Incidental Mutation 'R7831:Ap2a1'
ID 605621
Institutional Source Beutler Lab
Gene Symbol Ap2a1
Ensembl Gene ENSMUSG00000060279
Gene Name adaptor-related protein complex 2, alpha 1 subunit
Synonyms Adtaa
MMRRC Submission 045885-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # R7831 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44549797-44578914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44550436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 944 (R944L)
Ref Sequence ENSEMBL: ENSMUSP00000127842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071207] [ENSMUST00000085399] [ENSMUST00000107857] [ENSMUST00000166972] [ENSMUST00000167930] [ENSMUST00000207069] [ENSMUST00000207154] [ENSMUST00000207485] [ENSMUST00000207939] [ENSMUST00000208179] [ENSMUST00000208600] [ENSMUST00000209039] [ENSMUST00000209132] [ENSMUST00000209163]
AlphaFold P17426
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 damaging
Transcript: ENSMUST00000085399
AA Change: R944L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: R944L

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: R922L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: R922L

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: R944L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: R944L

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: R922L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: R922L

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: ENSMUST00000207069
Predicted Effect probably benign
Transcript: ENSMUST00000207154
Predicted Effect probably benign
Transcript: ENSMUST00000207485
Predicted Effect probably benign
Transcript: ENSMUST00000207939
Predicted Effect probably benign
Transcript: ENSMUST00000208179
Predicted Effect probably damaging
Transcript: ENSMUST00000208472
AA Change: R310L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208600
Predicted Effect probably benign
Transcript: ENSMUST00000208908
Predicted Effect probably benign
Transcript: ENSMUST00000209039
Predicted Effect probably benign
Transcript: ENSMUST00000209132
Predicted Effect probably benign
Transcript: ENSMUST00000209163
Meta Mutation Damage Score 0.8357 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
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
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Card11 G T 5: 140,859,167 (GRCm39) S1126R possibly damaging Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Col6a3 A T 1: 90,724,268 (GRCm39) C2027* probably null Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Crocc2 G T 1: 93,143,195 (GRCm39) A1266S probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Dnai1 T C 4: 41,614,695 (GRCm39) probably null Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Ermp1 T C 19: 29,595,367 (GRCm39) T634A probably benign Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fgf8 G A 19: 45,730,876 (GRCm39) P50S probably benign Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q 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
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
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
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'- CAGGGTTAGACGGTACATCTGTG -3'
(R):5'- TCTCACCCCTGAGAGTTTAGC -3'

Sequencing Primer
(F):5'- CGGTACATCTGTGTGGAAAGGC -3'
(R):5'- CCCTGAGAGTTTAGCCTGCAGTAG -3'
Posted On 2019-12-20