Incidental Mutation 'R5635:Ap2a1'
ID 448655
Institutional Source Beutler Lab
Gene Symbol Ap2a1
Ensembl Gene ENSMUSG00000060279
Gene Name adaptor-related protein complex 2, alpha 1 subunit
Synonyms Adtaa
MMRRC Submission 043286-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R5635 (G1)
Quality Score 109
Status Validated
Chromosome 7
Chromosomal Location 44549797-44578914 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 44573325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000208405]
AlphaFold P17426
Predicted Effect probably benign
Transcript: ENSMUST00000085399
SMART Domains Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279

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
SMART Domains Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279

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
SMART Domains Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279

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
SMART Domains Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279

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 unknown
Transcript: ENSMUST00000168862
AA Change: S28A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207554
Predicted Effect unknown
Transcript: ENSMUST00000208405
AA Change: S28A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208813
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (90/91)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,094,273 (GRCm39) M53K possibly damaging Het
Aldh3b3 C T 19: 4,018,512 (GRCm39) T409I probably benign Het
Ankrd13a C A 5: 114,939,778 (GRCm39) H468Q possibly damaging Het
Arfgef1 A T 1: 10,259,085 (GRCm39) S671T possibly damaging Het
C1ra G A 6: 124,493,683 (GRCm39) C145Y probably damaging Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Ccdc30 T C 4: 119,216,871 (GRCm39) N123D possibly damaging Het
Cdc20 A T 4: 118,293,224 (GRCm39) V232E possibly damaging Het
Cfap251 A T 5: 123,460,635 (GRCm39) Q225L probably benign Het
Cfap58 T A 19: 47,971,981 (GRCm39) V637E possibly damaging Het
Coq4 T A 2: 29,678,367 (GRCm39) V24E possibly damaging Het
Crim1 T A 17: 78,623,070 (GRCm39) F423I probably damaging Het
Crls1 T C 2: 132,706,062 (GRCm39) V262A possibly damaging Het
Crybb1 T C 5: 112,405,425 (GRCm39) probably null Het
Cutc T A 19: 43,744,069 (GRCm39) N23K probably benign Het
Cxcl10 T A 5: 92,495,698 (GRCm39) I82F probably damaging Het
Cyp3a44 A T 5: 145,738,124 (GRCm39) F60L possibly damaging Het
Dhx9 A G 1: 153,359,493 (GRCm39) M35T probably benign Het
Dnah8 A G 17: 30,925,360 (GRCm39) E1265G probably benign Het
Dzank1 C G 2: 144,325,327 (GRCm39) D548H probably damaging Het
Eef2kmt A G 16: 5,066,893 (GRCm39) V120A probably damaging Het
Elp4 A G 2: 105,644,609 (GRCm39) probably null Het
Etl4 A T 2: 20,811,846 (GRCm39) I1310F probably damaging Het
Exoc6b A T 6: 84,828,909 (GRCm39) F492I probably damaging Het
F2rl2 A T 13: 95,837,290 (GRCm39) I112F possibly damaging Het
Farp1 T A 14: 121,513,716 (GRCm39) I837N possibly damaging Het
Fars2 A G 13: 36,594,129 (GRCm39) E378G probably damaging Het
Fgg A G 3: 82,918,730 (GRCm39) T248A probably benign Het
Flrt3 T A 2: 140,502,420 (GRCm39) T403S probably damaging Het
Fndc3b C T 3: 27,596,080 (GRCm39) E170K probably damaging Het
Gm17728 A G 17: 9,641,202 (GRCm39) H104R probably benign Het
H2ac21 C A 3: 96,127,593 (GRCm39) T121K possibly damaging Het
Hivep1 A G 13: 42,313,603 (GRCm39) T1948A probably benign Het
Hspa4l T A 3: 40,700,177 (GRCm39) I23N probably damaging Het
