Incidental Mutation 'R6753:Akap10'
ID 530909
Institutional Source Beutler Lab
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene Name A kinase (PRKA) anchor protein 10
Synonyms B130049N18Rik, 1500031L16Rik, D-AKAP2
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.761) question?
Stock # R6753 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61871307-61930252 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61886777 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 586 (M586K)
Ref Sequence ENSEMBL: ENSMUSP00000099710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058173] [ENSMUST00000102650] [ENSMUST00000108710]
AlphaFold O88845
Predicted Effect probably benign
Transcript: ENSMUST00000058173
SMART Domains Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804

RGS 46 290 1.82e-30 SMART
RGS 300 426 9.62e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102650
AA Change: M586K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: M586K

RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
PDB:3TMH|L 623 662 2e-18 PDB
Blast:S_TKc 636 661 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000108710
SMART Domains Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804

RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. It has been reported that this protein is important for maintaining heart rate and myocardial contractility through its targeting of protein kinase A. In mouse, defects of this gene lead to cardiac arrhythmias and premature death. In humans, polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele display sinus arrhythmia, sinus pauses, and atrioventricular heart block indicating excessive vagus nerve sensitivity; about 50% of homozygous and 25% of heterozygous mutant mice die in the first year of life, and survival is sensitive to genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,010,151 (GRCm38) P1083S probably benign Het
Abcb5 T A 12: 118,944,906 (GRCm38) N101I possibly damaging Het
Adrb2 A G 18: 62,179,553 (GRCm38) V67A possibly damaging Het
Agk T A 6: 40,368,570 (GRCm38) probably null Het
Akt3 A T 1: 177,050,190 (GRCm38) Y337* probably null Het
Armc1 A G 3: 19,144,398 (GRCm38) F133L possibly damaging Het
Bank1 T C 3: 136,093,308 (GRCm38) E424G probably damaging Het
Cacna1a A G 8: 84,580,205 (GRCm38) E1363G probably damaging Het
Cacna1d C A 14: 30,042,786 (GRCm38) A2076S probably damaging Het
Ccdc73 T A 2: 104,991,524 (GRCm38) L606* probably null Het
Ccdc8 C T 7: 16,996,637 (GRCm38) Q684* probably null Het
Ces1b T A 8: 93,067,020 (GRCm38) K314* probably null Het
Ces1e T A 8: 93,215,128 (GRCm38) N238I probably damaging Het
Chd4 A G 6: 125,114,300 (GRCm38) N1238S probably benign Het
Cmtr2 T A 8: 110,222,979 (GRCm38) D640E probably damaging Het
Col7a1 C T 9: 108,958,128 (GRCm38) T559I unknown Het
Comt T C 16: 18,408,021 (GRCm38) K205R probably benign Het
Dbp A T 7: 45,708,404 (GRCm38) E232V probably damaging Het
Dcbld2 A G 16: 58,456,130 (GRCm38) T470A possibly damaging Het
Eml6 T A 11: 29,754,987 (GRCm38) D1519V probably damaging Het
Evpl T A 11: 116,237,906 (GRCm38) H31L possibly damaging Het
Exoc1 T A 5: 76,563,339 (GRCm38) I86N probably damaging Het
Fat3 C T 9: 15,915,061 (GRCm38) E4532K possibly damaging Het
Fgfr3 T C 5: 33,732,159 (GRCm38) S301P probably benign Het
Gas2l1 C T 11: 5,064,254 (GRCm38) V69I probably damaging Het
Gm2042 T A 12: 87,958,084 (GRCm38) I107K probably damaging Het
Gucy1b1 T C 3: 82,039,747 (GRCm38) D385G probably null Het
Ints1 T A 5: 139,765,175 (GRCm38) E824D probably damaging Het
Itfg1 T C 8: 85,835,078 (GRCm38) D142G probably benign Het
Jaml A G 9: 45,107,379 (GRCm38) N359D probably benign Het
Kcnh7 T A 2: 62,850,377 (GRCm38) I289L probably benign Het
Klf12 G A 14: 100,109,776 (GRCm38) Q40* probably null Het
Mcm4 A C 16: 15,629,362 (GRCm38) N579K possibly damaging Het
Mfsd2b A T 12: 4,867,358 (GRCm38) F179I possibly damaging Het
Mmp11 C T 10: 75,928,374 (GRCm38) V86M probably damaging Het
Mogs T C 6: 83,115,882 (GRCm38) V101A probably damaging Het
Narf T A 11: 121,242,626 (GRCm38) H84Q probably benign Het
