Incidental Mutation 'R2571:Akap8'
ID 252604
Institutional Source Beutler Lab
Gene Symbol Akap8
Ensembl Gene ENSMUSG00000024045
Gene Name A kinase anchor protein 8
Synonyms AKAP95, 1200016A02Rik
MMRRC Submission 040429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2571 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32522646-32540212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32534429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 339 (E339G)
Ref Sequence ENSEMBL: ENSMUSP00000002699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002699]
AlphaFold Q9DBR0
Predicted Effect probably damaging
Transcript: ENSMUST00000002699
AA Change: E339G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: E339G

DomainStartEndE-ValueType
SCOP:d1a0tp_ 12 108 3e-19 SMART
low complexity region 183 198 N/A INTRINSIC
low complexity region 257 270 N/A INTRINSIC
low complexity region 354 384 N/A INTRINSIC
ZnF_C2H2 387 411 9.46e0 SMART
Blast:ZnF_C2H2 476 501 9e-9 BLAST
low complexity region 551 582 N/A INTRINSIC
low complexity region 642 651 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable and overtly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,289,044 (GRCm39) N2438S probably benign Het
Ago3 G A 4: 126,257,604 (GRCm39) R476W probably damaging Het
Apba2 T C 7: 64,395,498 (GRCm39) V658A probably damaging Het
Bcl3 T C 7: 19,543,452 (GRCm39) D338G probably damaging Het
Bpnt2 C T 4: 4,778,192 (GRCm39) probably null Het
Ccdc138 T C 10: 58,349,044 (GRCm39) Y197H probably benign Het
Ccdc162 T A 10: 41,428,393 (GRCm39) Q499L probably damaging Het
Ccser1 G A 6: 61,399,944 (GRCm39) C21Y probably damaging Het
Chil6 A T 3: 106,297,709 (GRCm39) Y229* probably null Het
Cntnap5a C T 1: 116,112,092 (GRCm39) R461C probably damaging Het
Col19a1 T A 1: 24,413,712 (GRCm39) R407S unknown Het
Crlf3 A T 11: 79,938,339 (GRCm39) F433I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah10 A T 5: 124,852,542 (GRCm39) R1867W probably damaging Het
Dsg3 T C 18: 20,673,062 (GRCm39) V911A probably benign Het
Dzip3 T C 16: 48,792,581 (GRCm39) probably null Het
Evpl T C 11: 116,128,795 (GRCm39) Q10R unknown Het
Glra3 C T 8: 56,563,516 (GRCm39) A337V probably benign Het
H2-T5 C T 17: 36,478,553 (GRCm39) G132R possibly damaging Het
Hcfc2 T C 10: 82,544,857 (GRCm39) F163S probably damaging Het
Hells T C 19: 38,948,177 (GRCm39) V701A possibly damaging Het
Helz A G 11: 107,504,778 (GRCm39) T422A probably benign Het
Hhat G A 1: 192,235,330 (GRCm39) T442I probably damaging Het
Hmces A T 6: 87,913,202 (GRCm39) Q319L possibly damaging Het
Ighv1-62-1 T A 12: 115,350,377 (GRCm39) T97S probably damaging Het
Kcne2 C T 16: 92,093,800 (GRCm39) T109I probably damaging Het
Kcnq1 T G 7: 142,661,433 (GRCm39) L113R probably benign Het
Kdm5d T C Y: 940,932 (GRCm39) S1106P probably benign Het
Kel C A 6: 41,665,001 (GRCm39) A588S possibly damaging Het
Kmt2e T A 5: 23,706,885 (GRCm39) F1483I probably benign Het
Krt4 T A 15: 101,829,692 (GRCm39) N279Y probably damaging Het
Lama4 T A 10: 38,918,671 (GRCm39) M384K possibly damaging Het
Lepr C T 4: 101,625,369 (GRCm39) T508I possibly damaging Het
Lypd10 A G 7: 24,412,819 (GRCm39) I76V probably benign Het
Map1lc3b T A 8: 122,320,213 (GRCm39) probably null Het
Me1 T C 9: 86,536,751 (GRCm39) H108R probably damaging Het
Mindy4 T C 6: 55,261,770 (GRCm39) S560P probably damaging Het
Mmp3 T A 9: 7,451,844 (GRCm39) I394N possibly damaging Het
Mmrn2 T C 14: 34,124,896 (GRCm39) S826P probably damaging Het
Or13n4 T A 7: 106,422,933 (GRCm39) M267L probably benign Het
Osbpl7 T C 11: 96,945,667 (GRCm39) L138P probably damaging Het
Pcdhga11 G A 18: 37,889,921 (GRCm39) E310K probably damaging Het
Pcif1 A G 2: 164,726,131 (GRCm39) D39G probably damaging Het
Ppp1r21 C T 17: 88,852,810 (GRCm39) T63I probably benign Het
Prickle2 T C 6: 92,682,381 (GRCm39) Q25R probably benign Het
Ptk2 A G 15: 73,103,768 (GRCm39) L94P probably damaging Het
