Incidental Mutation 'R2158:Akap7'
ID 234993
Institutional Source Beutler Lab
Gene Symbol Akap7
Ensembl Gene ENSMUSG00000039166
Gene Name A kinase anchor protein 7
Synonyms AKAP15, Akap18
MMRRC Submission 040161-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2158 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 25044988-25175115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25047062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 45 (V45A)
Ref Sequence ENSEMBL: ENSMUSP00000097590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041984] [ENSMUST00000100012]
AlphaFold Q7TN79
Predicted Effect probably damaging
Transcript: ENSMUST00000041984
AA Change: V278A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043624
Gene: ENSMUSG00000039166
AA Change: V278A

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:AKAP7_NLS 51 249 2.1e-52 PFAM
Pfam:AKAP7_RIRII_bdg 255 312 1.9e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100012
AA Change: V45A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097590
Gene: ENSMUSG00000039166
AA Change: V45A

DomainStartEndE-ValueType
Pfam:AKAP7_RIRII_bdg 21 81 6.1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175979
Predicted Effect probably benign
Transcript: ENSMUST00000220347
Meta Mutation Damage Score 0.2324 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show normal cardiomyocyte response to adrenergic stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,766,608 (GRCm39) V65A possibly damaging Het
4930402F06Rik A T 2: 35,275,680 (GRCm39) S38T possibly damaging Het
Adam4 A G 12: 81,468,537 (GRCm39) L28S probably damaging Het
Agmo T A 12: 37,407,709 (GRCm39) F198I probably damaging Het
Amotl1 G T 9: 14,486,465 (GRCm39) N476K probably benign Het
Apcs A G 1: 172,722,100 (GRCm39) L82P probably damaging Het
Armc3 C A 2: 19,253,444 (GRCm39) P195Q probably damaging Het
Astn2 A T 4: 66,322,491 (GRCm39) L36Q unknown Het
Atad2 A T 15: 57,961,962 (GRCm39) S870T possibly damaging Het
Bmp10 A T 6: 87,411,062 (GRCm39) D285V probably benign Het
Caskin1 T C 17: 24,724,128 (GRCm39) V972A probably benign Het
Ccdc141 T A 2: 76,861,015 (GRCm39) N921Y probably damaging Het
Cntnap5b A T 1: 100,318,297 (GRCm39) D1019V probably damaging Het
Eml5 T C 12: 98,810,205 (GRCm39) probably benign Het
Evi5l T C 8: 4,243,195 (GRCm39) Y360H probably damaging Het
Ewsr1 A G 11: 5,041,450 (GRCm39) probably benign Het
Fn3k A T 11: 121,339,712 (GRCm39) N158I probably damaging Het
Galnt17 C T 5: 130,935,540 (GRCm39) R381Q probably damaging Het
Golga3 A T 5: 110,335,227 (GRCm39) K180N probably damaging Het
Hipk1 A G 3: 103,667,854 (GRCm39) L571P probably damaging Het
Hormad2 T A 11: 4,374,808 (GRCm39) K69* probably null Het
Hspg2 A T 4: 137,244,915 (GRCm39) D880V probably damaging Het
Ido2 T A 8: 25,030,652 (GRCm39) D226V probably damaging Het
Irs3 A G 5: 137,642,961 (GRCm39) F159S probably damaging Het
Itgb1bp1 T C 12: 21,326,860 (GRCm39) T38A probably damaging Het
Kif11 A G 19: 37,399,062 (GRCm39) I749V probably benign Het
Lrp1b T G 2: 40,769,567 (GRCm39) M2811L probably benign Het
Lysmd3 A G 13: 81,817,737 (GRCm39) Y238C probably damaging Het
Mapk11 G A 15: 89,030,575 (GRCm39) T106M probably damaging Het
