Incidental Mutation 'IGL02194:Akap5'
ID 284011
Institutional Source Australian Phenomics Network (link to record)
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: 0.314) question?
Stock # IGL02194
Quality Score
Status
Chromosome 12
Chromosomal Location 76371665-76380927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76374807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 80 (P80S)
Ref Sequence ENSEMBL: ENSMUSP00000134127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095610] [ENSMUST00000154078] [ENSMUST00000172992]
AlphaFold D3YVF0
Predicted Effect probably damaging
Transcript: ENSMUST00000095610
AA Change: P80S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: P80S

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: P73S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: P73S

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: P80S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: P80S

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,828,812 (GRCm39) Q230* probably null Het
Akap6 T A 12: 52,933,606 (GRCm39) M366K probably benign Het
Ankef1 T A 2: 136,392,429 (GRCm39) D539E probably benign Het
Anxa11 A G 14: 25,870,553 (GRCm39) D39G unknown Het
Atp13a4 G T 16: 29,275,447 (GRCm39) H346N probably damaging Het
Btnl1 A C 17: 34,598,509 (GRCm39) T42P possibly damaging Het
Cul3 T A 1: 80,300,754 (GRCm39) Y29F probably benign Het
Dcun1d4 A G 5: 73,638,544 (GRCm39) probably benign Het
Det1 A T 7: 78,489,912 (GRCm39) V371E probably benign Het
Duoxa2 C A 2: 122,132,330 (GRCm39) A248D possibly damaging Het
Ehbp1l1 A T 19: 5,768,885 (GRCm39) I806K probably benign Het
Fam76b G T 9: 13,744,274 (GRCm39) G124W probably damaging Het
Fhl5 T C 4: 25,211,341 (GRCm39) E117G probably benign Het
Ighv15-2 T C 12: 114,528,341 (GRCm39) I70V probably damaging Het
Iqca1 T C 1: 89,973,385 (GRCm39) T768A probably benign Het
Itih1 A C 14: 30,652,322 (GRCm39) D786E probably benign Het
Krt15 A G 11: 100,022,839 (GRCm39) probably benign Het
Lgals9 T A 11: 78,857,746 (GRCm39) probably null Het
Map3k4 G T 17: 12,467,882 (GRCm39) Q1051K probably benign Het
Map3k4 G T 17: 12,482,815 (GRCm39) P634H probably damaging Het
Mettl21e T C 1: 44,250,343 (GRCm39) D21G probably benign Het
Mre11a T C 9: 14,726,505 (GRCm39) S423P possibly damaging Het
Mzf1 T A 7: 12,777,647 (GRCm39) T665S possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or7c19 T A 8: 85,957,262 (GRCm39) I46N possibly damaging Het
Otx2 A T 14: 48,898,850 (GRCm39) V52D possibly damaging Het
Rnf157 C T 11: 116,237,858 (GRCm39) probably null Het
Ssxa1 T A X: 20,987,394 (GRCm39) I115N unknown Het
Ube2q2l T C 6: 136,378,056 (GRCm39) Q258R probably benign Het
Other mutations in Akap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16