Incidental Mutation 'R9321:Akap10'
ID 706220
Institutional Source Beutler Lab
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene Name A kinase anchor protein 10
Synonyms B130049N18Rik, D-AKAP2, 1500031L16Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R9321 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 61762133-61821078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61791235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 408 (F408S)
Ref Sequence ENSEMBL: ENSMUSP00000099710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058173] [ENSMUST00000102650] [ENSMUST00000108710]
AlphaFold O88845
Predicted Effect probably damaging
Transcript: ENSMUST00000058173
AA Change: F329S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: F329S

DomainStartEndE-ValueType
RGS 46 290 1.82e-30 SMART
RGS 300 426 9.62e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102650
AA Change: F408S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: F408S

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000108710
AA Change: F408S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: F408S

DomainStartEndE-ValueType
RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,460,475 (GRCm39) S4162G probably benign Het
Acvr2b T C 9: 119,257,351 (GRCm39) I152T probably benign Het
Adam15 T A 3: 89,254,794 (GRCm39) probably null Het
Adam34 C T 8: 44,105,243 (GRCm39) G134D probably damaging Het
Aifm2 C T 10: 61,571,410 (GRCm39) Q315* probably null Het
Ap3b2 T C 7: 81,114,252 (GRCm39) probably null Het
Btbd2 A C 10: 80,483,675 (GRCm39) V181G probably damaging Het
Carmil3 G T 14: 55,741,425 (GRCm39) G1070V Het
Ceacam2 G T 7: 25,230,089 (GRCm39) D172E possibly damaging Het
Crtc3 G A 7: 80,259,650 (GRCm39) A203V probably benign Het
Dclre1a A G 19: 56,531,100 (GRCm39) S749P probably damaging Het
Dnah2 C T 11: 69,338,939 (GRCm39) probably null Het
Eif2ak4 G A 2: 118,292,798 (GRCm39) V1341M possibly damaging Het
Enpp5 T C 17: 44,393,689 (GRCm39) V295A possibly damaging Het
Gm1110 T A 9: 26,831,891 (GRCm39) M87L probably benign Het
Gm57858 A T 3: 36,073,139 (GRCm39) V381E probably damaging Het
H2-Ab1 T C 17: 34,486,969 (GRCm39) L241P probably damaging Het
Hmx2 A G 7: 131,157,320 (GRCm39) T145A probably benign Het
Irag1 A G 7: 110,524,534 (GRCm39) S138P probably benign Het
Itpripl1 T C 2: 126,984,000 (GRCm39) S41G probably benign Het
Kcnb2 G A 1: 15,779,793 (GRCm39) D222N possibly damaging Het
Ldb3 C A 14: 34,266,099 (GRCm39) G499* probably null Het
Lig1 T C 7: 13,034,935 (GRCm39) F577S probably damaging Het
Lnx1 T C 5: 74,780,991 (GRCm39) I177V probably damaging Het
Mark4 G T 7: 19,170,901 (GRCm39) T323K probably benign Het
Mroh5 A G 15: 73,661,113 (GRCm39) V301A probably benign Het
Mtx3 T A 13: 92,984,097 (GRCm39) W125R probably damaging Het
Myo18a G A 11: 77,733,370 (GRCm39) G1404R probably damaging Het
Myom2 C T 8: 15,172,464 (GRCm39) P1188S possibly damaging Het
Nars1 C T 18: 64,637,950 (GRCm39) E335K probably damaging Het
Nfya A T 17: 48,707,494 (GRCm39) V16E unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Nme5 T G 18: 34,704,597 (GRCm39) I83L probably benign Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nptx1 A G 11: 119,438,378 (GRCm39) L13P unknown Het
Or11g27 G A 14: 50,771,471 (GRCm39) V201I probably benign Het
Or13c25 G T 4: 52,911,314 (GRCm39) T160N probably damaging Het
Or13m2-ps1 T A 6: 42,777,792 (GRCm39) V39D possibly damaging Het
Or4k44 A G 2: 111,368,434 (GRCm39) S67P probably damaging Het
Or5j3 A T 2: 86,128,297 (GRCm39) I46F probably benign Het
Or6d13 T C 6: 116,518,370 (GRCm39) Y319H probably benign Het
Pdzd2 T C 15: 12,386,023 (GRCm39) T916A probably benign Het
