Incidental Mutation 'R6491:Ap2a1'
ID 522875
Institutional Source Beutler Lab
Gene Symbol Ap2a1
Ensembl Gene ENSMUSG00000060279
Gene Name adaptor-related protein complex 2, alpha 1 subunit
Synonyms Adtaa
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44549797-44578914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44565588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 93 (I93K)
Ref Sequence ENSEMBL: ENSMUSP00000127497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000208405]
AlphaFold P17426
Predicted Effect probably damaging
Transcript: ENSMUST00000085399
AA Change: I93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: I93K

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 damaging
Transcript: ENSMUST00000107857
AA Change: I93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: I93K

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 damaging
Transcript: ENSMUST00000166972
AA Change: I93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: I93K

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 damaging
Transcript: ENSMUST00000167930
AA Change: I93K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: I93K

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: ENSMUST00000207554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208813
Predicted Effect probably benign
Transcript: ENSMUST00000208405
Meta Mutation Damage Score 0.9511 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Arnt T A 3: 95,383,454 (GRCm39) M240K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Mtdh T G 15: 34,116,473 (GRCm39) N17K probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Or8b46 A G 9: 38,558,751 (GRCm39) L23P probably damaging Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 A G 4: 100,267,109 (GRCm39) N270S possibly damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Tjp1 A T 7: 64,986,865 (GRCm39) F207I possibly damaging Het
Trappc3 A G 4: 126,169,022 (GRCm39) I171V probably benign Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null Het
Other mutations in Ap2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Ap2a1 APN 7 44,555,192 (GRCm39) missense probably damaging 1.00
IGL01315:Ap2a1 APN 7 44,565,713 (GRCm39) missense possibly damaging 0.47
IGL01324:Ap2a1 APN 7 44,555,120 (GRCm39) missense probably damaging 1.00
IGL02545:Ap2a1 APN 7 44,555,850 (GRCm39) missense probably damaging 1.00
IGL03067:Ap2a1 APN 7 44,552,935 (GRCm39) missense probably benign
IGL03172:Ap2a1 APN 7 44,553,479 (GRCm39) missense probably benign 0.00
disaffected UTSW 7 44,565,588 (GRCm39) missense probably damaging 1.00
R0233:Ap2a1 UTSW 7 44,565,397 (GRCm39) missense probably damaging 1.00
R0233:Ap2a1 UTSW 7 44,565,397 (GRCm39) missense probably damaging 1.00
R0546:Ap2a1 UTSW 7 44,554,132 (GRCm39) missense probably damaging 0.97
R1103:Ap2a1 UTSW 7 44,553,593 (GRCm39) unclassified probably benign
R1566:Ap2a1 UTSW 7 44,552,904 (GRCm39) missense probably benign 0.02
R1682:Ap2a1 UTSW 7 44,565,362 (GRCm39) missense probably benign 0.14
R1745:Ap2a1 UTSW 7 44,556,369 (GRCm39) missense probably damaging 1.00
R1777:Ap2a1 UTSW 7 44,553,576 (GRCm39) missense probably damaging 1.00
R4627:Ap2a1 UTSW 7 44,553,843 (GRCm39) missense probably damaging 1.00
R4669:Ap2a1 UTSW 7 44,552,343 (GRCm39) unclassified probably benign
R4776:Ap2a1 UTSW 7 44,550,970 (GRCm39) unclassified probably benign
R4909:Ap2a1 UTSW 7 44,555,805 (GRCm39) missense probably damaging 1.00
R5040:Ap2a1 UTSW 7 44,555,228 (GRCm39) missense possibly damaging 0.78
R5278:Ap2a1 UTSW 7 44,552,203 (GRCm39) missense probably benign 0.00
R5310:Ap2a1 UTSW 7 44,555,489 (GRCm39) splice site probably null
R5517:Ap2a1 UTSW 7 44,556,405 (GRCm39) missense possibly damaging 0.93
R5635:Ap2a1 UTSW 7 44,573,325 (GRCm39) intron probably benign
R6002:Ap2a1 UTSW 7 44,553,819 (GRCm39) splice site probably null
R6083:Ap2a1 UTSW 7 44,557,175 (GRCm39) missense probably damaging 1.00
R6185:Ap2a1 UTSW 7 44,565,594 (GRCm39) missense probably damaging 1.00
R6430:Ap2a1 UTSW 7 44,553,253 (GRCm39) missense probably benign
R7058:Ap2a1 UTSW 7 44,550,215 (GRCm39) missense probably damaging 1.00
R7180:Ap2a1 UTSW 7 44,573,228 (GRCm39) splice site probably null
R7490:Ap2a1 UTSW 7 44,552,213 (GRCm39) missense probably benign 0.03
R7765:Ap2a1 UTSW 7 44,559,160 (GRCm39) missense probably damaging 1.00
R7831:Ap2a1 UTSW 7 44,550,436 (GRCm39) missense probably damaging 1.00
R8237:Ap2a1 UTSW 7 44,550,220 (GRCm39) missense probably damaging 1.00
R8334:Ap2a1 UTSW 7 44,554,135 (GRCm39) missense possibly damaging 0.95
R8540:Ap2a1 UTSW 7 44,553,750 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCAGGTCATTCTTGATAGCG -3'
(R):5'- TTAGGGGACGCTTCCTTACTTG -3'

Sequencing Primer
(F):5'- AGCCGGATCAGTTCTGAGTTC -3'
(R):5'- GACGCTTCCTTACTTGGCTCC -3'
Posted On 2018-06-06