Incidental Mutation 'R5084:Akap7'
ID 387323
Institutional Source Beutler Lab
Gene Symbol Akap7
Ensembl Gene ENSMUSG00000039166
Gene Name A kinase anchor protein 7
Synonyms AKAP15, Akap18
MMRRC Submission 042673-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5084 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 25044988-25175115 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 25155640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041984] [ENSMUST00000095779] [ENSMUST00000176231] [ENSMUST00000176258] [ENSMUST00000177124]
AlphaFold Q7TN79
Predicted Effect probably benign
Transcript: ENSMUST00000041984
SMART Domains Protein: ENSMUSP00000043624
Gene: ENSMUSG00000039166

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 unknown
Transcript: ENSMUST00000095779
AA Change: K84N
SMART Domains Protein: ENSMUSP00000093455
Gene: ENSMUSG00000039166
AA Change: K84N

DomainStartEndE-ValueType
PDB:3J4R|A 1 63 6e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158423
Predicted Effect probably benign
Transcript: ENSMUST00000176231
Predicted Effect probably benign
Transcript: ENSMUST00000176258
SMART Domains Protein: ENSMUSP00000135037
Gene: ENSMUSG00000039166

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:AKAP7_NLS 51 142 5.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177124
SMART Domains Protein: ENSMUSP00000135137
Gene: ENSMUSG00000039166

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
PDB:3J4R|A 37 126 1e-24 PDB
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,204,116 (GRCm39) E59D probably damaging Het
Anpep C A 7: 79,476,618 (GRCm39) probably null Het
Aste1 T A 9: 105,274,886 (GRCm39) Y314* probably null Het
Ccdc183 G A 2: 25,498,802 (GRCm39) T497I probably damaging Het
Cd4 A T 6: 124,847,402 (GRCm39) I254N probably damaging Het
Crot G T 5: 9,019,994 (GRCm39) H449Q probably damaging Het
Dact2 A T 17: 14,418,214 (GRCm39) W164R possibly damaging Het
Dapk3 C A 10: 81,026,152 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbrsl1 G A 5: 110,527,272 (GRCm39) probably benign Het
Flg T C 3: 93,184,922 (GRCm39) F15L probably damaging Het
Fscn2 A G 11: 120,252,686 (GRCm39) D51G probably damaging Het
H2-Ob G T 17: 34,460,102 (GRCm39) G71V probably damaging Het
Hmgcs1 T C 13: 120,161,520 (GRCm39) V104A possibly damaging Het
Hs3st4 G T 7: 123,996,518 (GRCm39) D395Y probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Ldlrad3 G A 2: 101,900,329 (GRCm39) R58C probably damaging Het
Lpin1 A G 12: 16,626,983 (GRCm39) S188P probably damaging Het
Mamdc2 G T 19: 23,336,516 (GRCm39) T331K possibly damaging Het
Matr3 G A 18: 35,715,135 (GRCm39) S195N probably damaging Het
Nktr T C 9: 121,577,176 (GRCm39) Y390H possibly damaging Het
Notch3 C T 17: 32,376,864 (GRCm39) probably null Het
Olfm3 T C 3: 114,698,202 (GRCm39) probably null Het
Or10ak11 A G 4: 118,686,767 (GRCm39) V290A probably damaging Het
Or2a20 T C 6: 43,194,594 (GRCm39) L249P probably damaging Het
Or5h25 C T 16: 58,930,436 (GRCm39) C179Y possibly damaging Het
Or7e173 T A 9: 19,938,551 (GRCm39) I228F probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pask A G 1: 93,249,819 (GRCm39) V527A probably benign Het
Pcdha6 A T 18: 37,102,016 (GRCm39) N403I probably damaging Het
Peg3 T C 7: 6,710,848 (GRCm39) E1458G probably damaging Het
Pip4k2b G A 11: 97,610,569 (GRCm39) T386M probably damaging Het
Pkd1l1 T C 11: 8,892,004 (GRCm39) M272V probably benign Het
Plcb4 A G 2: 135,844,571 (GRCm39) E163G probably damaging Het
Plk5 C A 10: 80,194,723 (GRCm39) R149S possibly damaging Het
Pou4f3 A T 18: 42,528,933 (GRCm39) Y292F probably damaging Het
Rasgef1c A G 11: 49,860,332 (GRCm39) K272E probably damaging Het
Rbl2 C T 8: 91,841,759 (GRCm39) T942M probably benign Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Smarca4 T C 9: 21,572,059 (GRCm39) L777P probably damaging Het
Smpd1 T C 7: 105,206,185 (GRCm39) Y438H probably damaging Het
Sorl1 T C 9: 41,887,673 (GRCm39) K2052R probably benign Het
Spata31d1c C A 13: 65,182,944 (GRCm39) P162Q probably damaging Het
Spmip9 A G 6: 70,892,688 (GRCm39) S20P possibly damaging Het
Ston1 A T 17: 88,944,002 (GRCm39) E469D probably benign Het
Syde2 AGTTC AGTTCGTTC 3: 145,707,164 (GRCm39) probably null Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Taar5 T A 10: 23,846,836 (GRCm39) L78Q probably damaging Het
Tas2r114 A T 6: 131,666,251 (GRCm39) L259* probably null Het
Topaz1 T A 9: 122,577,883 (GRCm39) H264Q probably benign Het
Vcl G T 14: 21,059,027 (GRCm39) V548L possibly damaging Het
Vmn2r57 C A 7: 41,075,974 (GRCm39) probably null Het
Vmn2r92 A G 17: 18,405,439 (GRCm39) *861W probably null Het
Ylpm1 T G 12: 85,076,095 (GRCm39) V940G probably damaging Het
Zfp236 A G 18: 82,627,556 (GRCm39) S1500P probably damaging Het
Zfp384 G T 6: 125,000,642 (GRCm39) probably benign Het
Zfp786 T C 6: 47,796,953 (GRCm39) M662V probably benign 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
R2158:Akap7 UTSW 10 25,047,062 (GRCm39) missense probably damaging 1.00
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'- TCAGTGCTGATGCGTTCATG -3'
(R):5'- CAAGGCTTGTTCTCATGGATAC -3'

Sequencing Primer
(F):5'- GTTCATGAATGCCCCCTAGG -3'
(R):5'- GTTGGTTGTCTCCCTAACAAAG -3'
Posted On 2016-06-06