Incidental Mutation 'IGL02731:Akap10'
ID305473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene NameA kinase (PRKA) anchor protein 10
SynonymsB130049N18Rik, 1500031L16Rik, D-AKAP2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.724) question?
Stock #IGL02731
Quality Score
Status
Chromosome11
Chromosomal Location61871307-61930252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61893476 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 515 (D515E)
Ref Sequence ENSEMBL: ENSMUSP00000104350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058173] [ENSMUST00000102650] [ENSMUST00000108710]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058173
AA Change: D436E

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: D436E

DomainStartEndE-ValueType
RGS 46 290 1.82e-30 SMART
RGS 300 426 9.62e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102650
AA Change: D515E

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: D515E

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 possibly damaging
Transcript: ENSMUST00000108710
AA Change: D515E

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: D515E

DomainStartEndE-ValueType
RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13b A T 11: 77,476,219 S9R probably damaging Het
Ano9 G A 7: 141,107,204 A374V probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep78 T A 19: 15,956,306 H636L probably benign Het
Chd2 A G 7: 73,493,456 V563A probably damaging Het
Cndp1 G T 18: 84,631,958 D203E probably damaging Het
Col16a1 G A 4: 130,053,530 probably benign Het
Copa T C 1: 172,102,218 V284A possibly damaging Het
Dlec1 A G 9: 119,147,120 T1656A probably benign Het
Dopey1 T C 9: 86,487,381 I89T probably damaging Het
Eif2ak4 T C 2: 118,388,814 S36P probably benign Het
Ep300 A T 15: 81,648,414 I1618F unknown Het
Fan1 G A 7: 64,372,993 L171F possibly damaging Het
Fancm A G 12: 65,088,305 T291A probably benign Het
Gm14325 T C 2: 177,832,986 K101R probably damaging Het
Hmx3 A T 7: 131,543,963 probably null Het
Htt G T 5: 34,803,793 V255L probably benign Het
L3mbtl3 C T 10: 26,344,176 probably null Het
Lmbr1l A G 15: 98,917,896 L9P probably damaging Het
Lyzl6 A T 11: 103,635,077 Y72* probably null Het
Mib1 A G 18: 10,800,115 E818G possibly damaging Het
Neb T C 2: 52,160,703 T6405A probably damaging Het
Npas3 A G 12: 54,067,795 D482G probably benign Het
Nuak2 C A 1: 132,316,357 A43E probably damaging Het
Olfr1123 G A 2: 87,418,707 V220I probably benign Het
Olfr1242 T C 2: 89,493,457 Y285C probably damaging Het
Olfr1289 A T 2: 111,483,528 I33L probably benign Het
Olfr1434 T C 19: 12,283,842 S265P probably damaging Het
Pde11a C A 2: 75,991,239 A899S probably benign Het
Ppfibp2 A T 7: 107,746,422 I884F possibly damaging Het
Pus7l A G 15: 94,523,464 V655A probably benign Het
Rad51ap2 A G 12: 11,456,896 D273G probably damaging Het
Rc3h2 T C 2: 37,382,811 D751G probably benign Het
Sdk1 C T 5: 142,172,544 A1863V probably damaging Het
Spns3 T C 11: 72,529,577 Y361C probably damaging Het
Srp72 T A 5: 76,994,215 I372N probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tcf20 A G 15: 82,853,237 S1338P probably benign Het
Tcte1 G A 17: 45,539,886 V363I probably benign Het
Vmn1r42 T C 6: 89,845,425 K54R probably benign Het
Vps13b A G 15: 35,917,128 N3706S probably benign Het
Vwde T C 6: 13,192,614 Y430C probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Zfp959 G A 17: 55,895,956 probably benign Het
Other mutations in Akap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Akap10 APN 11 61915071 missense possibly damaging 0.85
IGL00971:Akap10 APN 11 61904796 missense possibly damaging 0.68
IGL01510:Akap10 APN 11 61878020 missense possibly damaging 0.74
IGL03289:Akap10 APN 11 61877968 splice site probably benign
IGL03294:Akap10 APN 11 61877353 missense probably damaging 1.00
IGL03403:Akap10 APN 11 61915273 missense probably benign 0.00
P4748:Akap10 UTSW 11 61873020 missense possibly damaging 0.86
R0924:Akap10 UTSW 11 61904863 splice site probably benign
R1324:Akap10 UTSW 11 61915021 splice site probably null
R2117:Akap10 UTSW 11 61890303 missense possibly damaging 0.73
R2243:Akap10 UTSW 11 61915501 missense possibly damaging 0.56
R2402:Akap10 UTSW 11 61915222 missense probably benign
R2567:Akap10 UTSW 11 61893349 intron probably benign
R3745:Akap10 UTSW 11 61915305 missense probably benign
R5124:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R5126:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R5180:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R5219:Akap10 UTSW 11 61922791 missense probably benign
R5324:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R6753:Akap10 UTSW 11 61886777 missense probably damaging 0.96
R7121:Akap10 UTSW 11 61886698 critical splice donor site probably null
R7763:Akap10 UTSW 11 61915505 missense probably damaging 1.00
R7867:Akap10 UTSW 11 61900446 missense probably damaging 1.00
R7950:Akap10 UTSW 11 61900446 missense probably damaging 1.00
Posted On2015-04-16