Incidental Mutation 'R0189:Akap6'
ID 23133
Institutional Source Beutler Lab
Gene Symbol Akap6
Ensembl Gene ENSMUSG00000061603
Gene Name A kinase anchor protein 6
Synonyms
MMRRC Submission 038450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.754) question?
Stock # R0189 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 52746166-53202382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53188037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1817 (V1817A)
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: V1817A

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: V1817A

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
Meta Mutation Damage Score 0.0676 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.1%
Validation Efficiency 98% (96/98)
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
Abca9 A T 11: 109,999,479 (GRCm39) W1459R probably damaging Het
Abca9 A T 11: 110,032,488 (GRCm39) probably benign Het
Adam25 T A 8: 41,208,467 (GRCm39) C578S probably damaging Het
Adam32 T A 8: 25,412,353 (GRCm39) probably null Het
Add1 T C 5: 34,773,992 (GRCm39) V67A probably benign Het
Aggf1 A T 13: 95,492,988 (GRCm39) probably benign Het
Ahcyl2 A T 6: 29,891,242 (GRCm39) I449F probably benign Het
Ak6 A G 13: 100,791,650 (GRCm39) Y31C probably damaging Het
Arhgef17 G T 7: 100,578,057 (GRCm39) P964T probably damaging Het
Atxn7l3b A T 10: 112,764,485 (GRCm39) L48Q possibly damaging Het
Bbs10 T G 10: 111,136,926 (GRCm39) S680A probably damaging Het
Bcl7c G A 7: 127,304,936 (GRCm39) T164I probably damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Ccdc110 T A 8: 46,388,119 (GRCm39) D25E probably damaging Het
Ccdc83 T A 7: 89,875,891 (GRCm39) T327S possibly damaging Het
Coro1b T C 19: 4,203,250 (GRCm39) Y364H probably damaging Het
Cstf3 A G 2: 104,482,791 (GRCm39) D313G probably damaging Het
Dlgap5 T A 14: 47,650,432 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,547 (GRCm39) I83N probably damaging Het
Eea1 A T 10: 95,831,444 (GRCm39) K178N possibly damaging Het
Efr3b T A 12: 4,032,925 (GRCm39) D144V probably damaging Het
Gfus C A 15: 75,798,827 (GRCm39) D127Y probably damaging Het
Gm1110 T A 9: 26,794,514 (GRCm39) E504V probably null Het
Got2 T C 8: 96,614,881 (GRCm39) H18R probably benign Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Has2 A T 15: 56,531,831 (GRCm39) F295I probably damaging Het
Hcn3 T C 3: 89,056,107 (GRCm39) D519G probably damaging Het
Ino80 T A 2: 119,210,160 (GRCm39) D1377V probably benign Het
Iqsec3 A T 6: 121,390,521 (GRCm39) probably benign Het
Kif3c T A 12: 3,415,989 (GRCm39) S3R probably benign Het
Krt17 A G 11: 100,151,445 (GRCm39) I116T possibly damaging Het
Lrba T C 3: 86,275,816 (GRCm39) V1728A probably damaging Het
Map3k6 G T 4: 132,974,252 (GRCm39) V550L possibly damaging Het
Mcph1 T C 8: 18,838,487 (GRCm39) V803A probably damaging Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Ms4a20 A G 19: 11,074,311 (GRCm39) V207A possibly damaging Het
Msh5 T C 17: 35,248,630 (GRCm39) E772G probably null Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndfip2 T C 14: 105,542,174 (GRCm39) L308P probably damaging Het
Ndufb10 T C 17: 24,943,209 (GRCm39) T34A probably benign Het
Nipal3 A T 4: 135,195,829 (GRCm39) I258N possibly damaging Het
Nup54 A G 5: 92,570,423 (GRCm39) V328A probably damaging Het
Oprm1 T C 10: 6,739,071 (GRCm39) V66A possibly damaging Het
Or10p21 T A 10: 128,847,191 (GRCm39) F12L possibly damaging Het
Or51ah3 G T 7: 103,210,289 (GRCm39) V202F probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or8b56 T A 9: 38,739,111 (GRCm39) Y41* probably null Het
Or9s14 T C 1: 92,535,615 (GRCm39) F19L probably damaging Het
Peg12 G A 7: 62,113,296 (GRCm39) T267I unknown Het
Phf20 A G 2: 156,145,061 (GRCm39) S890G probably benign Het
Plk2 C T 13: 110,535,997 (GRCm39) T567M probably damaging Het
Pola2 A T 19: 5,992,370 (GRCm39) probably benign Het
Ppp1r12b A G 1: 134,793,514 (GRCm39) probably null Het
Prickle1 A T 15: 93,400,900 (GRCm39) L528* probably null Het
Prpf6 T A 2: 181,297,250 (GRCm39) N903K probably benign Het
Ptprc G A 1: 138,010,453 (GRCm39) A601V probably benign Het
Ranbp1 A T 16: 18,059,607 (GRCm39) probably null Het
Rapgef6 C T 11: 54,582,075 (GRCm39) S1334L probably benign Het
Rgs2 T C 1: 143,878,022 (GRCm39) probably null Het
Ripk2 A T 4: 16,129,125 (GRCm39) probably null Het
Rnf17 A G 14: 56,719,650 (GRCm39) S967G probably null Het
Rock2 T A 12: 17,009,517 (GRCm39) probably benign Het
Rpusd3 C T 6: 113,392,514 (GRCm39) probably null Het
Scgb1b20 G T 7: 33,072,935 (GRCm39) V48L probably benign Het
Sec16a T A 2: 26,314,426 (GRCm39) probably null Het
Serpina5 T A 12: 104,069,589 (GRCm39) L267H probably damaging Het
Slc12a3 C T 8: 95,082,986 (GRCm39) H875Y probably benign Het
Slc45a4 A G 15: 73,453,763 (GRCm39) S745P probably benign Het
Sucla2 T C 14: 73,830,088 (GRCm39) V375A probably damaging Het
Sun2 C A 15: 79,621,277 (GRCm39) V213F probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 C T 6: 7,562,424 (GRCm39) R129C probably damaging Het
Taf6 T C 5: 138,180,975 (GRCm39) E202G probably benign Het
Tex21 T A 12: 76,286,307 (GRCm39) H64L probably benign Het
Tgs1 A G 4: 3,593,620 (GRCm39) S503G probably benign Het
Tmem184c C T 8: 78,324,441 (GRCm39) V350I possibly damaging Het
Tnks1bp1 A G 2: 84,901,273 (GRCm39) S960G possibly damaging Het
Trbc2 T C 6: 41,525,083 (GRCm39) probably benign Het
Tubgcp2 A T 7: 139,581,518 (GRCm39) probably benign Het
Vmn1r39 T A 6: 66,782,181 (GRCm39) T46S probably benign Het
Vmn1r61 T C 7: 5,613,699 (GRCm39) H205R probably benign Het
Zdhhc14 T C 17: 5,775,539 (GRCm39) S264P possibly damaging Het
Zfp101 T A 17: 33,601,213 (GRCm39) H181L possibly damaging 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
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
R1512:Akap6 UTSW 12 52,983,937 (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'- GCTTGCACTGATGACGAAGACGAC -3'
(R):5'- AAGCAAGGTTCGCTGATGCCTCTG -3'

Sequencing Primer
(F):5'- TCTCACCTTGACGGAAGAAG -3'
(R):5'- ACATGTGGATCTTTAGTAACGTCG -3'
Posted On 2013-04-16