Incidental Mutation 'R1512:Akap6'
ID 168438
Institutional Source Beutler Lab
Gene Symbol Akap6
Ensembl Gene ENSMUSG00000061603
Gene Name A kinase anchor protein 6
Synonyms
MMRRC Submission 039559-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.776) question?
Stock # R1512 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 52746166-53202382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52983937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 827 (D827G)
Ref Sequence ENSEMBL: ENSMUSP00000151871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095737] [ENSMUST00000219786]
AlphaFold E9Q9K8
Predicted Effect probably damaging
Transcript: ENSMUST00000095737
AA Change: D827G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: D827G

DomainStartEndE-ValueType
low complexity region 34 51 N/A INTRINSIC
Blast:SPEC 66 168 2e-50 BLAST
low complexity region 441 455 N/A INTRINSIC
low complexity region 544 555 N/A INTRINSIC
low complexity region 569 587 N/A INTRINSIC
low complexity region 640 651 N/A INTRINSIC
low complexity region 694 708 N/A INTRINSIC
SPEC 779 880 1.06e-1 SMART
SPEC 959 1057 1.45e0 SMART
SPEC 1078 1185 2.56e-2 SMART
low complexity region 1316 1332 N/A INTRINSIC
low complexity region 1555 1568 N/A INTRINSIC
low complexity region 1610 1622 N/A INTRINSIC
low complexity region 1683 1698 N/A INTRINSIC
low complexity region 1737 1781 N/A INTRINSIC
low complexity region 1899 1910 N/A INTRINSIC
low complexity region 2019 2031 N/A INTRINSIC
low complexity region 2104 2115 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219786
AA Change: D827G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4829 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 95% (79/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,086,295 (GRCm39) D40E probably benign Het
Acsf2 C T 11: 94,452,224 (GRCm39) probably benign Het
Adamts19 C T 18: 59,181,917 (GRCm39) H1119Y possibly damaging Het
Ankrd33b T C 15: 31,367,375 (GRCm39) D55G probably damaging Het
Ano5 T A 7: 51,229,316 (GRCm39) H569Q probably benign Het
Aox1 A G 1: 58,346,510 (GRCm39) D548G probably benign Het
Baz2a A G 10: 127,960,021 (GRCm39) D1433G possibly damaging Het
BC031181 T G 18: 75,141,767 (GRCm39) V8G probably damaging Het
Bicdl2 A T 17: 23,887,083 (GRCm39) M457L probably damaging Het
C130074G19Rik T C 1: 184,615,103 (GRCm39) D29G probably damaging Het
Cd200r1 A T 16: 44,586,390 (GRCm39) T7S probably benign Het
Cdc37 A G 9: 21,053,712 (GRCm39) probably benign Het
Cmtr2 T C 8: 110,949,267 (GRCm39) S526P probably damaging Het
Cntn2 G T 1: 132,451,430 (GRCm39) A433D probably damaging Het
Cntnap5a T C 1: 115,828,680 (GRCm39) S35P probably benign Het
Csf3r A G 4: 125,923,777 (GRCm39) T96A possibly damaging Het
Ctbs A G 3: 146,160,720 (GRCm39) N96D probably benign Het
Cyp26b1 C A 6: 84,553,979 (GRCm39) V213L probably benign Het
Dach1 A G 14: 98,138,835 (GRCm39) L536P probably damaging Het
Dcaf6 T C 1: 165,179,589 (GRCm39) Q517R probably benign Het
Dnah1 G T 14: 31,014,994 (GRCm39) Q1733K probably damaging Het
Dnah17 A T 11: 117,985,841 (GRCm39) I1416N probably benign Het
Dock11 G A X: 35,283,688 (GRCm39) R1102H probably damaging Het
Dpp8 T C 9: 64,971,096 (GRCm39) probably benign Het
Emc1 G A 4: 139,087,495 (GRCm39) probably null Het
Emc8 A G 8: 121,384,983 (GRCm39) L76P possibly damaging Het
