Incidental Mutation 'R0666:Akap6'
ID 62037
Institutional Source Beutler Lab
Gene Symbol Akap6
Ensembl Gene ENSMUSG00000061603
Gene Name A kinase (PRKA) anchor protein 6
Synonyms
MMRRC Submission 038851-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R0666 (G1)
Quality Score 96
Status Validated
Chromosome 12
Chromosomal Location 52699383-53155599 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52911808 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 782 (V782E)
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: V782E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: V782E

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: V782E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1803 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (89/89)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T G 11: 78,287,987 (GRCm38) M2026R probably damaging Het
2610507B11Rik T A 11: 78,277,212 (GRCm38) L1491* probably null Het
Atg9a A G 1: 75,185,090 (GRCm38) L604P probably damaging Het
Atp1a3 T C 7: 24,990,549 (GRCm38) I482V probably benign Het
Ccdc105 C A 10: 78,750,547 (GRCm38) L223F probably benign Het
Ccdc18 T G 5: 108,163,664 (GRCm38) V412G probably benign Het
Cct6a A G 5: 129,794,386 (GRCm38) noncoding transcript Het
Clpx A G 9: 65,310,225 (GRCm38) N25S probably damaging Het
Cnpy2 T A 10: 128,327,025 (GRCm38) C171* probably null Het
Cntnap3 C T 13: 64,757,397 (GRCm38) D857N probably damaging Het
Col5a1 A G 2: 28,032,685 (GRCm38) Y255C probably damaging Het
Coro7 A T 16: 4,631,911 (GRCm38) F638Y possibly damaging Het
Cpd A G 11: 76,782,327 (GRCm38) F1331L probably damaging Het
Csmd1 A T 8: 16,069,049 (GRCm38) I1842N possibly damaging Het
Dgkg T A 16: 22,562,730 (GRCm38) D490V probably damaging Het
Dnah9 A T 11: 66,085,458 (GRCm38) M1255K probably benign Het
E2f1 A G 2: 154,560,929 (GRCm38) V306A probably benign Het
Entpd1 A G 19: 40,659,906 (GRCm38) probably benign Het
Esrrb T A 12: 86,505,902 (GRCm38) I222N probably benign Het
Fam159b G T 13: 104,858,354 (GRCm38) T95K possibly damaging Het
Flt4 G T 11: 49,625,447 (GRCm38) A126S possibly damaging Het
Galnt11 C T 5: 25,252,147 (GRCm38) T237I possibly damaging Het
Gbf1 A G 19: 46,262,544 (GRCm38) probably benign Het
Gm20388 A T 8: 122,270,988 (GRCm38) probably benign Het
Gm7030 T C 17: 36,127,834 (GRCm38) T222A possibly damaging Het
Herc1 T A 9: 66,484,888 (GRCm38) probably benign Het
Hsph1 T C 5: 149,631,502 (GRCm38) Y105C probably damaging Het
Il23r T C 6: 67,434,680 (GRCm38) T358A probably benign Het
Il2ra C T 2: 11,643,073 (GRCm38) probably benign Het
Kbtbd4 G T 2: 90,914,115 (GRCm38) probably benign Het
Kcnt1 A G 2: 25,891,243 (GRCm38) probably benign Het
Kng2 A G 16: 22,997,122 (GRCm38) probably benign Het
Lap3 C T 5: 45,511,928 (GRCm38) T473I possibly damaging Het
Lrrk2 T C 15: 91,757,070 (GRCm38) probably null Het
Map1s A G 8: 70,914,052 (GRCm38) N534D possibly damaging Het
Mtg1 G A 7: 140,144,344 (GRCm38) V122I probably benign Het
Myadm T A 7: 3,297,349 (GRCm38) I209K probably damaging Het
Ntsr2 G A 12: 16,653,980 (GRCm38) V75I probably benign Het
