580 (GRCm39) P83S probably damaging Het
Mplkipl1 A G 19: 61,164,319 (GRCm39) S39P possibly damaging Het
Neil3 T C 8: 54,054,001 (GRCm39) T343A possibly damaging Het
Nt5e A G 9: 88,246,805 (GRCm39) Y347C probably damaging Het
Or1j1 A G 2: 36,703,047 (GRCm39) I19T possibly damaging Het
Or2d3b A T 7: 106,514,319 (GRCm39) T305S probably benign Het
Or2f2 C T 6: 42,767,399 (GRCm39) T142I probably benign Het
Or8g26 A T 9: 39,096,239 (GRCm39) Y255F probably benign Het
P2rx5 T C 11: 73,058,800 (GRCm39) probably null Het
Phtf2 A G 5: 20,999,399 (GRCm39) V248A probably benign Het
Plekhd1 T C 12: 80,768,734 (GRCm39) C406R possibly damaging Het
Plod3 T A 5: 137,018,498 (GRCm39) N245K probably damaging Het
Polr3c G T 3: 96,630,954 (GRCm39) H155Q possibly damaging Het
Psap T A 10: 60,135,276 (GRCm39) C317S probably damaging Het
Rif1 A G 2: 51,967,001 (GRCm39) I97V probably benign Het
Rnf123 T A 9: 107,940,882 (GRCm39) probably null Het
Rnf19a G A 15: 36,254,650 (GRCm39) R303* probably null Het
Sdk1 G A 5: 142,082,489 (GRCm39) V1036I probably benign Het
Shc3 T A 13: 51,620,588 (GRCm39) Y146F probably benign Het
Skint6 A G 4: 112,963,109 (GRCm39) Y441H probably benign Het
Slc7a12 T C 3: 14,570,580 (GRCm39) I173T probably damaging Het
Spesp1 A T 9: 62,189,302 (GRCm39) S15T possibly damaging Het
Tarm1 A T 7: 3,545,939 (GRCm39) probably null Het
Tenm3 T C 8: 48,693,479 (GRCm39) Y1817C probably damaging Het
Ttc9c A T 19: 8,795,904 (GRCm39) L45Q probably damaging Het
Ube3a C T 7: 58,926,188 (GRCm39) T322I probably damaging Het
Vac14 T A 8: 111,439,430 (GRCm39) V669E probably damaging Het
Vmn1r225 A G 17: 20,723,416 (GRCm39) M286V probably null Het
Zfp658 A G 7: 43,224,172 (GRCm39) K816E possibly damaging Het
Zfp846 T C 9: 20,499,188 (GRCm39) M1T probably null 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
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'- AGTGGGACCTGTTGAATAATGG -3'
(R):5'- GGAGTCTAGAATTCCAGGCCTG -3'

Sequencing Primer
(F):5'- ACCTGTTGAATAATGGAAGGGC -3'
(R):5'- AGGCCTGGCACTAACTACTCTG -3'
Posted On 2019-05-13