Emx2 T C 19: 59,448,035 (GRCm39) Y130H possibly damaging Het
Fbf1 C T 11: 116,038,753 (GRCm39) R815Q probably damaging Het
Foxb2 G A 19: 16,849,878 (GRCm39) P376L probably damaging Het
Gabrb1 C A 5: 72,266,047 (GRCm39) L202I probably damaging Het
Gabrb1 T A 5: 72,266,048 (GRCm39) L202Q probably damaging Het
Grin2c T A 11: 115,144,676 (GRCm39) I617F probably damaging Het
Gtf2h3 T A 5: 124,728,933 (GRCm39) V164E probably damaging Het
Gusb T C 5: 130,029,731 (GRCm39) Q88R probably damaging Het
Hormad2 T A 11: 4,374,788 (GRCm39) K75N probably damaging Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Ivns1abp A T 1: 151,236,687 (GRCm39) Q416L possibly damaging Het
Ivns1abp G C 1: 151,236,688 (GRCm39) Q416H probably benign Het
Kcnh5 T A 12: 75,166,711 (GRCm39) H178L probably benign Het
Kif21b A G 1: 136,080,543 (GRCm39) N579S probably benign Het
Kif26a G C 12: 112,113,389 (GRCm39) R95P possibly damaging Het
Kl A G 5: 150,912,062 (GRCm39) I604V probably benign Het
Klhl24 A G 16: 19,941,686 (GRCm39) K545E probably damaging Het
Mcm3ap A G 10: 76,306,347 (GRCm39) I153M probably damaging Het
Meis1 T G 11: 18,831,682 (GRCm39) D452A probably damaging Het
Msantd4 C T 9: 4,384,138 (GRCm39) P153L probably benign Het
Myot A G 18: 44,475,422 (GRCm39) E181G probably damaging Het
Nf1 T C 11: 79,281,195 (GRCm39) F150S probably damaging Het
Nyap2 T A 1: 81,219,566 (GRCm39) S529R probably damaging Het
Or10d3 T C 9: 39,461,390 (GRCm39) Y259C probably damaging Het
Or12e10 A T 2: 87,640,988 (GRCm39) T275S probably benign Het
Or2y1c A G 11: 49,361,286 (GRCm39) I103V probably benign Het
Or8b56 T A 9: 38,739,660 (GRCm39) Y224* probably null Het
Pcnt C T 10: 76,240,496 (GRCm39) probably null Het
Pik3c3 T C 18: 30,455,289 (GRCm39) probably null Het
Pkdcc A T 17: 83,527,473 (GRCm39) Y217F possibly damaging Het
Pnpla6 C A 8: 3,585,459 (GRCm39) probably benign Het
Polr3gl T C 3: 96,488,190 (GRCm39) M26V probably benign Het
Ppp1r13b T C 12: 111,838,842 (GRCm39) N12S possibly damaging Het
Ppp1r26 G A 2: 28,341,528 (GRCm39) R386K probably benign Het
Prdm10 A G 9: 31,248,697 (GRCm39) E355G probably damaging Het
Prex2 T C 1: 11,131,554 (GRCm39) F41S possibly damaging Het
Prkar1b G T 5: 139,036,428 (GRCm39) Y231* probably null Het
Prkdc A T 16: 15,505,268 (GRCm39) I857L probably benign Het
Psg21 A T 7: 18,390,425 (GRCm39) N10K probably benign Het
Rapgef3 A T 15: 97,655,382 (GRCm39) V444E probably benign Het
Rnf17 A T 14: 56,705,243 (GRCm39) T716S probably benign Het
Rps6ka1 C T 4: 133,578,315 (GRCm39) R577H probably damaging Het
Scn1a A C 2: 66,161,629 (GRCm39) N306K possibly damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Ssu2 A G 6: 112,364,959 (GRCm39) M1T probably null Het
Stag3 A T 5: 138,296,247 (GRCm39) T437S probably benign Het
Tal2 A G 4: 53,786,107 (GRCm39) Y96C probably benign Het
Thoc3 A T 13: 54,613,991 (GRCm39) probably null Het
Tle1 T C 4: 72,059,495 (GRCm39) D19G probably damaging Het
Trpm4 A G 7: 44,964,468 (GRCm39) I690T probably benign Het
Trpm6 A T 19: 18,853,295 (GRCm39) M1772L probably benign Het
Unc5b G A 10: 60,667,254 (GRCm39) probably benign Het
Usf3 G T 16: 44,041,561 (GRCm39) V2014F probably damaging Het
Utp18 C T 11: 93,776,390 (GRCm39) A32T probably benign Het
Wdfy4 A G 14: 32,682,765 (GRCm39) V2981A probably damaging Het
Zfp608 A G 18: 55,079,738 (GRCm39) V349A probably damaging Het
Znfx1 A C 2: 166,898,237 (GRCm39) I229S probably benign Het
