Incidental Mutation 'R6896:Akap6'
ID 538348
Institutional Source Beutler Lab
Gene Symbol Akap6
Ensembl Gene ENSMUSG00000061603
Gene Name A kinase (PRKA) anchor protein 6
Synonyms
MMRRC Submission 044990-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # R6896 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 52699383-53155599 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52887494 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 590 (I590F)
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: I590F

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: I590F

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: I590F

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.1757 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (49/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,683,313 L454P probably damaging Het
Acadm T C 3: 153,936,320 I192V probably damaging Het
Acadsb T A 7: 131,443,646 Y436N probably benign Het
Ache G A 5: 137,291,734 V442M probably damaging Het
Adam39 A T 8: 40,824,938 N122I possibly damaging Het
Akap8 T C 17: 32,317,331 N36S probably benign Het
Asap2 T C 12: 21,265,525 S933P probably damaging Het
C3 C T 17: 57,220,864 probably null Het
Cdon T A 9: 35,452,106 M1K probably null Het
Cemip T A 7: 83,998,576 I99F probably damaging Het
Cfap58 T G 19: 47,944,187 L130R probably damaging Het
Clca3a2 T C 3: 144,808,701 D415G probably damaging Het
Coch A G 12: 51,602,869 D321G possibly damaging Het
Efcab11 A G 12: 99,883,415 probably benign Het
Ermap G T 4: 119,187,131 S156* probably null Het
Fap G T 2: 62,504,600 Y620* probably null Het
Galntl5 T C 5: 25,189,949 probably null Het
Il21r C A 7: 125,626,956 H76N probably damaging Het
Itpr1 T G 6: 108,481,394 Y2041D probably damaging Het
Megf8 T A 7: 25,329,932 N300K probably benign Het
Muc2 G A 7: 141,752,695 V285I possibly damaging Het
Myh15 A T 16: 49,113,071 Q623L probably benign Het
Myh7b T C 2: 155,622,568 probably null Het
Naaladl1 T A 19: 6,109,305 probably null Het
Nlrp9b T G 7: 20,023,245 F136V probably damaging Het
Olfr1006 A G 2: 85,674,933 Y73H probably damaging Het
Olfr1193 A G 2: 88,677,996 N47S probably damaging Het
Olfr516 T C 7: 108,845,543 T156A probably benign Het
Olfr814 A T 10: 129,874,754 M1K probably null Het
Oprd1 A T 4: 132,117,301 M132K probably damaging Het
Patj T A 4: 98,426,050 V369D possibly damaging Het
Pcdhb3 T C 18: 37,301,212 L77P probably damaging Het
Pcf11 T C 7: 92,649,551 D1259G probably damaging Het
Pdcl A T 2: 37,352,179 H186Q probably damaging Het
Pdzd9 A T 7: 120,662,872 *77R probably null Het
Reln C T 5: 21,899,179 E3265K probably benign Het
Smg8 T C 11: 87,077,961 T990A possibly damaging Het
Smok2a C T 17: 13,225,871 H112Y probably benign Het
Spatc1l G A 10: 76,569,408 R208H probably damaging Het
Taf7 T C 18: 37,642,680 D278G possibly damaging Het
Vipas39 T C 12: 87,242,571 N373S probably benign Het
Vmn2r78 C T 7: 86,922,350 T456I probably benign Het
Vwf T C 6: 125,566,194 S148P probably damaging Het
Wdr60 C T 12: 116,229,671 G554R possibly damaging Het
Wdr66 A G 5: 123,278,358 T565A possibly damaging Het
Xpot A C 10: 121,613,485 probably null Het
Zdbf2 A T 1: 63,308,872 R2137W probably damaging Het
Zfp462 T A 4: 55,009,544 N503K possibly damaging Het
Zfp641 T A 15: 98,293,803 M1L probably benign 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
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
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'- TGGTTCAGGAAAGCAATCCG -3'
(R):5'- TTAGGTTCTCCAGTTTCAGAGC -3'

Sequencing Primer
(F):5'- AATACCAGGAGCTCAGTCGTGC -3'
(R):5'- AGGTTCTCCAGTTTCAGAGCTAACAC -3'
Posted On 2018-11-06