Olfr1037 G A 2: 86,085,213 (GRCm38) A188V probably benign Het
Olfr1272 A T 2: 90,281,868 (GRCm38) S236T probably damaging Het
Pfn1 T C 11: 70,654,366 (GRCm38) T39A probably benign Het
Pipox T A 11: 77,883,825 (GRCm38) K144M probably benign Het
Plekhh1 G A 12: 79,069,115 (GRCm38) E811K probably damaging Het
Pnpla3 T A 15: 84,179,305 (GRCm38) W295R probably benign Het
Prkacb T A 3: 146,751,518 (GRCm38) T136S probably damaging Het
Ralbp1 T A 17: 65,854,129 (GRCm38) N473I probably benign Het
Rbp4 G A 19: 38,118,460 (GRCm38) T127M probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Rps3a1 G A 3: 86,138,117 (GRCm38) probably benign Het
Scg3 G T 9: 75,643,940 (GRCm38) Y429* probably null Het
Spag5 T C 11: 78,313,396 (GRCm38) S492P probably damaging Het
St7 T A 6: 17,934,239 (GRCm38) M540K probably damaging Het
Stxbp3 C A 3: 108,805,302 (GRCm38) V281F possibly damaging Het
Sun5 A G 2: 153,859,048 (GRCm38) V242A possibly damaging Het
Susd5 G T 9: 114,095,784 (GRCm38) R245L possibly damaging Het
Syne2 A G 12: 75,923,013 (GRCm38) E954G probably damaging Het
Synpo2 A T 3: 123,114,059 (GRCm38) V536E probably damaging Het
Tas2r140 T C 6: 133,055,442 (GRCm38) I118V probably benign Het
Tbx18 C A 9: 87,724,409 (GRCm38) V228L probably benign Het
Tdrd9 T A 12: 112,007,580 (GRCm38) probably benign Het
Tg T C 15: 66,737,521 (GRCm38) M310T probably benign Het
Ticam2 T A 18: 46,560,651 (GRCm38) D123V probably damaging Het
Timm23 A G 14: 32,199,036 (GRCm38) probably benign Het
Tinag C T 9: 77,005,687 (GRCm38) R280H probably benign Het
Topbp1 G A 9: 103,308,812 (GRCm38) R51K probably benign Het
Tor1b A G 2: 30,953,913 (GRCm38) I121V probably damaging Het
Tpmt C A 13: 47,032,454 (GRCm38) G148V probably damaging Het
Tubb1 A G 2: 174,457,755 (GRCm38) E410G probably damaging Het
Ubash3b C A 9: 41,047,064 (GRCm38) V7L possibly damaging Het
Ube2o C T 11: 116,542,835 (GRCm38) E686K probably damaging Het
Unc13d T A 11: 116,069,492 (GRCm38) probably benign Het
Vmn1r183 A T 7: 24,055,176 (GRCm38) M135L probably benign Het
Wisp3 T C 10: 39,151,289 (GRCm38) R316G probably benign Het
Xkr8 T C 4: 132,732,338 (GRCm38) Y43C probably damaging Het
Zc3h4 T A 7: 16,434,772 (GRCm38) N935K unknown Het
Zc3h7a G A 16: 11,156,303 (GRCm38) probably benign Het
Zfp84 C T 7: 29,776,851 (GRCm38) H323Y probably damaging Het
Zfp873 G T 10: 82,060,761 (GRCm38) S442I possibly damaging Het
Zfp938 A G 10: 82,225,772 (GRCm38) L338P probably damaging Het
Other mutations in Akap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Akap6 APN 12 53,140,980 (GRCm38) missense possibly damaging 0.79
IGL00505:Akap6 APN 12 52,887,102 (GRCm38) missense possibly damaging 0.92
IGL01134:Akap6 APN 12 52,937,217 (GRCm38) missense probably damaging 0.96
IGL01458:Akap6 APN 12 52,886,818 (GRCm38) nonsense probably null
IGL01589:Akap6 APN 12 53,139,664 (GRCm38) missense probably damaging 1.00
IGL01592:Akap6 APN 12 53,142,142 (GRCm38) missense probably damaging 1.00
IGL01738:Akap6 APN 12 52,886,817 (GRCm38) missense probably damaging 0.99
IGL01867:Akap6 APN 12 52,888,008 (GRCm38) missense probably damaging 1.00
IGL02025:Akap6 APN 12 53,140,335 (GRCm38) missense probably benign
