Incidental Mutation 'PIT4802001:Akap5'
ID 556751
Institutional Source Beutler Lab
Gene Symbol Akap5
Ensembl Gene ENSMUSG00000021057
Gene Name A kinase anchor protein 5
Synonyms LOC238276, 3526401B18Rik, AKAP150
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.345) question?
Stock # PIT4802001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 76371665-76380927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76376706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 713 (Y713H)
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: Y713H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: Y713H

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 possibly damaging
Transcript: ENSMUST00000154078
AA Change: Y706H

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: Y706H

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: Y713H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: Y713H

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: 93.6%
  • 3x: 91.0%
  • 10x: 85.4%
  • 20x: 73.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,902,172 (GRCm39) D741E probably benign Het
Abca16 A G 7: 120,139,351 (GRCm39) D1461G probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
AW554918 A G 18: 25,473,132 (GRCm39) E312G possibly damaging Het
Car4 G A 11: 84,855,231 (GRCm39) A157T probably damaging Het
Chst9 A T 18: 15,585,849 (GRCm39) M238K probably benign Het
Ctbp2 G A 7: 132,589,974 (GRCm39) H397Y possibly damaging Het
Cyp3a59 A G 5: 146,039,611 (GRCm39) M295V probably benign Het
Daglb T C 5: 143,488,803 (GRCm39) Y586H probably benign Het
Ehbp1l1 G T 19: 5,769,603 (GRCm39) P567T possibly damaging Het
Emilin2 A G 17: 71,580,464 (GRCm39) I754T probably damaging Het
Esyt2 G A 12: 116,329,457 (GRCm39) A672T probably benign Het
Evx1 G T 6: 52,291,175 (GRCm39) E116* probably null Het
Exph5 T C 9: 53,286,278 (GRCm39) S1120P probably damaging Het
Fam184a A T 10: 53,560,450 (GRCm39) L515* probably null Het
Flt4 T A 11: 49,523,996 (GRCm39) D525E probably benign Het
Galt T C 4: 41,756,764 (GRCm39) W135R probably damaging Het
Ifitm6 A T 7: 140,596,648 (GRCm39) C42S probably damaging Het
Ift172 A G 5: 31,442,610 (GRCm39) S186P probably benign Het
Kcnk3 A G 5: 30,779,712 (GRCm39) E254G probably damaging Het
Kmt2b A G 7: 30,278,996 (GRCm39) S1509P probably damaging Het
Ky T A 9: 102,414,972 (GRCm39) S295T probably benign Het
Lrba T A 3: 86,571,801 (GRCm39) Y2368* probably null Het
Mtmr4 T A 11: 87,501,953 (GRCm39) V669E probably benign Het
Myh10 C T 11: 68,655,918 (GRCm39) R471C probably damaging Het
Nav1 G A 1: 135,380,671 (GRCm39) T1416I unknown Het
Nrip1 A C 16: 76,090,157 (GRCm39) S467A probably damaging Het
Ntrk1 T A 3: 87,695,941 (GRCm39) N190Y probably damaging Het
Or14a256 A T 7: 86,265,763 (GRCm39) L30Q probably null Het
Or5h25 A C 16: 58,930,964 (GRCm39) M3R probably benign Het
Pdxp A G 15: 78,802,611 (GRCm39) S282G probably damaging Het
Phtf2 A T 5: 21,006,904 (GRCm39) S220T probably damaging Het
Piezo2 A T 18: 63,157,540 (GRCm39) V2390E probably damaging Het
Pop1 T G 15: 34,529,229 (GRCm39) L783R probably benign Het
Prf1 G A 10: 61,135,972 (GRCm39) A83T probably benign Het
Rab4b A G 7: 26,875,267 (GRCm39) V50A probably benign Het
Rtn1 T A 12: 72,351,100 (GRCm39) T370S probably benign Het
Sdr16c5 T A 4: 4,012,423 (GRCm39) I123F probably damaging Het
Smg6 T A 11: 75,046,991 (GRCm39) V1228D probably damaging Het
Smim19 A G 8: 22,963,539 (GRCm39) V23A probably benign Het
Sox13 A T 1: 133,313,996 (GRCm39) I346N probably damaging Het
Tap1 T A 17: 34,412,165 (GRCm39) Y457N probably damaging Het
Tbck C T 3: 132,458,427 (GRCm39) P686S probably damaging Het
Tcof1 A G 18: 60,965,010 (GRCm39) S570P unknown Het
Tmc5 A T 7: 118,271,449 (GRCm39) M921L probably benign Het
Ttc6 A G 12: 57,772,462 (GRCm39) Y1594C possibly damaging Het
Virma T A 4: 11,546,008 (GRCm39) H1615Q probably damaging Het
Vmn1r19 T A 6: 57,382,037 (GRCm39) Y197N probably damaging Het
Vps13c T C 9: 67,845,068 (GRCm39) F2051L probably damaging Het
Wdr6 C T 9: 108,451,765 (GRCm39) C706Y probably damaging Het
Zfand4 A G 6: 116,261,736 (GRCm39) N100D probably damaging 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
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
R9493:Akap5 UTSW 12 76,375,041 (GRCm39) missense probably damaging 0.99
X0067:Akap5 UTSW 12 76,374,972 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCCATGCACCAGATCTGAAAG -3'
(R):5'- TTCTGGGCTGGAACTGTACC -3'

Sequencing Primer
(F):5'- CATGCACCAGATCTGAAAGAAAATG -3'
(R):5'- TGGAACTGTACCCTTAGATTCCACAG -3'
Posted On 2019-06-07