Other mutations in Akap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Akap6 APN 12 53,187,763 (GRCm39) missense possibly damaging 0.79
IGL00505:Akap6 APN 12 52,933,885 (GRCm39) missense possibly damaging 0.92
IGL01134:Akap6 APN 12 52,984,000 (GRCm39) missense probably damaging 0.96
IGL01458:Akap6 APN 12 52,933,601 (GRCm39) nonsense probably null
IGL01589:Akap6 APN 12 53,186,447 (GRCm39) missense probably damaging 1.00
IGL01592:Akap6 APN 12 53,188,925 (GRCm39) missense probably damaging 1.00
IGL01738:Akap6 APN 12 52,933,600 (GRCm39) missense probably damaging 0.99
IGL01867:Akap6 APN 12 52,934,791 (GRCm39) missense probably damaging 1.00
IGL02025:Akap6 APN 12 53,187,118 (GRCm39) missense probably benign
IGL02041:Akap6 APN 12 53,187,436 (GRCm39) missense probably damaging 1.00
IGL02058:Akap6 APN 12 53,187,338 (GRCm39) missense probably damaging 1.00
IGL02194:Akap6 APN 12 52,933,606 (GRCm39) missense probably benign 0.00
IGL02226:Akap6 APN 12 53,057,250 (GRCm39) splice site probably benign
IGL02323:Akap6 APN 12 53,187,212 (GRCm39) missense probably benign 0.00
IGL02449:Akap6 APN 12 53,186,971 (GRCm39) missense probably damaging 1.00
IGL02475:Akap6 APN 12 53,186,277 (GRCm39) missense probably benign 0.03
IGL02546:Akap6 APN 12 52,927,521 (GRCm39) missense probably damaging 1.00
IGL02547:Akap6 APN 12 53,187,479 (GRCm39) missense probably damaging 1.00
IGL02588:Akap6 APN 12 52,933,282 (GRCm39) nonsense probably null
IGL02608:Akap6 APN 12 53,057,389 (GRCm39) missense probably benign 0.39
IGL02884:Akap6 APN 12 52,933,405 (GRCm39) missense probably benign 0.00
IGL02945:Akap6 APN 12 52,927,620 (GRCm39) missense probably damaging 1.00
IGL03029:Akap6 APN 12 52,933,195 (GRCm39) missense probably damaging 1.00
IGL03129:Akap6 APN 12 53,187,089 (GRCm39) missense probably damaging 1.00
R0133:Akap6 UTSW 12 53,186,254 (GRCm39) nonsense probably null
R0166:Akap6 UTSW 12 53,187,707 (GRCm39) missense probably benign 0.04
R0189:Akap6 UTSW 12 53,188,037 (GRCm39) missense probably benign 0.41
R0532:Akap6 UTSW 12 52,934,766 (GRCm39) missense probably benign 0.00
R0632:Akap6 UTSW 12 52,983,931 (GRCm39) missense probably damaging 1.00
R0666:Akap6 UTSW 12 52,958,591 (GRCm39) missense probably damaging 1.00
R0723:Akap6 UTSW 12 53,188,685 (GRCm39) missense probably damaging 1.00
R0763:Akap6 UTSW 12 53,188,997 (GRCm39) missense possibly damaging 0.93
R0785:Akap6 UTSW 12 52,933,405 (GRCm39) missense probably benign 0.00
R0879:Akap6 UTSW 12 52,927,582 (GRCm39) missense probably damaging 1.00
R0880:Akap6 UTSW 12 53,186,291 (GRCm39) missense possibly damaging 0.93
R1033:Akap6 UTSW 12 53,116,005 (GRCm39) missense probably damaging 0.97
R1055:Akap6 UTSW 12 52,927,455 (GRCm39) nonsense probably null
R1199:Akap6 UTSW 12 52,842,973 (GRCm39) missense probably damaging 1.00
R1295:Akap6 UTSW 12 52,933,812 (GRCm39) missense probably damaging 1.00
R1389:Akap6 UTSW 12 53,186,303 (GRCm39) missense probably benign 0.15
R1471:Akap6 UTSW 12 53,188,279 (GRCm39) missense probably benign 0.05
R1483:Akap6 UTSW 12 52,842,870 (GRCm39) missense probably damaging 1.00
R1648:Akap6 UTSW 12 53,188,789 (GRCm39) nonsense probably null
R1791:Akap6 UTSW 12 53,115,908 (GRCm39) missense probably damaging 1.00
R1888:Akap6 UTSW 12 53,188,958 (GRCm39) missense possibly damaging 0.88
R1888:Akap6 UTSW 12 53,188,958 (GRCm39) missense possibly damaging 0.88