IGL02041:Akap6 APN 12 53,140,653 (GRCm38) missense probably damaging 1.00
IGL02058:Akap6 APN 12 53,140,555 (GRCm38) missense probably damaging 1.00
IGL02194:Akap6 APN 12 52,886,823 (GRCm38) missense probably benign 0.00
IGL02226:Akap6 APN 12 53,010,467 (GRCm38) splice site probably benign
IGL02323:Akap6 APN 12 53,140,429 (GRCm38) missense probably benign 0.00
IGL02449:Akap6 APN 12 53,140,188 (GRCm38) missense probably damaging 1.00
IGL02475:Akap6 APN 12 53,139,494 (GRCm38) missense probably benign 0.03
IGL02546:Akap6 APN 12 52,880,738 (GRCm38) missense probably damaging 1.00
IGL02547:Akap6 APN 12 53,140,696 (GRCm38) missense probably damaging 1.00
IGL02588:Akap6 APN 12 52,886,499 (GRCm38) nonsense probably null
IGL02608:Akap6 APN 12 53,010,606 (GRCm38) missense probably benign 0.39
IGL02884:Akap6 APN 12 52,886,622 (GRCm38) missense probably benign 0.00
IGL02945:Akap6 APN 12 52,880,837 (GRCm38) missense probably damaging 1.00
IGL03029:Akap6 APN 12 52,886,412 (GRCm38) missense probably damaging 1.00
IGL03129:Akap6 APN 12 53,140,306 (GRCm38) missense probably damaging 1.00
R0133:Akap6 UTSW 12 53,139,471 (GRCm38) nonsense probably null
R0166:Akap6 UTSW 12 53,140,924 (GRCm38) missense probably benign 0.04
R0189:Akap6 UTSW 12 53,141,254 (GRCm38) missense probably benign 0.41
R0532:Akap6 UTSW 12 52,887,983 (GRCm38) missense probably benign 0.00
R0632:Akap6 UTSW 12 52,937,148 (GRCm38) missense probably damaging 1.00
R0723:Akap6 UTSW 12 53,141,902 (GRCm38) missense probably damaging 1.00
R0763:Akap6 UTSW 12 53,142,214 (GRCm38) missense possibly damaging 0.93
R0785:Akap6 UTSW 12 52,886,622 (GRCm38) missense probably benign 0.00
R0879:Akap6 UTSW 12 52,880,799 (GRCm38) missense probably damaging 1.00
R0880:Akap6 UTSW 12 53,139,508 (GRCm38) missense possibly damaging 0.93
R1033:Akap6 UTSW 12 53,069,222 (GRCm38) missense probably damaging 0.97
R1055:Akap6 UTSW 12 52,880,672 (GRCm38) nonsense probably null
R1199:Akap6 UTSW 12 52,796,190 (GRCm38) missense probably damaging 1.00
R1295:Akap6 UTSW 12 52,887,029 (GRCm38) missense probably damaging 1.00
R1389:Akap6 UTSW 12 53,139,520 (GRCm38) missense probably benign 0.15
R1471:Akap6 UTSW 12 53,141,496 (GRCm38) missense probably benign 0.05
R1483:Akap6 UTSW 12 52,796,087 (GRCm38) missense probably damaging 1.00
R1512:Akap6 UTSW 12 52,937,154 (GRCm38) missense probably damaging 1.00
R1648:Akap6 UTSW 12 53,142,006 (GRCm38) nonsense probably null
R1791:Akap6 UTSW 12 53,069,125 (GRCm38) missense probably damaging 1.00
R1888:Akap6 UTSW 12 53,142,175 (GRCm38) missense possibly damaging 0.88
R1888:Akap6 UTSW 12 53,142,175 (GRCm38) missense possibly damaging 0.88
R1891:Akap6 UTSW 12 53,142,175 (GRCm38) missense possibly damaging 0.88
R1899:Akap6 UTSW 12 53,141,852 (GRCm38) missense possibly damaging 0.95
R1917:Akap6 UTSW 12 53,104,612 (GRCm38) missense probably benign 0.13
R1970:Akap6 UTSW 12 52,938,475 (GRCm38) missense probably damaging 0.96
R1987:Akap6 UTSW 12 53,140,795 (GRCm38) missense possibly damaging 0.78
R1988:Akap6 UTSW 12 53,140,795 (GRCm38) missense possibly damaging 0.78
