Incidental Mutation 'R9493:Akap5'
ID 717070
Institutional Source Beutler Lab
Gene Symbol Akap5
Ensembl Gene ENSMUSG00000021057
Gene Name A kinase anchor protein 5
Synonyms LOC238276, 3526401B18Rik, AKAP150
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R9493 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 76371665-76380927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76375041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 158 (A158T)
Ref Sequence ENSEMBL: ENSMUSP00000093270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095610] [ENSMUST00000154078] [ENSMUST00000172992]
AlphaFold D3YVF0
Predicted Effect probably damaging
Transcript: ENSMUST00000095610
AA Change: A158T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: A158T

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:WSK 78 108 4.7e-13 PFAM
SCOP:d1k28a2 386 573 6e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154078
AA Change: A151T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: A151T

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
Pfam:WSK 71 101 3.3e-13 PFAM
SCOP:d1k28a2 379 566 8e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172992
AA Change: A158T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: A158T

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:WSK 79 107 8.7e-15 PFAM
SCOP:d1k28a2 386 573 6e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced long term potentiation, improved glucose handling and heightened insulin sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,191 (GRCm39) Y799H probably damaging Het
Aox4 A G 1: 58,286,434 (GRCm39) K689E probably benign Het
Arid1b G A 17: 5,046,423 (GRCm39) A404T unknown Het
Bltp1 A G 3: 37,065,885 (GRCm39) N53S Het
Camk2b T A 11: 5,929,711 (GRCm39) D396V probably damaging Het
Cd53 T A 3: 106,674,683 (GRCm39) D128V probably null Het
Cdk15 G T 1: 59,326,943 (GRCm39) R208L probably damaging Het
Celsr1 T G 15: 85,785,346 (GRCm39) K2963Q probably damaging Het
Celsr2 A G 3: 108,301,074 (GRCm39) S2740P probably damaging Het
Clca4b A T 3: 144,632,964 (GRCm39) L162H probably damaging Het
Cntn1 A T 15: 92,189,644 (GRCm39) T656S probably damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Dpy19l2 A G 9: 24,530,459 (GRCm39) Y507H probably damaging Het
Dsc3 A T 18: 20,122,752 (GRCm39) C57* probably null Het
Gramd1b A G 9: 40,217,689 (GRCm39) Y621H probably damaging Het
Ifi207 A T 1: 173,556,522 (GRCm39) C739S probably benign Het
Il1rap T C 16: 26,541,702 (GRCm39) S648P probably benign Het
Ints5 C T 19: 8,872,686 (GRCm39) T215I probably damaging Het
Itm2c T C 1: 85,834,255 (GRCm39) probably null Het
Lmo7 T A 14: 102,137,907 (GRCm39) S870T probably benign Het
Lrpprc A T 17: 85,015,548 (GRCm39) F1288I probably damaging Het
Megf11 A T 9: 64,547,376 (GRCm39) H209L probably damaging Het
Mtss1 C T 15: 58,926,869 (GRCm39) R69H probably damaging Het
Nms A T 1: 38,980,982 (GRCm39) H56L probably benign Het
Or4f54 G A 2: 111,122,736 (GRCm39) G41D probably damaging Het
Or4k36 C T 2: 111,146,288 (GRCm39) H155Y probably damaging Het
Or56a5 A T 7: 104,793,497 (GRCm39) M7K possibly damaging Het