R1891:Akap6 UTSW 12 53,188,958 (GRCm39) missense possibly damaging 0.88
R1899:Akap6 UTSW 12 53,188,635 (GRCm39) missense possibly damaging 0.95
R1917:Akap6 UTSW 12 53,151,395 (GRCm39) missense probably benign 0.13
R1970:Akap6 UTSW 12 52,985,258 (GRCm39) missense probably damaging 0.96
R1987:Akap6 UTSW 12 53,187,578 (GRCm39) missense possibly damaging 0.78
R1988:Akap6 UTSW 12 53,187,578 (GRCm39) missense possibly damaging 0.78
R2153:Akap6 UTSW 12 53,188,187 (GRCm39) missense probably benign 0.03
R2567:Akap6 UTSW 12 52,985,156 (GRCm39) missense probably damaging 1.00
R2568:Akap6 UTSW 12 52,934,061 (GRCm39) missense possibly damaging 0.77
R3025:Akap6 UTSW 12 53,186,926 (GRCm39) missense probably benign
R3051:Akap6 UTSW 12 52,933,816 (GRCm39) missense probably damaging 1.00
R3195:Akap6 UTSW 12 53,119,240 (GRCm39) nonsense probably null
R3196:Akap6 UTSW 12 53,119,240 (GRCm39) nonsense probably null
R3426:Akap6 UTSW 12 52,934,817 (GRCm39) missense probably damaging 1.00
R3783:Akap6 UTSW 12 52,927,552 (GRCm39) missense probably damaging 1.00
R3934:Akap6 UTSW 12 53,187,227 (GRCm39) missense possibly damaging 0.92
R3936:Akap6 UTSW 12 53,187,227 (GRCm39) missense possibly damaging 0.92
R3967:Akap6 UTSW 12 53,188,236 (GRCm39) missense probably damaging 1.00
R3970:Akap6 UTSW 12 53,188,236 (GRCm39) missense probably damaging 1.00
R4042:Akap6 UTSW 12 53,186,162 (GRCm39) critical splice acceptor site probably null
R4095:Akap6 UTSW 12 53,186,245 (GRCm39) missense probably damaging 1.00
R4152:Akap6 UTSW 12 53,187,190 (GRCm39) missense probably benign 0.45
R4231:Akap6 UTSW 12 53,187,821 (GRCm39) missense probably damaging 1.00
R4232:Akap6 UTSW 12 53,186,454 (GRCm39) missense probably damaging 1.00
R4233:Akap6 UTSW 12 53,186,454 (GRCm39) missense probably damaging 1.00
R4234:Akap6 UTSW 12 53,186,454 (GRCm39) missense probably damaging 1.00
R4235:Akap6 UTSW 12 53,186,454 (GRCm39) missense probably damaging 1.00
R4236:Akap6 UTSW 12 53,186,454 (GRCm39) missense probably damaging 1.00
R4475:Akap6 UTSW 12 53,188,426 (GRCm39) missense probably benign 0.00
R4513:Akap6 UTSW 12 52,842,787 (GRCm39) missense probably benign 0.03
R4686:Akap6 UTSW 12 52,934,406 (GRCm39) frame shift probably null
R4724:Akap6 UTSW 12 52,842,668 (GRCm39) missense possibly damaging 0.80
R4782:Akap6 UTSW 12 52,934,406 (GRCm39) frame shift probably null
R4852:Akap6 UTSW 12 53,151,458 (GRCm39) missense probably damaging 1.00
R5024:Akap6 UTSW 12 53,189,345 (GRCm39) missense probably benign 0.01
R5116:Akap6 UTSW 12 53,188,298 (GRCm39) missense probably benign 0.01
R5164:Akap6 UTSW 12 53,189,249 (GRCm39) missense probably benign
R5225:Akap6 UTSW 12 52,933,329 (GRCm39) missense probably damaging 1.00
R5269:Akap6 UTSW 12 53,186,626 (GRCm39) missense probably damaging 0.99
R5352:Akap6 UTSW 12 52,842,880 (GRCm39) missense probably damaging 1.00
R5496:Akap6 UTSW 12 53,187,436 (GRCm39) missense possibly damaging 0.87
R5551:Akap6 UTSW 12 52,842,747 (GRCm39) missense probably damaging 1.00
R5997:Akap6 UTSW 12 52,984,016 (GRCm39) critical splice donor site probably null
R6137:Akap6 UTSW 12 53,187,137 (GRCm39) missense probably damaging 1.00
R6151:Akap6 UTSW 12 53,072,575 (GRCm39) missense probably damaging 1.00
R6169:Akap6 UTSW 12 53,189,141 (GRCm39) missense probably benign
R6307:Akap6 UTSW 12 53,188,351 (GRCm39) missense possibly damaging 0.85