Ighv1-75 A G 12: 115,797,829 (GRCm39) V31A probably benign Het
Kalrn T A 16: 33,834,454 (GRCm39) N627I probably damaging Het
Lrp1b T G 2: 42,542,834 (GRCm39) probably benign Het
Lrrc36 G A 8: 106,184,205 (GRCm39) V480M probably damaging Het
Map4k3 A T 17: 80,920,924 (GRCm39) N534K possibly damaging Het
Mybpc3 C T 2: 90,965,174 (GRCm39) T1081I probably benign Het
Nfrkb T C 9: 31,310,594 (GRCm39) S351P probably damaging Het
Nme4 A T 17: 26,313,205 (GRCm39) V43E probably damaging Het
Notch1 C T 2: 26,366,173 (GRCm39) E794K probably damaging Het
Nufip1 A T 14: 76,363,586 (GRCm39) K270M probably damaging Het
Or10ak16 G T 4: 118,750,832 (GRCm39) G184V probably benign Het
Or1e30 G T 11: 73,678,460 (GRCm39) R232L probably benign Het
Or51b6 G A 7: 103,555,845 (GRCm39) M66I probably benign Het
Or5t5 A G 2: 86,616,070 (GRCm39) probably null Het
Or8g51 A G 9: 38,609,455 (GRCm39) I73T possibly damaging Het
Pcdhb15 T A 18: 37,606,823 (GRCm39) Y18* probably null Het
Pcdhb21 A T 18: 37,646,970 (GRCm39) Y33F probably benign Het
Pds5b T A 5: 150,701,686 (GRCm39) H772Q possibly damaging Het
Pik3r4 C A 9: 105,545,024 (GRCm39) H168N probably benign Het
Pitpnm3 A G 11: 71,957,986 (GRCm39) S386P possibly damaging Het
Plg A G 17: 12,614,641 (GRCm39) H307R probably damaging Het
Prdm9 A C 17: 15,782,702 (GRCm39) D96E probably damaging Het
Prmt8 A G 6: 127,745,692 (GRCm39) S7P probably damaging Het
Prune2 T C 19: 17,095,573 (GRCm39) V359A probably benign Het
Pxn A T 5: 115,689,551 (GRCm39) Q279L probably benign Het
Rarb A T 14: 16,443,788 (GRCm38) C167S probably damaging Het
Rps6kb2 T A 19: 4,211,133 (GRCm39) I131F probably damaging Het
Sec14l3 T A 11: 4,021,484 (GRCm39) V219E probably damaging Het
Simc1 A G 13: 54,673,217 (GRCm39) T522A probably benign Het
Slc1a6 T C 10: 78,624,925 (GRCm39) V110A possibly damaging Het
Slc38a11 T G 2: 65,191,747 (GRCm39) probably null Het
Snx13 T A 12: 35,190,170 (GRCm39) D840E probably benign Het
Sp100 C A 1: 85,609,985 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,686 (GRCm39) L104I probably damaging Het
Surf4 T C 2: 26,823,325 (GRCm39) N4D probably benign Het
Tas2r131 A T 6: 132,934,571 (GRCm39) D79E probably benign Het
Tbc1d20 T C 2: 152,153,381 (GRCm39) S304P probably benign Het
Tbrg1 T C 9: 37,566,287 (GRCm39) probably benign Het
Tmem214 A G 5: 31,028,861 (GRCm39) N150S probably damaging Het
Trappc13 A T 13: 104,286,606 (GRCm39) I217K probably benign Het
Ttc41 T A 10: 86,572,841 (GRCm39) C738S probably benign Het
Ttn T C 2: 76,540,068 (GRCm39) Q25979R probably benign Het
Tubb2b A T 13: 34,312,180 (GRCm39) N204K probably damaging Het
Ube3a T A 7: 58,938,236 (GRCm39) M713K probably damaging Het
Usp37 T C 1: 74,534,970 (GRCm39) probably benign Het
Vegfb T A 19: 6,960,214 (GRCm39) *189C probably null Het
Vmn2r82 A G 10: 79,214,652 (GRCm39) N212D probably benign Het
Vta1 A T 10: 14,543,866 (GRCm39) probably null Het
Xdh T G 17: 74,220,870 (GRCm39) I620L possibly damaging Het
Xpnpep3 A G 15: 81,320,970 (GRCm39) Y283C probably benign Het
Zscan18 A G 7: 12,504,791 (GRCm39) S609P probably benign 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
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
R6491:Ap2a1 UTSW 7 44,565,588 (GRCm39) missense probably damaging 1.00
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'- AGGATGCCTATGGAGTATTTAGAAC -3'
(R):5'- CTGCTCTCTCCAGCCCAAAG -3'

Sequencing Primer
(F):5'- GCCTATGGAGTATTTAGAACTGAGTG -3'
(R):5'- GGGCATCAGATCTCATTACGG -3'
Posted On 2016-12-15