Incidental Mutation 'R1917:Akap6'
ID 212631
Institutional Source Beutler Lab
Gene Symbol Akap6
Ensembl Gene ENSMUSG00000061603
Gene Name A kinase (PRKA) anchor protein 6
Synonyms
MMRRC Submission 039935-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R1917 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 52699383-53155599 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53104612 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1153 (N1153S)
Ref Sequence ENSEMBL: ENSMUSP00000093406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095737] [ENSMUST00000219786]
AlphaFold E9Q9K8
Predicted Effect probably benign
Transcript: ENSMUST00000095737
AA Change: N1153S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: N1153S

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 benign
Transcript: ENSMUST00000219786
AA Change: N1153S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.6%
Validation Efficiency 100% (83/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,039 (GRCm38) S473P probably benign Het
Abca8a A G 11: 110,091,515 (GRCm38) probably benign Het
Adgre5 A G 8: 83,729,109 (GRCm38) V190A probably damaging Het
Aldh1a7 G A 19: 20,727,455 (GRCm38) H20Y probably benign Het
B430306N03Rik A G 17: 48,324,148 (GRCm38) E278G probably benign Het
Cacna1b C A 2: 24,616,879 (GRCm38) R72L probably null Het
Cc2d2a C G 5: 43,706,222 (GRCm38) S675R probably damaging Het
Ccdc88b T A 19: 6,849,226 (GRCm38) E1040D probably damaging Het
Cmtm7 A G 9: 114,763,364 (GRCm38) V55A probably damaging Het
Coq4 A C 2: 29,789,926 (GRCm38) T77P probably damaging Het
Cyp2j11 C A 4: 96,339,974 (GRCm38) W136L probably damaging Het
Dctn2 T A 10: 127,275,049 (GRCm38) Y86* probably null Het
Ddx56 A G 11: 6,263,937 (GRCm38) probably null Het
Dopey2 T C 16: 93,716,262 (GRCm38) S30P probably damaging Het
Ep400 T C 5: 110,703,575 (GRCm38) K1347R unknown Het
Fat3 T A 9: 15,997,057 (GRCm38) T2550S possibly damaging Het
Fcrla G T 1: 170,927,526 (GRCm38) C5* probably null Het
Fermt1 T A 2: 132,922,842 (GRCm38) D365V probably damaging Het
Fhod3 A G 18: 24,989,965 (GRCm38) probably benign Het
Fhod3 A G 18: 25,085,601 (GRCm38) D807G probably benign Het
Fnip1 C T 11: 54,480,684 (GRCm38) T177I probably damaging Het
Gart T C 16: 91,628,149 (GRCm38) Y662C probably damaging Het
Gda A T 19: 21,397,640 (GRCm38) probably benign Het
Gk A G X: 85,760,580 (GRCm38) I85T probably damaging Het
Gm12169 A G 11: 46,528,531 (GRCm38) D58G possibly damaging Het
Gm14548 C T 7: 3,897,638 (GRCm38) V38M probably damaging Het
Gm3476 A G 14: 6,118,358 (GRCm38) L255P possibly damaging Het
Gm9966 T C 7: 95,958,477 (GRCm38) C2R unknown Het
Gnpda1 T C 18: 38,333,190 (GRCm38) probably null Het
Gtf2h4 G A 17: 35,670,198 (GRCm38) L246F possibly damaging Het
Hao1 A T 2: 134,523,060 (GRCm38) S216T probably benign Het
Hnrnpr C A 4: 136,332,488 (GRCm38) S301* probably null Het
Hsd3b2 A G 3: 98,712,026 (GRCm38) I201T probably benign Het
Jade2 T C 11: 51,818,538 (GRCm38) E548G possibly damaging Het
Katnbl1 T C 2: 112,409,179 (GRCm38) I241T probably benign Het
Keap1 G T 9: 21,233,806 (GRCm38) Q299K probably benign Het
