Incidental Mutation 'R4431:Aak1'
ID 328612
Institutional Source Beutler Lab
Gene Symbol Aak1
Ensembl Gene ENSMUSG00000057230
Gene Name AP2 associated kinase 1
Synonyms D6Ertd245e, 5530400K14Rik
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 86826499-86980205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86963300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 910 (K910R)
Ref Sequence ENSEMBL: ENSMUSP00000086948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519]
AlphaFold Q3UHJ0
Predicted Effect unknown
Transcript: ENSMUST00000003710
AA Change: K829R
SMART Domains Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: K829R

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:Pkinase_Tyr 46 310 1.5e-27 PFAM
Pfam:Pkinase 46 312 7e-43 PFAM
low complexity region 420 489 N/A INTRINSIC
low complexity region 494 527 N/A INTRINSIC
low complexity region 571 588 N/A INTRINSIC
low complexity region 635 647 N/A INTRINSIC
low complexity region 712 730 N/A INTRINSIC
low complexity region 848 861 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000089519
AA Change: K910R
SMART Domains Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: K910R

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:Pkinase_Tyr 46 310 1e-26 PFAM
Pfam:Pkinase 46 312 2.2e-44 PFAM
low complexity region 420 489 N/A INTRINSIC
low complexity region 494 510 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 566 608 N/A INTRINSIC
low complexity region 652 669 N/A INTRINSIC
low complexity region 716 728 N/A INTRINSIC
low complexity region 793 811 N/A INTRINSIC
low complexity region 929 942 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204613
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Aak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Aak1 APN 6 86,923,135 (GRCm39) missense probably damaging 1.00
IGL01284:Aak1 APN 6 86,827,035 (GRCm39) start codon destroyed possibly damaging 0.86
IGL01292:Aak1 APN 6 86,926,520 (GRCm39) splice site probably benign
IGL01344:Aak1 APN 6 86,923,139 (GRCm39) missense possibly damaging 0.49
IGL02317:Aak1 APN 6 86,933,282 (GRCm39) missense possibly damaging 0.61
IGL02422:Aak1 APN 6 86,959,598 (GRCm39) missense unknown
IGL02531:Aak1 APN 6 86,933,429 (GRCm39) missense unknown
IGL02719:Aak1 APN 6 86,936,152 (GRCm39) intron probably benign
IGL03051:Aak1 APN 6 86,964,283 (GRCm39) utr 3 prime probably benign
R0382:Aak1 UTSW 6 86,923,901 (GRCm39) missense probably benign 0.19
R0846:Aak1 UTSW 6 86,936,071 (GRCm39) intron probably benign
R1074:Aak1 UTSW 6 86,912,421 (GRCm39) missense probably damaging 0.97
R1141:Aak1 UTSW 6 86,942,458 (GRCm39) critical splice acceptor site probably null
R1221:Aak1 UTSW 6 86,942,460 (GRCm39) missense unknown
R1261:Aak1 UTSW 6 86,912,470 (GRCm39) missense probably benign 0.09
R1262:Aak1 UTSW 6 86,912,470 (GRCm39) missense probably benign 0.09
R1470:Aak1 UTSW 6 86,944,337 (GRCm39) missense unknown
R1470:Aak1 UTSW 6 86,944,337 (GRCm39) missense unknown
R1931:Aak1 UTSW 6 86,933,318 (GRCm39) missense unknown
R3713:Aak1 UTSW 6 86,932,172 (GRCm39) missense probably benign 0.19
R3785:Aak1 UTSW 6 86,942,560 (GRCm39) missense unknown
R3815:Aak1 UTSW 6 86,936,024 (GRCm39) intron probably benign
R3816:Aak1 UTSW 6 86,936,024 (GRCm39) intron probably benign
R3819:Aak1 UTSW 6 86,936,024 (GRCm39) intron probably benign
R4165:Aak1 UTSW 6 86,827,044 (GRCm39) missense probably damaging 1.00
R4166:Aak1 UTSW 6 86,827,044 (GRCm39) missense probably damaging 1.00
R4351:Aak1 UTSW 6 86,912,519 (GRCm39) splice site probably null
R4430:Aak1 UTSW 6 86,963,348 (GRCm39) missense unknown
R4665:Aak1 UTSW 6 86,902,059 (GRCm39) missense probably null 1.00
R4821:Aak1 UTSW 6 86,827,171 (GRCm39) missense probably damaging 1.00
R5088:Aak1 UTSW 6 86,921,462 (GRCm39) critical splice donor site probably null
R5543:Aak1 UTSW 6 86,959,627 (GRCm39) critical splice donor site probably null
R5567:Aak1 UTSW 6 86,932,150 (GRCm39) nonsense probably null
R5726:Aak1 UTSW 6 86,902,106 (GRCm39) nonsense probably null
R6083:Aak1 UTSW 6 86,940,978 (GRCm39) missense unknown
R6269:Aak1 UTSW 6 86,941,033 (GRCm39) missense unknown
R6693:Aak1 UTSW 6 86,942,497 (GRCm39) missense unknown
R6700:Aak1 UTSW 6 86,941,185 (GRCm39) missense unknown
R6759:Aak1 UTSW 6 86,921,399 (GRCm39) missense probably damaging 1.00
R6969:Aak1 UTSW 6 86,958,317 (GRCm39) missense unknown
R8298:Aak1 UTSW 6 86,902,061 (GRCm39) missense possibly damaging 0.81
R8342:Aak1 UTSW 6 86,963,321 (GRCm39) missense unknown
R8515:Aak1 UTSW 6 86,902,112 (GRCm39) missense possibly damaging 0.48
R8560:Aak1 UTSW 6 86,958,374 (GRCm39) missense unknown
R8943:Aak1 UTSW 6 86,964,234 (GRCm39) missense unknown
R8966:Aak1 UTSW 6 86,964,234 (GRCm39) missense unknown
R9072:Aak1 UTSW 6 86,921,374 (GRCm39) nonsense probably null
R9073:Aak1 UTSW 6 86,921,374 (GRCm39) nonsense probably null
R9254:Aak1 UTSW 6 86,914,049 (GRCm39) missense possibly damaging 0.91
R9439:Aak1 UTSW 6 86,933,274 (GRCm39) missense probably damaging 0.98
R9607:Aak1 UTSW 6 86,914,068 (GRCm39) critical splice donor site probably null
Y4335:Aak1 UTSW 6 86,936,124 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CTGCAGAGATTCTTCCCAGC -3'
(R):5'- GACTGCCATCATCCGATGTC -3'

Sequencing Primer
(F):5'- CAGCTATTCGATCTCTACACAATGG -3'
(R):5'- CGATGTCTTTCACCAAACGG -3'
Posted On 2015-07-21