Plekha6 A G 1: 133,209,549 (GRCm39) N615S probably damaging Het
Prorp A G 12: 55,351,434 (GRCm39) I248V possibly damaging Het
Rad52 T C 6: 119,889,969 (GRCm39) Y32H probably damaging Het
Slc22a16 T A 10: 40,450,047 (GRCm39) I161N probably damaging Het
Slx4 A G 16: 3,804,654 (GRCm39) M720T probably benign Het
Spem1 T C 11: 69,712,661 (GRCm39) H58R probably benign Het
Spg7 C A 8: 123,803,688 (GRCm39) D239E probably benign Het
Tas2r123 A T 6: 132,825,095 (GRCm39) M331L probably benign Het
Tcaf1 T C 6: 42,656,290 (GRCm39) T229A probably benign Het
Tdrd1 T C 19: 56,848,767 (GRCm39) L939P probably damaging Het
Timd2 T C 11: 46,577,916 (GRCm39) T72A probably benign Het
Tmem179 G T 12: 112,477,390 (GRCm39) N31K probably damaging Het
Tpd52l1 T C 10: 31,214,189 (GRCm39) S165G Het
Tubgcp6 T C 15: 88,992,186 (GRCm39) T600A probably damaging Het
Txlna T A 4: 129,528,246 (GRCm39) E230D probably damaging Het
Ush2a A T 1: 188,089,148 (GRCm39) I368F probably damaging Het
Vmn1r76 A T 7: 11,665,094 (GRCm39) M40K possibly damaging Het
Zfp592 C T 7: 80,691,226 (GRCm39) S1135L possibly damaging Het
Zfp606 A G 7: 12,226,610 (GRCm39) T244A possibly damaging Het
Other mutations in Akap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Akap10 APN 11 61,805,897 (GRCm39) missense possibly damaging 0.85
IGL00971:Akap10 APN 11 61,795,622 (GRCm39) missense possibly damaging 0.68
IGL01510:Akap10 APN 11 61,768,846 (GRCm39) missense possibly damaging 0.74
IGL02731:Akap10 APN 11 61,784,302 (GRCm39) missense possibly damaging 0.78
IGL03289:Akap10 APN 11 61,768,794 (GRCm39) splice site probably benign
IGL03294:Akap10 APN 11 61,768,179 (GRCm39) missense probably damaging 1.00
IGL03403:Akap10 APN 11 61,806,099 (GRCm39) missense probably benign 0.00
P4748:Akap10 UTSW 11 61,763,846 (GRCm39) missense possibly damaging 0.86
R0924:Akap10 UTSW 11 61,795,689 (GRCm39) splice site probably benign
R1324:Akap10 UTSW 11 61,805,847 (GRCm39) splice site probably null
R2117:Akap10 UTSW 11 61,781,129 (GRCm39) missense possibly damaging 0.73
R2243:Akap10 UTSW 11 61,806,327 (GRCm39) missense possibly damaging 0.56
R2402:Akap10 UTSW 11 61,806,048 (GRCm39) missense probably benign
R2567:Akap10 UTSW 11 61,784,175 (GRCm39) intron probably benign
R3745:Akap10 UTSW 11 61,806,131 (GRCm39) missense probably benign
R5124:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R5126:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R5180:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R5219:Akap10 UTSW 11 61,813,617 (GRCm39) missense probably benign
R5324:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R6753:Akap10 UTSW 11 61,777,603 (GRCm39) missense probably damaging 0.96
R7121:Akap10 UTSW 11 61,777,524 (GRCm39) critical splice donor site probably null
R7763:Akap10 UTSW 11 61,806,331 (GRCm39) missense probably damaging 1.00
R7867:Akap10 UTSW 11 61,791,272 (GRCm39) missense probably damaging 1.00
R7986:Akap10 UTSW 11 61,820,890 (GRCm39) missense probably damaging 1.00
R8079:Akap10 UTSW 11 61,820,880 (GRCm39) missense possibly damaging 0.93
R9732:Akap10 UTSW 11 61,787,545 (GRCm39) missense probably damaging 1.00
Z1186:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1187:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1188:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1189:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1190:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1191:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1192:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTGTCTTGTGGACTCACTG -3'
(R):5'- CTGAAGTTTGCATCTCCTGGTAC -3'

Sequencing Primer
(F):5'- CTGTCTTGTGGACTCACTGACAAAG -3'
(R):5'- CTCCCCCGGAAGAATATTTAAACTTG -3'
Posted On 2022-04-18