Kif1a T C 1: 93,019,031 (GRCm38) I1650V possibly damaging Het
Lrba G A 3: 86,664,501 (GRCm38) G275R probably damaging Het
Map3k9 C A 12: 81,780,790 (GRCm38) E29* probably null Het
Mat1a G A 14: 41,121,437 (GRCm38) V307I probably damaging Het
Mcm2 A T 6: 88,891,803 (GRCm38) M324K possibly damaging Het
Metap1d T C 2: 71,511,527 (GRCm38) V155A probably damaging Het
Mtbp A G 15: 55,564,677 (GRCm38) probably benign Het
Myh14 T C 7: 44,657,925 (GRCm38) T231A probably benign Het
Mylk4 A T 13: 32,724,853 (GRCm38) D90E probably benign Het
Myo15b T A 11: 115,882,254 (GRCm38) I1837K possibly damaging Het
Myo3a T A 2: 22,291,922 (GRCm38) H242Q probably damaging Het
Nxn A G 11: 76,261,672 (GRCm38) probably benign Het
Olfr791 T A 10: 129,527,049 (GRCm38) V274D probably damaging Het
Pak3 C A X: 143,791,302 (GRCm38) A553E possibly damaging Het
Pdia2 T A 17: 26,198,105 (GRCm38) T122S possibly damaging Het
Plod2 A G 9: 92,581,257 (GRCm38) T132A probably benign Het
Ptprz1 T A 6: 23,035,040 (GRCm38) probably benign Het
Rad54b A C 4: 11,601,693 (GRCm38) N416T probably damaging Het
Recql4 A T 15: 76,703,837 (GRCm38) Y1142* probably null Het
Rnf216 A G 5: 142,992,806 (GRCm38) V859A probably benign Het
Scnm1 G T 3: 95,130,273 (GRCm38) P161T possibly damaging Het
Serpinb6b A G 13: 32,978,240 (GRCm38) I222V probably benign Het
Serpinf1 A G 11: 75,411,007 (GRCm38) I274T possibly damaging Het
Slc28a1 T C 7: 81,169,586 (GRCm38) F641L probably benign Het
Slc8a2 A G 7: 16,152,920 (GRCm38) I657V probably benign Het
Smchd1 A G 17: 71,407,237 (GRCm38) I877T possibly damaging Het
Spata31 T C 13: 64,920,865 (GRCm38) Y276H possibly damaging Het
Spire2 A G 8: 123,363,071 (GRCm38) D447G probably benign Het
Stk3 G A 15: 35,073,217 (GRCm38) T119I probably damaging Het
Stxbp5 C A 10: 9,812,298 (GRCm38) V420F possibly damaging Het
Sult2a5 T C 7: 13,670,684 (GRCm38) F282S probably damaging Het
Syk A T 13: 52,622,708 (GRCm38) D248V probably damaging Het
Thoc6 C T 17: 23,669,390 (GRCm38) probably benign Het
Tll2 T A 19: 41,128,497 (GRCm38) D293V possibly damaging Het
Umodl1 G A 17: 30,984,043 (GRCm38) V457M probably damaging Het
Usp19 T A 9: 108,499,325 (GRCm38) C689* probably null Het
Usp24 T G 4: 106,410,286 (GRCm38) V1955G probably damaging Het
Vmn1r226 T C 17: 20,687,580 (GRCm38) S25P probably damaging Het
Vmn2r69 C T 7: 85,411,683 (GRCm38) C231Y probably damaging Het
Wdr73 C T 7: 80,893,333 (GRCm38) D176N probably benign Het
Wnt7b T A 15: 85,559,080 (GRCm38) I41F probably damaging Het
Zfhx3 T C 8: 108,956,248 (GRCm38) S3440P unknown Het
Zfp52 T G 17: 21,560,164 (GRCm38) N91K probably benign Het
Zfp930 C A 8: 69,228,705 (GRCm38) Q350K probably benign Het
Zfp949 T C 9: 88,570,062 (GRCm38) S562P 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
R0666:Akap6 UTSW 12 52,911,808 (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
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'- TGCCCTTAGTGTTACAAGCTG -3'
(R):5'- GCCCAAATCCTAGGGGTATG -3'

Sequencing Primer
(F):5'- GTGTTACAAGCTGAGCATATCCC -3'
(R):5'- CCCAAATCCTAGGGGTATGTGTTTG -3'
Posted On 2014-07-14