Incidental Mutation 'R4893:Akap5'
ID 377422
Institutional Source Beutler Lab
Gene Symbol Akap5
Ensembl Gene ENSMUSG00000021057
Gene Name A kinase anchor protein 5
Synonyms LOC238276, 3526401B18Rik, AKAP150
MMRRC Submission 042498-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R4893 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76371665-76380927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76376743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 718 (V718A)
Ref Sequence ENSEMBL: ENSMUSP00000114495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095610] [ENSMUST00000154078] [ENSMUST00000172992]
AlphaFold D3YVF0
Predicted Effect probably damaging
Transcript: ENSMUST00000095610
AA Change: V725A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: V725A

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: V718A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: V718A

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: V725A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: V725A

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,904 (GRCm39) I401T probably damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Acss1 C A 2: 150,471,786 (GRCm39) V323F probably damaging Het
Adgrf3 T G 5: 30,405,476 (GRCm39) D286A probably benign Het
Ankk1 A G 9: 49,326,983 (GRCm39) V732A probably benign Het
Antxr2 T A 5: 98,151,931 (GRCm39) D180V probably damaging Het
Arfgef2 T G 2: 166,708,876 (GRCm39) F1063V probably benign Het
Ascl5 A T 1: 135,978,917 (GRCm39) I126F probably damaging Het
Aspm T A 1: 139,417,577 (GRCm39) probably null Het
Atf6b T C 17: 34,867,586 (GRCm39) S100P probably damaging Het
Baz2a C A 10: 127,959,284 (GRCm39) H1266Q possibly damaging Het
Cdh4 A T 2: 179,489,212 (GRCm39) probably benign Het
Celsr3 C G 9: 108,726,620 (GRCm39) S3283C probably damaging Het
Clca4b C T 3: 144,630,934 (GRCm39) V309M possibly damaging Het
Cnbd2 T C 2: 156,207,104 (GRCm39) Y436H probably damaging Het
Csnk1a1 T C 18: 61,718,372 (GRCm39) probably benign Het
Cstf1 C T 2: 172,222,444 (GRCm39) R401C probably damaging Het
Cul3 A G 1: 80,266,567 (GRCm39) I117T probably damaging Het
Dlgap3 A G 4: 127,088,776 (GRCm39) D124G probably damaging Het
Dnah12 A G 14: 26,431,325 (GRCm39) D381G possibly damaging Het
Dtna T C 18: 23,702,724 (GRCm39) L85P probably damaging Het
Ephb2 A G 4: 136,387,064 (GRCm39) I722T probably damaging Het
Epn3 A T 11: 94,382,822 (GRCm39) F421I probably damaging Het
Fam83f T A 15: 80,576,156 (GRCm39) L269H probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Gata4 G A 14: 63,439,045 (GRCm39) A139V probably benign Het
Glce T C 9: 61,975,777 (GRCm39) D241G probably benign Het
Gm17728 A T 17: 9,641,063 (GRCm39) I58F probably benign Het
Inhba A T 13: 16,201,134 (GRCm39) D232V possibly damaging Het
Itgb2l C A 16: 96,229,021 (GRCm39) R394L probably benign Het
Klhl14 T C 18: 21,690,992 (GRCm39) Y486C probably damaging Het
Krt1 A G 15: 101,758,555 (GRCm39) I203T probably damaging Het
Lims2 T C 18: 32,074,864 (GRCm39) probably null Het
Lrrc31 T G 3: 30,733,446 (GRCm39) I423L probably benign Het
Map7d1 C T 4: 126,127,015 (GRCm39) D732N unknown Het
Mau2 A T 8: 70,483,290 (GRCm39) probably null Het
Mbtps1 G A 8: 120,244,932 (GRCm39) R840W probably damaging Het
Morn3 T C 5: 123,175,745 (GRCm39) I214M probably damaging Het
Mrpl44 A G 1: 79,755,582 (GRCm39) K63E probably damaging Het
Muc20 T C 16: 32,615,042 (GRCm39) T112A possibly damaging Het
Myo6 T A 9: 80,136,159 (GRCm39) L94Q probably damaging Het
Nos1 C A 5: 118,090,942 (GRCm39) T1423K possibly damaging Het
Or2l13 A G 16: 19,305,653 (GRCm39) T22A probably benign Het
Or2t1 T C 14: 14,328,852 (GRCm38) V247A probably damaging Het
Pdzd2 T C 15: 12,385,429 (GRCm39) T1114A probably benign Het
Pgm2 T C 5: 64,263,283 (GRCm39) V310A probably benign Het
Pi4ka T C 16: 17,194,900 (GRCm39) E166G probably benign Het
Pign A T 1: 105,574,436 (GRCm39) D303E probably damaging Het
Pik3c3 G T 18: 30,415,053 (GRCm39) V149L probably benign Het
Pkd1l3 A T 8: 110,365,026 (GRCm39) Y1126F probably benign Het
Pkd2l1 T A 19: 44,142,210 (GRCm39) Q516L probably benign Het
Pnliprp2 C A 19: 58,759,853 (GRCm39) Q355K probably benign Het
Pnpla7 T A 2: 24,943,688 (GRCm39) Y1314* probably null Het
Ppp1r1b A G 11: 98,246,170 (GRCm39) T51A possibly damaging Het
Prkcd A T 14: 30,321,382 (GRCm39) S544T probably damaging Het
Pusl1 G A 4: 155,973,998 (GRCm39) T252I probably benign Het
Rnf44 A G 13: 54,829,745 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,145 (GRCm39) V303E probably damaging Het
Slc28a2 T A 2: 122,285,697 (GRCm39) probably null Het
Sox8 T C 17: 25,787,963 (GRCm39) D162G probably damaging Het
Spag1 T C 15: 36,197,992 (GRCm39) probably null Het
Taar6 T C 10: 23,861,298 (GRCm39) I83V probably benign Het
Tes T A 6: 17,104,595 (GRCm39) C359S probably damaging Het
Vmn2r4 A T 3: 64,313,676 (GRCm39) L435H probably damaging Het
Zfhx3 G T 8: 109,683,639 (GRCm39) D3693Y unknown Het
Zfp931 G A 2: 177,709,996 (GRCm39) P130L probably damaging Het
Zfr T G 15: 12,136,628 (GRCm39) V95G unknown Het
Zw10 A G 9: 48,985,325 (GRCm39) E587G possibly 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
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
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'- CAAACGAATGGAGCCAATTGC -3'
(R):5'- GCTGGAACTGTACCCTTAGATTC -3'

Sequencing Primer
(F):5'- TCAATGGAAAACGAGCAAGT -3'
(R):5'- TGGAACTGTACCCTTAGATTCCACAG -3'
Posted On 2016-03-17