Incidental Mutation 'R5124:Akap10'
ID 393457
Institutional Source Beutler Lab
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene Name A kinase anchor protein 10
Synonyms B130049N18Rik, D-AKAP2, 1500031L16Rik
MMRRC Submission 042712-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R5124 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 61762133-61821078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61807015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 72 (A72T)
Ref Sequence ENSEMBL: ENSMUSP00000104350 (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

DomainStartEndE-ValueType
RGS 46 290 1.82e-30 SMART
RGS 300 426 9.62e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102650
AA Change: A72T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: A72T

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: A72T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: A72T

DomainStartEndE-ValueType
RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
Meta Mutation Damage Score 0.1185 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,401,289 (GRCm39) I65N probably damaging Het
Adpgk A G 9: 59,222,561 (GRCm39) D496G possibly damaging Het
Agbl4 A G 4: 111,513,525 (GRCm39) M424V probably benign Het
Bpifa3 C T 2: 153,980,057 (GRCm39) Q230* probably null Het
Cog4 G T 8: 111,573,825 (GRCm39) R48L probably damaging Het
Cop1 A G 1: 159,105,682 (GRCm39) Y33C probably damaging Het
Cyp26a1 A T 19: 37,689,665 (GRCm39) I454L probably benign Het
Ddr1 T C 17: 35,994,489 (GRCm39) H762R probably damaging Het
Dnajc2 A T 5: 21,968,482 (GRCm39) S328T probably benign Het
Dppa2 G T 16: 48,131,986 (GRCm39) V28F probably damaging Het
Dusp15 T A 2: 152,793,275 (GRCm39) M1L possibly damaging Het
Eml5 G A 12: 98,758,301 (GRCm39) T1875M probably damaging Het
Fam186a A G 15: 99,840,977 (GRCm39) S1756P possibly damaging Het
Gm5431 T A 11: 48,779,866 (GRCm39) Q630L probably benign Het
H6pd A G 4: 150,066,512 (GRCm39) S625P possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj6 G T 16: 94,633,518 (GRCm39) P180T probably damaging Het
Lpin3 T A 2: 160,738,981 (GRCm39) M263K probably benign Het
Lrp2 A T 2: 69,331,834 (GRCm39) D1640E probably damaging Het
Lypd2 C T 15: 74,604,347 (GRCm39) A74T probably benign Het
Map4k1 T C 7: 28,688,257 (GRCm39) L223P probably damaging Het
Myh7 A T 14: 55,223,199 (GRCm39) Y715* probably null Het
Myo9b T C 8: 71,808,483 (GRCm39) S1697P probably damaging Het
Neb T C 2: 52,171,510 (GRCm39) E1661G probably damaging Het
Nek8 A T 11: 78,063,765 (GRCm39) M80K probably damaging Het
Nup188 T A 2: 30,220,947 (GRCm39) L979Q probably damaging Het
Or4c113 A T 2: 88,885,431 (GRCm39) V113D probably damaging Het
P4htm T A 9: 108,459,141 (GRCm39) S264C possibly damaging Het
Pcdha8 A G 18: 37,126,768 (GRCm39) T417A probably benign Het
Pclo T C 5: 14,727,406 (GRCm39) probably benign Het
Prox1 T A 1: 189,893,476 (GRCm39) N323I possibly damaging Het
Prune2 A T 19: 17,177,274 (GRCm39) R222S probably damaging Het
Psmd2 C A 16: 20,471,448 (GRCm39) R100S possibly damaging Het
Qrich2 A T 11: 116,337,599 (GRCm39) M1963K probably damaging Het
Rbm39 C T 2: 156,001,082 (GRCm39) G324D probably damaging Het
Rhobtb1 A T 10: 69,105,731 (GRCm39) probably null Het
Rhov G T 2: 119,101,568 (GRCm39) P13T unknown Het
Sec14l3 A G 11: 4,025,209 (GRCm39) D273G possibly damaging Het
Sirpd T A 3: 15,385,639 (GRCm39) R88* probably null Het
Slco2a1 T A 9: 102,927,365 (GRCm39) I86N probably damaging Het
Smg1 A T 7: 117,812,235 (GRCm39) S19T probably benign Het
Stk32a T C 18: 43,438,082 (GRCm39) S194P probably benign Het
Syna G A 5: 134,588,424 (GRCm39) S175L possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tmem151b T C 17: 45,858,045 (GRCm39) Y67C probably damaging Het
Tshz1 C T 18: 84,033,592 (GRCm39) R272Q probably damaging Het
Tti1 A G 2: 157,850,115 (GRCm39) S375P probably damaging Het
Vcan T C 13: 89,873,636 (GRCm39) K73E probably damaging Het
Vmn1r202 C T 13: 22,685,920 (GRCm39) V166I probably benign Het
Vmn2r10 A G 5: 109,154,286 (GRCm39) V6A probably benign Het
Zfhx4 A G 3: 5,307,107 (GRCm39) D111G probably damaging Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R 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
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
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'- CTCCTCAATCACACAGTTCAGTATC -3'
(R):5'- GCCTGCCCATAAGTTTTAAGTAATC -3'

Sequencing Primer
(F):5'- CACACAGTTCAGTATCCTATGGTAG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
Posted On 2016-06-15