R6351:Akap6 UTSW 12 53,188,808 (GRCm39) missense probably damaging 0.98
R6479:Akap6 UTSW 12 53,187,952 (GRCm39) missense probably damaging 1.00
R6502:Akap6 UTSW 12 53,186,998 (GRCm39) missense probably damaging 1.00
R6760:Akap6 UTSW 12 53,186,561 (GRCm39) missense probably damaging 1.00
R6778:Akap6 UTSW 12 53,072,599 (GRCm39) missense probably damaging 1.00
R6837:Akap6 UTSW 12 53,188,045 (GRCm39) missense probably damaging 1.00
R6896:Akap6 UTSW 12 52,934,277 (GRCm39) missense probably benign 0.06
R6917:Akap6 UTSW 12 53,115,951 (GRCm39) missense probably null 0.97
R6983:Akap6 UTSW 12 52,934,436 (GRCm39) missense probably damaging 1.00
R7142:Akap6 UTSW 12 52,934,147 (GRCm39) missense probably benign 0.02
R7143:Akap6 UTSW 12 52,934,147 (GRCm39) missense probably benign 0.02
R7216:Akap6 UTSW 12 53,187,240 (GRCm39) missense probably benign 0.02
R7297:Akap6 UTSW 12 52,934,147 (GRCm39) missense probably benign 0.02
R7356:Akap6 UTSW 12 52,958,647 (GRCm39) missense probably damaging 1.00
R7378:Akap6 UTSW 12 53,189,357 (GRCm39) missense probably benign 0.00
R7382:Akap6 UTSW 12 53,188,954 (GRCm39) missense probably benign 0.00
R7498:Akap6 UTSW 12 53,189,488 (GRCm39) nonsense probably null
R7542:Akap6 UTSW 12 53,116,017 (GRCm39) missense probably damaging 1.00
R7589:Akap6 UTSW 12 53,188,846 (GRCm39) nonsense probably null
R7676:Akap6 UTSW 12 52,933,633 (GRCm39) missense possibly damaging 0.94
R7814:Akap6 UTSW 12 53,187,744 (GRCm39) missense probably benign 0.28
R7971:Akap6 UTSW 12 53,186,578 (GRCm39) missense probably damaging 1.00
R8039:Akap6 UTSW 12 53,188,459 (GRCm39) missense probably benign 0.00
R8425:Akap6 UTSW 12 52,933,404 (GRCm39) missense probably benign 0.00
R8747:Akap6 UTSW 12 53,188,999 (GRCm39) missense probably benign 0.01
R8885:Akap6 UTSW 12 53,188,319 (GRCm39) missense probably benign
R8956:Akap6 UTSW 12 53,187,127 (GRCm39) missense probably benign 0.00
R8989:Akap6 UTSW 12 52,927,654 (GRCm39) missense probably damaging 1.00
R9014:Akap6 UTSW 12 53,186,403 (GRCm39) missense possibly damaging 0.60
R9031:Akap6 UTSW 12 53,188,831 (GRCm39) missense probably benign 0.36
R9216:Akap6 UTSW 12 52,927,668 (GRCm39) missense probably benign 0.05
R9220:Akap6 UTSW 12 53,187,232 (GRCm39) missense possibly damaging 0.49
R9243:Akap6 UTSW 12 53,188,035 (GRCm39) missense probably benign 0.08
R9286:Akap6 UTSW 12 53,119,254 (GRCm39) missense possibly damaging 0.90
R9347:Akap6 UTSW 12 53,115,894 (GRCm39) missense probably damaging 1.00
R9475:Akap6 UTSW 12 53,057,335 (GRCm39) missense probably damaging 1.00
R9509:Akap6 UTSW 12 53,189,021 (GRCm39) missense probably damaging 0.99
R9523:Akap6 UTSW 12 52,842,672 (GRCm39) missense probably benign 0.02
R9600:Akap6 UTSW 12 52,933,341 (GRCm39) missense probably benign 0.04
R9612:Akap6 UTSW 12 52,958,690 (GRCm39) missense probably damaging 1.00
R9627:Akap6 UTSW 12 53,151,413 (GRCm39) missense
R9666:Akap6 UTSW 12 53,188,318 (GRCm39) missense probably benign
R9784:Akap6 UTSW 12 53,187,853 (GRCm39) missense probably damaging 1.00
X0062:Akap6 UTSW 12 53,189,144 (GRCm39) missense probably benign 0.43
Z1176:Akap6 UTSW 12 53,187,227 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CGAGCAGTTTCCAAACAGATGCAC -3'
(R):5'- CGGATGGCAAGCCCCAAATAAAATG -3'

Sequencing Primer
(F):5'- GATGCACTCTGCTAGTCTAACAG -3'
(R):5'- ACAGACCGTTTGGAGGC -3'
Posted On 2014-04-13