Incidental Mutation 'R4905:Akap5'
ID 378123
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: 0.314) question?
Stock # R4905 (G1)
Quality Score 183
Status Not validated
Chromosome 12
Chromosomal Location 76371665-76380927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76375207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 213 (E213G)
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: E213G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: E213G

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: E206G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: E206G

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: E213G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: E213G

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,448,680 (GRCm39) probably null Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc5 A G 16: 20,218,678 (GRCm39) S235P probably damaging Het
Abcc6 T C 7: 45,644,649 (GRCm39) N842S probably benign Het
Acbd6 G A 1: 155,500,669 (GRCm39) V210I probably benign Het
Ahctf1 A T 1: 179,576,192 (GRCm39) V2130D probably damaging Het
Alyref T G 11: 120,486,879 (GRCm39) probably null Het
Anapc5 G T 5: 122,955,973 (GRCm39) N152K probably benign Het
Atp8b2 A T 3: 89,856,315 (GRCm39) D416E probably benign Het
AW551984 A T 9: 39,508,454 (GRCm39) V354E probably damaging Het
Bag6 A G 17: 35,364,162 (GRCm39) E844G probably damaging Het
Bmp1 C T 14: 70,728,802 (GRCm39) R590H probably benign Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Col6a6 A G 9: 105,644,623 (GRCm39) S1222P probably damaging Het
Dhfr G A 13: 92,502,282 (GRCm39) G118S probably damaging Het
Dnah9 G A 11: 65,764,950 (GRCm39) R1414* probably null Het
Dnai1 A G 4: 41,614,269 (GRCm39) D315G probably benign Het
Eogt T C 6: 97,119,792 (GRCm39) R139G probably benign Het
Fcgbpl1 A T 7: 27,856,408 (GRCm39) K2065M possibly damaging Het
Fh1 C T 1: 175,446,639 (GRCm39) G79E probably damaging Het
Gabrg3 A G 7: 56,374,304 (GRCm39) Y421H probably damaging Het
Glipr1 C A 10: 111,821,545 (GRCm39) R219L probably damaging Het
Gm1123 T C 9: 98,891,369 (GRCm39) D360G probably benign Het
Ift81 C T 5: 122,729,142 (GRCm39) probably null Het
Itsn2 A G 12: 4,684,583 (GRCm39) probably benign Het
Kri1 A T 9: 21,198,998 (GRCm39) H55Q probably benign Het
Mcidas C A 13: 113,130,951 (GRCm39) A92E possibly damaging Het
Mcidas C T 13: 113,134,038 (GRCm39) T174M possibly damaging Het
Mmp25 C A 17: 23,863,022 (GRCm39) G130* probably null Het
Myh11 G A 16: 14,068,387 (GRCm39) T211M probably benign Het
Myo10 A G 15: 25,800,298 (GRCm39) D1458G probably damaging Het
Ncf4 A G 15: 78,139,104 (GRCm39) T154A probably damaging Het
Nfatc4 T C 14: 56,068,039 (GRCm39) I620T probably benign Het
Nos3 A T 5: 24,572,329 (GRCm39) Y134F probably benign Het
Nup50l T A 6: 96,142,911 (GRCm39) R44S possibly damaging Het
Or13c3 T C 4: 52,855,613 (GRCm39) N300S probably damaging Het
Or51a6 A T 7: 102,604,721 (GRCm39) I36N probably damaging Het
Or5b106 C A 19: 13,123,541 (GRCm39) A161S probably benign Het
Or6c209 T A 10: 129,483,792 (GRCm39) V265E possibly damaging Het
Pax9 G T 12: 56,743,411 (GRCm39) R19S probably damaging Het
Pcdha9 T C 18: 37,131,945 (GRCm39) I338T probably damaging Het
Plxnb2 G T 15: 89,041,614 (GRCm39) T1730K probably damaging Het
Rac1 A G 5: 143,502,907 (GRCm39) probably null Het
Samsn1 G T 16: 75,673,353 (GRCm39) F174L possibly damaging Het
Scaf1 G A 7: 44,662,129 (GRCm39) T86M probably damaging Het
Smc1b A G 15: 84,950,428 (GRCm39) Y1199H probably damaging Het
Svep1 A G 4: 58,069,308 (GRCm39) I2826T probably benign Het
Tex36 A G 7: 133,189,182 (GRCm39) V130A probably damaging Het
Tigd5 A G 15: 75,783,252 (GRCm39) H538R probably damaging Het
Tlr3 C A 8: 45,852,260 (GRCm39) probably null Het
Tubb2b A T 13: 34,312,187 (GRCm39) I202N probably damaging Het
Unc13c A G 9: 73,587,674 (GRCm39) V1453A probably benign Het
Unc5c A T 3: 141,507,071 (GRCm39) T608S probably benign Het
Vrk1 C A 12: 106,018,087 (GRCm39) H119N probably damaging Het
Wdr53 T A 16: 32,075,476 (GRCm39) M227K probably benign Het
Xpo4 T C 14: 57,875,746 (GRCm39) D129G possibly damaging Het
Zcchc4 T C 5: 52,953,992 (GRCm39) I224T probably damaging Het
Zdhhc1 T A 8: 106,210,326 (GRCm39) E30D probably damaging Het
Zscan29 C G 2: 120,991,864 (GRCm39) R540T 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
R4893:Akap5 UTSW 12 76,376,743 (GRCm39) missense probably damaging 0.99
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'- ATTCAGGCTACGTCAGAGTCC -3'
(R):5'- GGATGCCATTACTGGGTTCTTC -3'

Sequencing Primer
(F):5'- CTACGTCAGAGTCCAGGGAG -3'
(R):5'- CTTCCAGACTATGTTGATGTGTG -3'
Posted On 2016-04-15