Incidental Mutation 'R7867:Akap10'
ID 607856
Institutional Source Beutler Lab
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene Name A kinase anchor protein 10
Synonyms B130049N18Rik, D-AKAP2, 1500031L16Rik
MMRRC Submission 045919-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R7867 (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 61791272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 396 (Y396H)
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: Y317H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: Y317H

DomainStartEndE-ValueType
RGS 46 290 1.82e-30 SMART
RGS 300 426 9.62e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102650
AA Change: Y396H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: Y396H

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: Y396H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: Y396H

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: 98.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,212,139 (GRCm39) probably null Het
Abcf1 C A 17: 36,272,890 (GRCm39) K252N probably damaging Het
Abi3 C T 11: 95,724,851 (GRCm39) A211T possibly damaging Het
Acaca A T 11: 84,140,350 (GRCm39) D608V possibly damaging Het
Ap3b1 C G 13: 94,619,771 (GRCm39) S778W unknown Het
Arb2a T C 13: 78,050,837 (GRCm39) M165T probably benign Het
Baat G A 4: 49,502,925 (GRCm39) L66F probably benign Het
Cachd1 A G 4: 100,845,759 (GRCm39) N981S probably damaging Het
Cacna1c C T 6: 118,753,407 (GRCm39) R243H Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Cinp A G 12: 110,840,557 (GRCm39) V198A probably benign Het
Clec4d T C 6: 123,244,123 (GRCm39) probably null Het
Cnn3 A G 3: 121,248,704 (GRCm39) I204V probably benign Het
Cpxm2 C A 7: 131,650,800 (GRCm39) G620V probably damaging Het
Ctrl A C 8: 106,659,497 (GRCm39) S93A probably benign Het
Cyp2d34 A G 15: 82,501,425 (GRCm39) V301A possibly damaging Het
Dnaaf5 G T 5: 139,147,565 (GRCm39) K376N probably damaging Het
Eno2 C T 6: 124,740,137 (GRCm39) D300N probably damaging Het
Entrep3 T A 3: 89,093,083 (GRCm39) Y280* probably null Het
Fam117b T A 1: 60,014,046 (GRCm39) N440K probably damaging Het
Fam131a A G 16: 20,514,584 (GRCm39) S62G probably benign Het
Fancm T A 12: 65,163,240 (GRCm39) probably null Het
Fancm A G 12: 65,165,173 (GRCm39) D1506G probably benign Het
Fhad1 C A 4: 141,632,902 (GRCm39) V1201L probably benign Het
Gdpd4 T A 7: 97,623,185 (GRCm39) C265* probably null Het
Gm3127 A T 14: 15,425,888 (GRCm39) T98S probably null Het
Gpsm1 A T 2: 26,230,448 (GRCm39) D466V probably benign Het
Gramd1a T G 7: 30,842,992 (GRCm39) K76Q probably damaging Het
Gstp3 T C 19: 4,108,808 (GRCm39) D24G probably damaging Het
Kalrn G A 16: 33,810,161 (GRCm39) T2531I possibly damaging Het
Klk7 C A 7: 43,462,333 (GRCm39) D108E probably damaging Het
Klkb1 A G 8: 45,740,002 (GRCm39) S97P probably damaging Het
Krt13 T C 11: 100,012,008 (GRCm39) D105G probably damaging Het
Lingo2 T A 4: 35,709,302 (GRCm39) H226L probably benign Het
Lrba T C 3: 86,275,896 (GRCm39) S1755P probably damaging Het
Marf1 A G 16: 13,946,470 (GRCm39) V1217A probably damaging Het
Mtss1 A T 15: 58,842,858 (GRCm39) V118E possibly damaging Het
Mug1 T A 6: 121,850,593 (GRCm39) D696E probably benign Het
Ndufa3 C T 7: 3,623,003 (GRCm39) P56L probably damaging Het
Nop56 T A 2: 130,120,205 (GRCm39) C471S possibly damaging Het
Obscn T A 11: 58,891,652 (GRCm39) H6960L unknown Het
Or13a22 C T 7: 140,073,049 (GRCm39) T166I probably benign Het
Pcdhb10 A C 18: 37,546,619 (GRCm39) Q565P probably benign Het
Pde6g T A 11: 120,338,953 (GRCm39) H79L possibly damaging Het
Phrf1 G T 7: 140,836,524 (GRCm39) M265I unknown Het
Pkd2 T C 5: 104,630,986 (GRCm39) F470S probably damaging Het
Plekhm1 T A 11: 103,271,153 (GRCm39) D446V probably damaging Het
Prkaca A T 8: 84,721,963 (GRCm39) T325S probably benign Het
Proz A T 8: 13,111,027 (GRCm39) probably benign Het
Pten T C 19: 32,792,894 (GRCm39) F238L probably benign Het
Ptpn21 G A 12: 98,671,435 (GRCm39) L198F probably damaging Het
Rbm5 A T 9: 107,628,930 (GRCm39) S394T probably benign Het
Scaf8 T G 17: 3,227,994 (GRCm39) S408A unknown Het
Slc41a3 T A 6: 90,617,909 (GRCm39) F312I probably damaging Het
Soat2 T A 15: 102,059,598 (GRCm39) probably null Het
Sorcs1 C A 19: 50,218,698 (GRCm39) G595* probably null Het
Spopfm1 G C 3: 94,173,154 (GRCm39) S50T probably benign Het
Stox1 G T 10: 62,500,723 (GRCm39) D612E probably benign Het
Suco T C 1: 161,665,365 (GRCm39) I530M possibly damaging Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Thbd G A 2: 148,249,664 (GRCm39) A68V probably damaging Het
Tmem109 A T 19: 10,855,466 (GRCm39) M4K unknown Het
Tmub1 G C 5: 24,651,664 (GRCm39) P85R possibly damaging Het
Tnk2 A C 16: 32,500,053 (GRCm39) Q1039H probably damaging Het
Tpm3 T C 3: 89,993,775 (GRCm39) L89S probably damaging Het
Unc13b C T 4: 43,232,573 (GRCm39) R432* probably null Het
Vmn2r59 T A 7: 41,661,707 (GRCm39) I703F probably damaging Het
Xylt1 T A 7: 117,074,749 (GRCm39) I122N probably benign Het
Zc3h12c T C 9: 52,055,248 (GRCm39) E187G probably 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
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
R9321:Akap10 UTSW 11 61,791,235 (GRCm39) missense probably damaging 1.00
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'- ATCCAGTGCATATAGTGAATGCTC -3'
(R):5'- TGCACTGAAGTTTGCATCTCC -3'

Sequencing Primer
(F):5'- GTGAATGCTCAGAACAACTCACTTG -3'
(R):5'- ACTGAAGTTTGCATCTCCTGGTAC -3'
Posted On 2019-12-20