R2153:Akap6 UTSW 12 53,141,404 (GRCm38) missense probably benign 0.03
R2567:Akap6 UTSW 12 52,938,373 (GRCm38) missense probably damaging 1.00
R2568:Akap6 UTSW 12 52,887,278 (GRCm38) missense possibly damaging 0.77
R3025:Akap6 UTSW 12 53,140,143 (GRCm38) missense probably benign
R3051:Akap6 UTSW 12 52,887,033 (GRCm38) missense probably damaging 1.00
R3195:Akap6 UTSW 12 53,072,457 (GRCm38) nonsense probably null
R3196:Akap6 UTSW 12 53,072,457 (GRCm38) nonsense probably null
R3426:Akap6 UTSW 12 52,888,034 (GRCm38) missense probably damaging 1.00
R3783:Akap6 UTSW 12 52,880,769 (GRCm38) missense probably damaging 1.00
R3934:Akap6 UTSW 12 53,140,444 (GRCm38) missense possibly damaging 0.92
R3936:Akap6 UTSW 12 53,140,444 (GRCm38) missense possibly damaging 0.92
R3967:Akap6 UTSW 12 53,141,453 (GRCm38) missense probably damaging 1.00
R3970:Akap6 UTSW 12 53,141,453 (GRCm38) missense probably damaging 1.00
R4042:Akap6 UTSW 12 53,139,379 (GRCm38) critical splice acceptor site probably null
R4095:Akap6 UTSW 12 53,139,462 (GRCm38) missense probably damaging 1.00
R4152:Akap6 UTSW 12 53,140,407 (GRCm38) missense probably benign 0.45
R4231:Akap6 UTSW 12 53,141,038 (GRCm38) missense probably damaging 1.00
R4232:Akap6 UTSW 12 53,139,671 (GRCm38) missense probably damaging 1.00
R4233:Akap6 UTSW 12 53,139,671 (GRCm38) missense probably damaging 1.00
R4234:Akap6 UTSW 12 53,139,671 (GRCm38) missense probably damaging 1.00
R4235:Akap6 UTSW 12 53,139,671 (GRCm38) missense probably damaging 1.00
R4236:Akap6 UTSW 12 53,139,671 (GRCm38) missense probably damaging 1.00
R4475:Akap6 UTSW 12 53,141,643 (GRCm38) missense probably benign 0.00
R4513:Akap6 UTSW 12 52,796,004 (GRCm38) missense probably benign 0.03
R4686:Akap6 UTSW 12 52,887,623 (GRCm38) frame shift probably null
R4724:Akap6 UTSW 12 52,795,885 (GRCm38) missense possibly damaging 0.80
R4782:Akap6 UTSW 12 52,887,623 (GRCm38) frame shift probably null
R4852:Akap6 UTSW 12 53,104,675 (GRCm38) missense probably damaging 1.00
R5024:Akap6 UTSW 12 53,142,562 (GRCm38) missense probably benign 0.01
R5116:Akap6 UTSW 12 53,141,515 (GRCm38) missense probably benign 0.01
R5164:Akap6 UTSW 12 53,142,466 (GRCm38) missense probably benign
R5225:Akap6 UTSW 12 52,886,546 (GRCm38) missense probably damaging 1.00
R5269:Akap6 UTSW 12 53,139,843 (GRCm38) missense probably damaging 0.99
R5352:Akap6 UTSW 12 52,796,097 (GRCm38) missense probably damaging 1.00
R5496:Akap6 UTSW 12 53,140,653 (GRCm38) missense possibly damaging 0.87
R5551:Akap6 UTSW 12 52,795,964 (GRCm38) missense probably damaging 1.00
R5997:Akap6 UTSW 12 52,937,233 (GRCm38) critical splice donor site probably null
R6137:Akap6 UTSW 12 53,140,354 (GRCm38) missense probably damaging 1.00
R6151:Akap6 UTSW 12 53,025,792 (GRCm38) missense probably damaging 1.00
R6169:Akap6 UTSW 12 53,142,358 (GRCm38) missense probably benign
R6307:Akap6 UTSW 12 53,141,568 (GRCm38) missense possibly damaging 0.85
R6351:Akap6 UTSW 12 53,142,025 (GRCm38) missense probably damaging 0.98
R6479:Akap6 UTSW 12 53,141,169 (GRCm38) missense probably damaging 1.00
R6502:Akap6 UTSW 12 53,140,215 (GRCm38) missense probably damaging 1.00