Or5t17 T C 2: 86,833,140 (GRCm39) S276P probably benign Het
Pds5a G A 5: 65,792,747 (GRCm39) R729W probably damaging Het
Pskh1 C T 8: 106,639,598 (GRCm39) R93* probably null Het
Rapgef2 G A 3: 79,019,495 (GRCm39) L59F probably damaging Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sec31b C A 19: 44,509,021 (GRCm39) V653F probably damaging Het
Slc10a2 A G 8: 5,139,047 (GRCm39) V299A Het
Slc6a15 A G 10: 103,229,277 (GRCm39) I105M probably benign Het
Smurf1 A G 5: 144,833,395 (GRCm39) V209A Het
Snapc2 A G 8: 4,304,591 (GRCm39) E115G probably damaging Het
Sorcs2 T C 5: 36,199,529 (GRCm39) E592G possibly damaging Het
Spmip6 G A 4: 41,508,614 (GRCm39) P17L Het
Styxl2 T A 1: 165,926,410 (GRCm39) K1067N probably damaging Het
Tcl1b1 A T 12: 105,130,823 (GRCm39) Q102L probably damaging Het
Tmc1 T A 19: 20,801,644 (GRCm39) N461Y probably benign Het
Trim59 C A 3: 68,945,134 (GRCm39) G69C probably damaging Het
Tubg1 A G 11: 101,017,003 (GRCm39) Y435C probably damaging Het
Ucp3 A C 7: 100,131,911 (GRCm39) H254P probably benign Het
Vav2 T C 2: 27,157,276 (GRCm39) D842G probably damaging Het
Vmn1r203 T A 13: 22,708,423 (GRCm39) L68H probably damaging Het
Wee2 A G 6: 40,421,057 (GRCm39) E49G probably benign Het
Zfr A G 15: 12,180,706 (GRCm39) probably null Het
Other mutations in Akap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Akap5 APN 12 76,374,807 (GRCm39) missense probably damaging 0.99
IGL02309:Akap5 APN 12 76,375,629 (GRCm39) missense possibly damaging 0.91
IGL02801:Akap5 APN 12 76,375,769 (GRCm39) missense probably benign 0.25
IGL03136:Akap5 APN 12 76,376,649 (GRCm39) nonsense probably null
PIT4802001:Akap5 UTSW 12 76,376,706 (GRCm39) missense probably damaging 1.00
R1517:Akap5 UTSW 12 76,376,036 (GRCm39) missense possibly damaging 0.91
R1694:Akap5 UTSW 12 76,376,698 (GRCm39) missense probably damaging 0.99
R2012:Akap5 UTSW 12 76,376,122 (GRCm39) missense possibly damaging 0.53
R4507:Akap5 UTSW 12 76,374,681 (GRCm39) missense possibly damaging 0.91
R4755:Akap5 UTSW 12 76,374,581 (GRCm39) nonsense probably null
R4893:Akap5 UTSW 12 76,376,743 (GRCm39) missense probably damaging 0.99
R4905:Akap5 UTSW 12 76,375,207 (GRCm39) missense probably damaging 0.96
R5482:Akap5 UTSW 12 76,375,600 (GRCm39) missense probably benign 0.26
R5886:Akap5 UTSW 12 76,374,619 (GRCm39) missense possibly damaging 0.88
R7151:Akap5 UTSW 12 76,375,023 (GRCm39) missense probably benign 0.08
R7413:Akap5 UTSW 12 76,375,678 (GRCm39) missense possibly damaging 0.65
R7514:Akap5 UTSW 12 76,375,303 (GRCm39) missense probably benign 0.00
R8494:Akap5 UTSW 12 76,376,455 (GRCm39) missense probably benign
R9117:Akap5 UTSW 12 76,374,592 (GRCm39) missense possibly damaging 0.53
R9187:Akap5 UTSW 12 76,376,745 (GRCm39) nonsense probably null
R9473:Akap5 UTSW 12 76,376,632 (GRCm39) missense probably damaging 1.00
X0067:Akap5 UTSW 12 76,374,972 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AAAGGTCCGAGCCTGCAAAG -3'
(R):5'- AGGAGTTCCCATCTGGATAGC -3'

Sequencing Primer
(F):5'- GAAGCAGAAGCCGCCTG -3'
(R):5'- CCCATCTGGATAGCAGAAGATTTG -3'
Posted On 2022-07-18