Incidental Mutation 'IGL03172:Ap2a1'
ID411880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap2a1
Ensembl Gene ENSMUSG00000060279
Gene Nameadaptor-related protein complex 2, alpha 1 subunit
SynonymsAdtaa
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.454) question?
Stock #IGL03172
Quality Score
Status
Chromosome7
Chromosomal Location44900373-44929496 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 44904055 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 629 (D629E)
Ref Sequence ENSEMBL: ENSMUSP00000127497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071207] [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000207485] [ENSMUST00000208179] [ENSMUST00000209039] [ENSMUST00000208600]
Predicted Effect probably benign
Transcript: ENSMUST00000071207
SMART Domains Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658

DomainStartEndE-ValueType
low complexity region 234 259 N/A INTRINSIC
low complexity region 292 310 N/A INTRINSIC
low complexity region 382 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085399
AA Change: D629E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: D629E

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 7.5e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 699 741 N/A INTRINSIC
Alpha_adaptinC2 745 858 4.49e-23 SMART
Pfam:Alpha_adaptin_C 864 972 9.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107857
AA Change: D629E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: D629E

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 7e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Alpha_adaptinC2 723 836 4.49e-23 SMART
Pfam:Alpha_adaptin_C 842 950 9.1e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166972
AA Change: D629E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: D629E

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 2e-149 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 699 741 N/A INTRINSIC
Alpha_adaptinC2 745 858 4.49e-23 SMART
Pfam:Alpha_adaptin_C 864 972 5.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167930
AA Change: D629E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: D629E

DomainStartEndE-ValueType
Pfam:Adaptin_N 29 591 7e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 665 675 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Alpha_adaptinC2 723 836 4.49e-23 SMART
Pfam:Alpha_adaptin_C 842 950 9.1e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207480
Predicted Effect probably benign
Transcript: ENSMUST00000207485
Predicted Effect probably benign
Transcript: ENSMUST00000207814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207833
Predicted Effect probably benign
Transcript: ENSMUST00000208179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209067
Predicted Effect probably benign
Transcript: ENSMUST00000209039
Predicted Effect probably benign
Transcript: ENSMUST00000208600
Predicted Effect probably benign
Transcript: ENSMUST00000208472
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Ap2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Ap2a1 APN 7 44905768 missense probably damaging 1.00
IGL01315:Ap2a1 APN 7 44916289 missense possibly damaging 0.47
IGL01324:Ap2a1 APN 7 44905696 missense probably damaging 1.00
IGL02545:Ap2a1 APN 7 44906426 missense probably damaging 1.00
IGL03067:Ap2a1 APN 7 44903511 missense probably benign
disaffected UTSW 7 44916164 missense probably damaging 1.00
R0233:Ap2a1 UTSW 7 44915973 missense probably damaging 1.00
R0233:Ap2a1 UTSW 7 44915973 missense probably damaging 1.00
R0546:Ap2a1 UTSW 7 44904708 missense probably damaging 0.97
R1103:Ap2a1 UTSW 7 44904169 unclassified probably benign
R1566:Ap2a1 UTSW 7 44903480 missense probably benign 0.02
R1682:Ap2a1 UTSW 7 44915938 missense probably benign 0.14
R1745:Ap2a1 UTSW 7 44906945 missense probably damaging 1.00
R1777:Ap2a1 UTSW 7 44904152 missense probably damaging 1.00
R4627:Ap2a1 UTSW 7 44904419 missense probably damaging 1.00
R4669:Ap2a1 UTSW 7 44902919 unclassified probably benign
R4776:Ap2a1 UTSW 7 44901546 unclassified probably benign
R4909:Ap2a1 UTSW 7 44906381 missense probably damaging 1.00
R5040:Ap2a1 UTSW 7 44905804 missense possibly damaging 0.78
R5278:Ap2a1 UTSW 7 44902779 missense probably benign 0.00
R5310:Ap2a1 UTSW 7 44906065 splice site probably null
R5517:Ap2a1 UTSW 7 44906981 missense possibly damaging 0.93
R5635:Ap2a1 UTSW 7 44923901 intron probably benign
R6002:Ap2a1 UTSW 7 44904395 splice site probably null
R6083:Ap2a1 UTSW 7 44907751 missense probably damaging 1.00
R6185:Ap2a1 UTSW 7 44916170 missense probably damaging 1.00
R6430:Ap2a1 UTSW 7 44903829 missense probably benign
R6491:Ap2a1 UTSW 7 44916164 missense probably damaging 1.00
R7058:Ap2a1 UTSW 7 44900791 missense probably damaging 1.00
R7180:Ap2a1 UTSW 7 44923804 splice site probably null
R7490:Ap2a1 UTSW 7 44902789 missense probably benign 0.03
R7765:Ap2a1 UTSW 7 44909736 missense probably damaging 1.00
R7831:Ap2a1 UTSW 7 44901012 missense probably damaging 1.00
R8237:Ap2a1 UTSW 7 44900796 missense probably damaging 1.00
R8334:Ap2a1 UTSW 7 44904711 missense possibly damaging 0.95
Posted On2016-08-02