Ptprg T C 14: 12,122,135 (GRCm38) F333S probably benign Het
Rag2 T A 2: 101,460,312 (GRCm39) H207Q probably damaging Het
Rps6ka1 G T 4: 133,587,923 (GRCm39) probably null Het
Rps6ka4 G T 19: 6,815,471 (GRCm39) H174Q probably damaging Het
Rreb1 C A 13: 38,083,613 (GRCm39) T92K probably damaging Het
Ryr1 A T 7: 28,708,987 (GRCm39) M4793K unknown Het
Ryr1 T A 7: 28,735,551 (GRCm39) M4076L possibly damaging Het
Sec16a A C 2: 26,329,343 (GRCm39) S891A probably benign Het
Sgsh A G 11: 119,241,340 (GRCm39) Y132H probably damaging Het
Sos2 T A 12: 69,682,492 (GRCm39) E242V possibly damaging Het
Spata31d1c G T 13: 65,184,198 (GRCm39) R580L probably damaging Het
Spata9 C A 13: 76,115,880 (GRCm39) probably benign Het
Tead2 T A 7: 44,875,194 (GRCm39) V202E probably damaging Het
Thada T C 17: 84,762,068 (GRCm39) K168E probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Tra2a G T 6: 49,229,421 (GRCm39) probably benign Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Ttc13 A C 8: 125,410,538 (GRCm39) Y372D probably damaging Het
Vit T C 17: 78,894,174 (GRCm39) V192A probably benign Het
Vmn2r69 T C 7: 85,064,764 (GRCm39) T41A probably benign Het
Vps13d C A 4: 144,875,706 (GRCm39) K1600N probably benign Het
Xpnpep3 A T 15: 81,335,127 (GRCm39) H420L probably damaging Het
Zfp322a A G 13: 23,540,614 (GRCm39) L376P probably damaging Het
Zfp619 T C 7: 39,186,595 (GRCm39) L875P probably damaging Het
Zic5 T A 14: 122,696,890 (GRCm39) Q575L unknown Het
Other mutations in Akap8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Akap8 APN 17 32,536,254 (GRCm39) missense probably damaging 1.00
IGL01450:Akap8 APN 17 32,534,661 (GRCm39) missense probably damaging 1.00
IGL02002:Akap8 APN 17 32,528,470 (GRCm39) missense probably damaging 1.00
IGL02223:Akap8 APN 17 32,535,621 (GRCm39) missense probably damaging 1.00
IGL02315:Akap8 APN 17 32,524,475 (GRCm39) missense probably benign 0.01
IGL03404:Akap8 APN 17 32,531,250 (GRCm39) splice site probably benign
BB006:Akap8 UTSW 17 32,528,419 (GRCm39) missense probably damaging 1.00
BB016:Akap8 UTSW 17 32,528,419 (GRCm39) missense probably damaging 1.00
R0310:Akap8 UTSW 17 32,535,234 (GRCm39) missense possibly damaging 0.81
R0526:Akap8 UTSW 17 32,536,266 (GRCm39) missense probably benign 0.28
R1795:Akap8 UTSW 17 32,534,451 (GRCm39) missense probably damaging 1.00
R1992:Akap8 UTSW 17 32,535,586 (GRCm39) missense probably damaging 0.99
R2918:Akap8 UTSW 17 32,524,622 (GRCm39) missense probably benign 0.01
R3423:Akap8 UTSW 17 32,535,429 (GRCm39) missense possibly damaging 0.61
R3870:Akap8 UTSW 17 32,536,813 (GRCm39) unclassified probably benign
R4077:Akap8 UTSW 17 32,531,272 (GRCm39) missense probably damaging 1.00
R4078:Akap8 UTSW 17 32,531,272 (GRCm39) missense probably damaging 1.00
R4379:Akap8 UTSW 17 32,525,534 (GRCm39) missense probably damaging 0.99
R4756:Akap8 UTSW 17 32,535,184 (GRCm39) missense probably damaging 0.98
R4819:Akap8 UTSW 17 32,531,279 (GRCm39) missense probably damaging 1.00
R5091:Akap8 UTSW 17 32,535,208 (GRCm39) missense probably benign 0.05
R5761:Akap8 UTSW 17 32,536,159 (GRCm39) missense possibly damaging 0.56
R6896:Akap8 UTSW 17 32,536,305 (GRCm39) missense probably benign 0.00
R7138:Akap8 UTSW 17 32,535,515 (GRCm39) missense possibly damaging 0.86
R7350:Akap8 UTSW 17 32,535,549 (GRCm39) missense possibly damaging 0.92
R7929:Akap8 UTSW 17 32,528,419 (GRCm39) missense probably damaging 1.00
R8693:Akap8 UTSW 17 32,529,625 (GRCm39) missense probably damaging 1.00
R8810:Akap8 UTSW 17 32,525,504 (GRCm39) missense probably damaging 1.00
R9521:Akap8 UTSW 17 32,530,036 (GRCm39) missense possibly damaging 0.89
X0020:Akap8 UTSW 17 32,534,724 (GRCm39) missense probably benign 0.08
Z1176:Akap8 UTSW 17 32,525,523 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGGTTGTTACAGGATGCAC -3'
(R):5'- TGAAGAACCTGATGCCAAACTGG -3'

Sequencing Primer
(F):5'- GCACACCAAAGGTATATGGTTC -3'
(R):5'- AACGGTATGCTCTGGGATCAC -3'
Posted On 2014-12-04