Olfr987 C A 2: 85,331,798 (GRCm38) M33I probably benign Het
Otog A C 7: 46,249,071 (GRCm38) E204D probably benign Het
Parp8 G A 13: 116,895,115 (GRCm38) H354Y possibly damaging Het
Pcnx C A 12: 81,964,480 (GRCm38) D1238E probably damaging Het
Pi4ka A G 16: 17,376,982 (GRCm38) L184P possibly damaging Het
Pkd1l3 C T 8: 109,624,449 (GRCm38) T642I probably damaging Het
Pkhd1l1 G A 15: 44,589,663 (GRCm38) E3995K probably benign Het
Prdm9 A T 17: 15,544,956 (GRCm38) Y521N probably benign Het
Prex2 A G 1: 11,184,456 (GRCm38) S1105G probably damaging Het
Prss35 T A 9: 86,756,100 (GRCm38) F308I probably damaging Het
Rab22a C T 2: 173,701,055 (GRCm38) A167V probably benign Het
Rims2 A G 15: 39,566,973 (GRCm38) Q871R possibly damaging Het
Rorb A T 19: 18,957,247 (GRCm38) M253K probably benign Het
Ryr3 T C 2: 112,652,610 (GRCm38) D4269G probably damaging Het
Snx11 T C 11: 96,769,906 (GRCm38) probably benign Het
Son A G 16: 91,657,188 (GRCm38) Q941R probably damaging Het
Sptbn2 G T 19: 4,747,785 (GRCm38) R1880L probably benign Het
Sun1 G A 5: 139,215,259 (GRCm38) probably null Het
Tprn A G 2: 25,264,038 (GRCm38) R451G probably benign Het
Trbv30 T A 6: 41,281,377 (GRCm38) M1K probably null Het
Ttn C A 2: 76,738,221 (GRCm38) G25697W probably damaging Het
Ubb T G 11: 62,551,527 (GRCm38) probably null Het
Unc13b C T 4: 43,239,331 (GRCm38) R1038C probably damaging Het
Usp7 T C 16: 8,696,911 (GRCm38) M687V probably benign Het
Zfp160 G A 17: 21,020,734 (GRCm38) M21I probably benign Het
Zfp868 T C 8: 69,612,096 (GRCm38) N196S probably benign Het
Zufsp A T 10: 33,928,029 (GRCm38) I483N probably damaging Het
Other mutations in Akap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Akap10 APN 11 61,915,071 (GRCm38) missense possibly damaging 0.85
IGL00971:Akap10 APN 11 61,904,796 (GRCm38) missense possibly damaging 0.68
IGL01510:Akap10 APN 11 61,878,020 (GRCm38) missense possibly damaging 0.74
IGL02731:Akap10 APN 11 61,893,476 (GRCm38) missense possibly damaging 0.78
IGL03289:Akap10 APN 11 61,877,968 (GRCm38) splice site probably benign
IGL03294:Akap10 APN 11 61,877,353 (GRCm38) missense probably damaging 1.00
IGL03403:Akap10 APN 11 61,915,273 (GRCm38) missense probably benign 0.00
P4748:Akap10 UTSW 11 61,873,020 (GRCm38) missense possibly damaging 0.86
R0924:Akap10 UTSW 11 61,904,863 (GRCm38) splice site probably benign
R1324:Akap10 UTSW 11 61,915,021 (GRCm38) splice site probably null
R2117:Akap10 UTSW 11 61,890,303 (GRCm38) missense possibly damaging 0.73
R2243:Akap10 UTSW 11 61,915,501 (GRCm38) missense possibly damaging 0.56
R2402:Akap10 UTSW 11 61,915,222 (GRCm38) missense probably benign
R2567:Akap10 UTSW 11 61,893,349 (GRCm38) intron probably benign
R3745:Akap10 UTSW 11 61,915,305 (GRCm38) missense probably benign
R5124:Akap10 UTSW 11 61,916,189 (GRCm38) missense probably damaging 1.00
R5126:Akap10 UTSW 11 61,916,189 (GRCm38) missense probably damaging 1.00
R5180:Akap10 UTSW 11 61,916,189 (GRCm38) missense probably damaging 1.00
R5219:Akap10 UTSW 11 61,922,791 (GRCm38) missense probably benign
R5324:Akap10 UTSW 11 61,916,189 (GRCm38) missense probably damaging 1.00
R7121:Akap10 UTSW 11 61,886,698 (GRCm38) critical splice donor site probably null
R7763:Akap10 UTSW 11 61,915,505 (GRCm38) missense probably damaging 1.00
R7867:Akap10 UTSW 11 61,900,446 (GRCm38) missense probably damaging 1.00
R7986:Akap10 UTSW 11 61,930,064 (GRCm38) missense probably damaging 1.00
R8079:Akap10 UTSW 11 61,930,054 (GRCm38) missense possibly damaging 0.93
R9321:Akap10 UTSW 11 61,900,409 (GRCm38) missense probably damaging 1.00
R9732:Akap10 UTSW 11 61,896,719 (GRCm38) missense probably damaging 1.00
Z1186:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Z1187:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Z1188:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Z1189:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Z1190:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Z1191:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Z1192:Akap10 UTSW 11 61,915,270 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-08-01