R6760:Akap6 UTSW 12 53,139,778 (GRCm38) missense probably damaging 1.00
R6778:Akap6 UTSW 12 53,025,816 (GRCm38) missense probably damaging 1.00
R6837:Akap6 UTSW 12 53,141,262 (GRCm38) missense probably damaging 1.00
R6896:Akap6 UTSW 12 52,887,494 (GRCm38) missense probably benign 0.06
R6917:Akap6 UTSW 12 53,069,168 (GRCm38) missense probably null 0.97
R6983:Akap6 UTSW 12 52,887,653 (GRCm38) missense probably damaging 1.00
R7142:Akap6 UTSW 12 52,887,364 (GRCm38) missense probably benign 0.02
R7143:Akap6 UTSW 12 52,887,364 (GRCm38) missense probably benign 0.02
R7216:Akap6 UTSW 12 53,140,457 (GRCm38) missense probably benign 0.02
R7297:Akap6 UTSW 12 52,887,364 (GRCm38) missense probably benign 0.02
R7356:Akap6 UTSW 12 52,911,864 (GRCm38) missense probably damaging 1.00
R7378:Akap6 UTSW 12 53,142,574 (GRCm38) missense probably benign 0.00
R7382:Akap6 UTSW 12 53,142,171 (GRCm38) missense probably benign 0.00
R7498:Akap6 UTSW 12 53,142,705 (GRCm38) nonsense probably null
R7542:Akap6 UTSW 12 53,069,234 (GRCm38) missense probably damaging 1.00
R7589:Akap6 UTSW 12 53,142,063 (GRCm38) nonsense probably null
R7676:Akap6 UTSW 12 52,886,850 (GRCm38) missense possibly damaging 0.94
R7814:Akap6 UTSW 12 53,140,961 (GRCm38) missense probably benign 0.28
R7971:Akap6 UTSW 12 53,139,795 (GRCm38) missense probably damaging 1.00
R8039:Akap6 UTSW 12 53,141,676 (GRCm38) missense probably benign 0.00
R8425:Akap6 UTSW 12 52,886,621 (GRCm38) missense probably benign 0.00
R8747:Akap6 UTSW 12 53,142,216 (GRCm38) missense probably benign 0.01
R8885:Akap6 UTSW 12 53,141,536 (GRCm38) missense probably benign
R8956:Akap6 UTSW 12 53,140,344 (GRCm38) missense probably benign 0.00
R8989:Akap6 UTSW 12 52,880,871 (GRCm38) missense probably damaging 1.00
R9014:Akap6 UTSW 12 53,139,620 (GRCm38) missense possibly damaging 0.60
R9031:Akap6 UTSW 12 53,142,048 (GRCm38) missense probably benign 0.36
R9216:Akap6 UTSW 12 52,880,885 (GRCm38) missense probably benign 0.05
R9220:Akap6 UTSW 12 53,140,449 (GRCm38) missense possibly damaging 0.49
R9243:Akap6 UTSW 12 53,141,252 (GRCm38) missense probably benign 0.08
R9286:Akap6 UTSW 12 53,072,471 (GRCm38) missense possibly damaging 0.90
R9347:Akap6 UTSW 12 53,069,111 (GRCm38) missense probably damaging 1.00
R9475:Akap6 UTSW 12 53,010,552 (GRCm38) missense probably damaging 1.00
R9509:Akap6 UTSW 12 53,142,238 (GRCm38) missense probably damaging 0.99
R9523:Akap6 UTSW 12 52,795,889 (GRCm38) missense probably benign 0.02
R9600:Akap6 UTSW 12 52,886,558 (GRCm38) missense probably benign 0.04
R9612:Akap6 UTSW 12 52,911,907 (GRCm38) missense probably damaging 1.00
R9627:Akap6 UTSW 12 53,104,630 (GRCm38) missense
R9666:Akap6 UTSW 12 53,141,535 (GRCm38) missense probably benign
R9784:Akap6 UTSW 12 53,141,070 (GRCm38) missense probably damaging 1.00
X0062:Akap6 UTSW 12 53,142,361 (GRCm38) missense probably benign 0.43
Z1176:Akap6 UTSW 12 53,140,444 (GRCm38) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TTGAGGTAACTTACGCAGTGCCC -3'
(R):5'- AATGGTCAGCTTGAGGCTTAACCC -3'

Sequencing Primer
(F):5'- caacccaacccaaaccaaac -3'
(R):5'- AGGCTTAACCCCATTAGAGCTTG -3'
Posted On 2013-07-30