Incidental Mutation 'R7151:Akap5'
ID 554146
Institutional Source Beutler Lab
Gene Symbol Akap5
Ensembl Gene ENSMUSG00000021057
Gene Name A kinase anchor protein 5
Synonyms LOC238276, 3526401B18Rik, AKAP150
MMRRC Submission 045253-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # R7151 (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 76375023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 152 (V152I)
Ref Sequence ENSEMBL: ENSMUSP00000093270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095610] [ENSMUST00000154078] [ENSMUST00000172992]
AlphaFold D3YVF0
Predicted Effect probably benign
Transcript: ENSMUST00000095610
AA Change: V152I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: V152I

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 benign
Transcript: ENSMUST00000154078
AA Change: V145I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: V145I

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 benign
Transcript: ENSMUST00000172992
AA Change: V152I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: V152I

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: 98.7%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T A 2: 32,630,618 (GRCm39) Q52L unknown Het
Acsl1 A G 8: 46,966,634 (GRCm39) D202G probably damaging Het
Adam3 A T 8: 25,185,271 (GRCm39) C476S probably damaging Het
Adam34 T A 8: 44,104,499 (GRCm39) E382V probably benign Het
Aldh5a1 C T 13: 25,121,382 (GRCm39) W57* probably null Het
Angptl2 C T 2: 33,133,922 (GRCm39) Q415* probably null Het
Bnc1 G T 7: 81,623,055 (GRCm39) T724N possibly damaging Het
Brca2 T C 5: 150,464,901 (GRCm39) V1555A probably benign Het
Btn1a1 T A 13: 23,643,483 (GRCm39) D322V probably damaging Het
Chsy3 T A 18: 59,542,357 (GRCm39) D498E possibly damaging Het
Ddx24 T C 12: 103,390,347 (GRCm39) T215A probably benign Het
Dhx57 A T 17: 80,580,476 (GRCm39) V492E probably damaging Het
Dnhd1 G A 7: 105,359,234 (GRCm39) R3523Q probably benign Het
Dock3 T A 9: 106,841,916 (GRCm39) D971V possibly damaging Het
Ercc8 T C 13: 108,323,816 (GRCm39) probably null Het
Erich5 T A 15: 34,471,095 (GRCm39) L108Q probably damaging Het
F5 A T 1: 164,029,230 (GRCm39) Y1743F probably damaging Het
Gale T C 4: 135,694,503 (GRCm39) V243A probably damaging Het
Gspt1 T A 16: 11,071,692 (GRCm39) Q57L probably benign Het
Gtf3a C A 5: 146,888,085 (GRCm39) Q129K probably benign Het
Heyl T C 4: 123,140,254 (GRCm39) V271A probably benign Het
Hsd17b4 T C 18: 50,261,437 (GRCm39) F7L probably damaging Het
Hspa12a T C 19: 58,810,594 (GRCm39) T150A probably benign Het
Ift140 T A 17: 25,274,699 (GRCm39) D790E probably damaging Het
Igkv4-69 T A 6: 69,260,917 (GRCm39) Y70F probably damaging Het
Il1rap T C 16: 26,530,878 (GRCm39) Y405H probably damaging Het
Insyn2a A C 7: 134,520,374 (GRCm39) I52S probably damaging Het
Irf2bpl G T 12: 86,930,127 (GRCm39) P182Q probably benign Het
Itm2b C A 14: 73,605,829 (GRCm39) probably benign Het
Kcnc2 T C 10: 112,294,414 (GRCm39) V106A possibly damaging Het
Krt87 C A 15: 101,387,529 (GRCm39) D170Y probably damaging Het
Lca5 T A 9: 83,280,693 (GRCm39) Y369F probably benign Het
Mgat5 T A 1: 127,373,999 (GRCm39) D466E probably damaging Het
Mier3 C T 13: 111,851,302 (GRCm39) P428L probably benign Het
Myo6 T C 9: 80,152,418 (GRCm39) Y167H unknown Het
Neu2 A G 1: 87,524,297 (GRCm39) E94G probably benign Het
Nlrp9a A T 7: 26,256,672 (GRCm39) K97* probably null Het
Npdc1 A G 2: 25,299,120 (GRCm39) M306V probably damaging Het
Odf2l A T 3: 144,832,827 (GRCm39) N95I probably benign Het
Or10j3 A G 1: 173,031,633 (GRCm39) K237E probably damaging Het
Or13d1 G T 4: 52,970,665 (GRCm39) V15L probably benign Het
Or5t16 A G 2: 86,819,385 (GRCm39) V45A probably benign Het
Or7g21 A G 9: 19,033,037 (GRCm39) Y259C possibly damaging Het
P2ry12 A G 3: 59,125,127 (GRCm39) F183L probably benign Het
Proser3 A G 7: 30,239,749 (GRCm39) F452L possibly damaging Het
Ptgfrn G T 3: 100,987,511 (GRCm39) Y117* probably null Het
Rab3gap2 G T 1: 184,980,250 (GRCm39) V360F probably benign Het
Rp1l1 A T 14: 64,266,475 (GRCm39) D687V possibly damaging Het
Rxfp2 T G 5: 149,966,572 (GRCm39) N103K probably benign Het
Scfd2 T A 5: 74,558,326 (GRCm39) Q517L possibly damaging Het
Scnn1b G A 7: 121,517,109 (GRCm39) A582T probably damaging Het
Serpinb6e T C 13: 34,021,818 (GRCm39) E170G probably damaging Het
Serpinb8 T A 1: 107,533,527 (GRCm39) V194E probably damaging Het
Sgcz T A 8: 38,006,833 (GRCm39) H191L possibly damaging Het
Sirt1 A T 10: 63,159,775 (GRCm39) L435Q probably damaging Het
Sorcs1 G A 19: 50,301,420 (GRCm39) P315S probably damaging Het
Spdef T A 17: 27,939,134 (GRCm39) S71C possibly damaging Het
Spta1 T A 1: 174,025,317 (GRCm39) H727Q probably damaging Het
Srsf1 C T 11: 87,940,084 (GRCm39) Q199* probably null Het
Stard9 A T 2: 120,526,623 (GRCm39) D960V probably benign Het
Tcp10c A T 17: 13,576,166 (GRCm39) I49F possibly damaging Het
Tgm2 T C 2: 157,971,315 (GRCm39) N308S possibly damaging Het
Tiam2 A G 17: 3,498,660 (GRCm39) D812G probably benign Het
Tph1 A T 7: 46,311,541 (GRCm39) V67D possibly damaging Het
Trps1 C T 15: 50,685,793 (GRCm39) R794H possibly damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn2r92 A T 17: 18,387,005 (GRCm39) T115S probably benign Het
Wdr11 A G 7: 129,208,376 (GRCm39) D377G probably damaging Het
Wdr55 G T 18: 36,895,989 (GRCm39) A251S possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfp109 A T 7: 23,929,231 (GRCm39) H67Q probably benign Het
Zfp462 G A 4: 55,051,271 (GRCm39) C2248Y probably damaging Het
Zyg11b T C 4: 108,102,119 (GRCm39) H534R 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
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
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'- CCTTGTGACACACAGGAAAAGG -3'
(R):5'- AGGAGTTCCCATCTGGATAGC -3'

Sequencing Primer
(F):5'- AAAAGGTCCGAGCCTGC -3'
(R):5'- CCCATCTGGATAGCAGAAGATTTG -3'
Posted On 2019-05-15