Incidental Mutation 'R6759:Aak1'
ID 531139
Institutional Source Beutler Lab
Gene Symbol Aak1
Ensembl Gene ENSMUSG00000057230
Gene Name AP2 associated kinase 1
Synonyms D6Ertd245e, 5530400K14Rik
MMRRC Submission 044875-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.451) question?
Stock # R6759 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86826499-86980205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86921399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 199 (T199A)
Ref Sequence ENSEMBL: ENSMUSP00000086948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003710] [ENSMUST00000089519]
AlphaFold Q3UHJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000003710
AA Change: T199A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003710
Gene: ENSMUSG00000057230
AA Change: T199A

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 probably damaging
Transcript: ENSMUST00000089519
AA Change: T199A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086948
Gene: ENSMUSG00000057230
AA Change: T199A

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: ENSMUST00000113668
SMART Domains Protein: ENSMUSP00000109298
Gene: ENSMUSG00000057230

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:Pkinase_Tyr 46 310 3.5e-28 PFAM
Pfam:Pkinase 46 312 1.7e-43 PFAM
Pfam:Kinase-like 126 301 1.6e-7 PFAM
Meta Mutation Damage Score 0.4147 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,331,692 (GRCm39) S841G probably benign Het
4933427I04Rik G T 4: 123,753,879 (GRCm39) probably benign Het
Acnat2 C A 4: 49,380,254 (GRCm39) V375L probably benign Het
Aldh1a7 T C 19: 20,677,320 (GRCm39) T434A possibly damaging Het
Aldh3a2 T C 11: 61,156,088 (GRCm39) T63A probably benign Het
Anxa2 T C 9: 69,391,103 (GRCm39) S97P probably damaging Het
Apip T C 2: 102,922,191 (GRCm39) S186P probably benign Het
Apob A G 12: 8,061,049 (GRCm39) K3177R probably benign Het
Atm C T 9: 53,429,859 (GRCm39) W392* probably null Het
Atp8b1 T A 18: 64,679,161 (GRCm39) R773S probably benign Het
Bicdl2 T A 17: 23,885,718 (GRCm39) probably null Het
Bltp1 C T 3: 37,042,234 (GRCm39) T2740I possibly damaging Het
Cacng3 G A 7: 122,361,547 (GRCm39) probably null Het
Clca3a1 G T 3: 144,455,450 (GRCm39) L448M probably damaging Het
Clk4 A G 11: 51,166,401 (GRCm39) I94M possibly damaging Het
Cnot3 G T 7: 3,654,918 (GRCm39) V124F probably damaging Het
Cyp4a30b C T 4: 115,318,571 (GRCm39) A426V probably benign Het
Dact1 T A 12: 71,364,911 (GRCm39) L564* probably null Het
Dnah8 T A 17: 30,882,266 (GRCm39) probably null Het
Dock5 T A 14: 68,033,445 (GRCm39) T975S probably benign Het
Dock8 C A 19: 25,104,848 (GRCm39) H739Q probably damaging Het
Efr3b T A 12: 4,034,613 (GRCm39) N186Y probably damaging Het
Enam G A 5: 88,649,550 (GRCm39) G278D probably damaging Het
Fgl2 A G 5: 21,578,256 (GRCm39) D181G probably benign Het
Gfra3 G T 18: 34,828,926 (GRCm39) S156* probably null Het
Jam3 G C 9: 27,013,276 (GRCm39) T98S probably benign Het
Ltbp2 A T 12: 84,834,184 (GRCm39) I1435N probably damaging Het
Man2a1 G A 17: 64,932,383 (GRCm39) A157T probably benign Het
Mcm3ap T A 10: 76,337,148 (GRCm39) V1361E probably benign Het
Nobox A T 6: 43,284,538 (GRCm39) L36Q possibly damaging Het
Or2ag12 T A 7: 106,277,100 (GRCm39) M198L probably benign Het
Or51a10 A G 7: 103,699,334 (GRCm39) S76P probably damaging Het
Parp4 G A 14: 56,857,947 (GRCm39) V860I probably benign Het
Pim3 T A 15: 88,747,296 (GRCm39) probably null Het
Ptpn13 A T 5: 103,713,121 (GRCm39) N1748I possibly damaging Het
Rad51ap2 A G 12: 11,507,145 (GRCm39) T356A possibly damaging Het
Ranbp2 C T 10: 58,293,559 (GRCm39) R310* probably null Het
Rassf5 C T 1: 131,109,988 (GRCm39) V190I probably benign Het
Rgl1 T G 1: 152,409,281 (GRCm39) Q481P probably damaging Het
Rrp1b A G 17: 32,276,063 (GRCm39) T537A probably benign Het
Smok3c T A 5: 138,063,699 (GRCm39) S395R probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Strn4 A T 7: 16,556,978 (GRCm39) E145V probably damaging Het
Tex21 T A 12: 76,251,086 (GRCm39) probably null Het
Usp37 G A 1: 74,534,908 (GRCm39) R13* probably null Het
Uty G T Y: 1,174,735 (GRCm39) L222I probably damaging Homo
Wwp2 A G 8: 108,267,314 (GRCm39) T309A probably damaging Het
Zfp40 C T 17: 23,395,510 (GRCm39) R359H possibly 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
R4431:Aak1 UTSW 6 86,963,300 (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
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'- GGGGTGAGTCCTGTTAAGATAC -3'
(R):5'- TGCTCTGGGCTAAAGGGTAAC -3'

Sequencing Primer
(F):5'- TAACTTCTCTGTGCACACCAGTAAG -3'
(R):5'- CTAAAGGGTAACTGGCCTGCAC -3'
Posted On 2018-08-01