Mdga2 C T 12: 66,736,155 (GRCm39) V358I possibly damaging Het
Muc4 C T 16: 32,754,563 (GRCm38) T1479I probably benign Het
Myom1 T C 17: 71,371,592 (GRCm39) V578A possibly damaging Het
Nek10 T G 14: 14,885,047 (GRCm38) probably null Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or2t47 T A 11: 58,442,768 (GRCm39) Q99L probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or51a24 T G 7: 103,734,033 (GRCm39) T85P probably benign Het
Or51v14 G C 7: 103,261,443 (GRCm39) T39R possibly damaging Het
Or52a5b G T 7: 103,417,168 (GRCm39) C145* probably null Het
Or8d23 T C 9: 38,841,875 (GRCm39) M136T probably damaging Het
Pde4dip A T 3: 97,664,937 (GRCm39) C333S probably benign Het
Pglyrp2 T A 17: 32,637,222 (GRCm39) I269F probably benign Het
Plch1 A G 3: 63,628,655 (GRCm39) V536A probably benign Het
Popdc2 T A 16: 38,183,188 (GRCm39) L57Q probably damaging Het
Pramel14 T C 4: 143,720,885 (GRCm39) R19G possibly damaging Het
Riox1 A G 12: 83,997,709 (GRCm39) K82E probably benign Het
Rnasel G A 1: 153,630,647 (GRCm39) V388M probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Snx25 A G 8: 46,494,444 (GRCm39) S814P probably damaging Het
Spta1 A T 1: 174,056,824 (GRCm39) H1859L probably benign Het
Strc T C 2: 121,196,343 (GRCm39) I1562V probably benign Het
Taar5 T A 10: 23,846,986 (GRCm39) I128N probably damaging Het
Ttc28 C T 5: 111,325,483 (GRCm39) probably benign Het
Vcan A T 13: 89,851,648 (GRCm39) M1104K possibly damaging Het
Vnn1 C T 10: 23,776,653 (GRCm39) Q335* probably null Het
Zic1 T C 9: 91,246,946 (GRCm39) D42G possibly damaging Het
Other mutations in Akap7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Akap7 APN 10 25,047,138 (GRCm39) missense probably benign 0.00
IGL01638:Akap7 APN 10 25,143,323 (GRCm39) missense probably damaging 1.00
IGL01920:Akap7 APN 10 25,165,501 (GRCm39) nonsense probably null
IGL03145:Akap7 APN 10 25,115,565 (GRCm39) missense probably damaging 1.00
ANU05:Akap7 UTSW 10 25,147,451 (GRCm39) missense probably damaging 1.00
R0304:Akap7 UTSW 10 25,147,450 (GRCm39) missense probably damaging 1.00
R1412:Akap7 UTSW 10 25,165,495 (GRCm39) critical splice donor site probably null
R1791:Akap7 UTSW 10 25,115,583 (GRCm39) missense probably benign
R5084:Akap7 UTSW 10 25,155,640 (GRCm39) unclassified probably benign
R5533:Akap7 UTSW 10 25,159,880 (GRCm39) missense possibly damaging 0.90
R6222:Akap7 UTSW 10 25,159,844 (GRCm39) nonsense probably null
R7195:Akap7 UTSW 10 25,147,405 (GRCm39) missense probably damaging 0.97
R7261:Akap7 UTSW 10 25,147,416 (GRCm39) missense possibly damaging 0.70
R7343:Akap7 UTSW 10 25,165,567 (GRCm39) start gained probably benign
R7785:Akap7 UTSW 10 25,096,559 (GRCm39) missense probably damaging 1.00
R8258:Akap7 UTSW 10 25,047,054 (GRCm39) missense probably damaging 1.00
R8259:Akap7 UTSW 10 25,047,054 (GRCm39) missense probably damaging 1.00
R9127:Akap7 UTSW 10 25,155,676 (GRCm39) missense unknown
R9154:Akap7 UTSW 10 25,047,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTCCAGGGCTTGAACAAGAC -3'
(R):5'- AGATCCCATTTGCCAGAGTGAAG -3'

Sequencing Primer
(F):5'- GACACATTGCGAGTTAGTCTACGAC -3'
(R):5'- GGGCACTTGCTCTTTTAACTAG -3'
Posted On 2014-10-01