Incidental Mutation 'IGL01638:Akap7'
ID93135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap7
Ensembl Gene ENSMUSG00000039166
Gene NameA kinase (PRKA) anchor protein 7
SynonymsAkap18, AKAP15
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01638
Quality Score
Status
Chromosome10
Chromosomal Location25169090-25307870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25267425 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 124 (I124F)
Ref Sequence ENSEMBL: ENSMUSP00000043624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041984] [ENSMUST00000176258]
Predicted Effect probably damaging
Transcript: ENSMUST00000041984
AA Change: I124F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043624
Gene: ENSMUSG00000039166
AA Change: I124F

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 noncoding transcript
Transcript: ENSMUST00000158399
Predicted Effect probably damaging
Transcript: ENSMUST00000176258
AA Change: I124F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135037
Gene: ENSMUSG00000039166
AA Change: I124F

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:AKAP7_NLS 51 142 5.3e-24 PFAM
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Sh3glb2 A G 2: 30,345,850 V310A possibly damaging Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null Het
Other mutations in Akap7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Akap7 APN 10 25171240 missense probably benign 0.00
IGL01920:Akap7 APN 10 25289603 nonsense probably null
IGL03145:Akap7 APN 10 25239667 missense probably damaging 1.00
ANU05:Akap7 UTSW 10 25271553 missense probably damaging 1.00
R0304:Akap7 UTSW 10 25271552 missense probably damaging 1.00
R1412:Akap7 UTSW 10 25289597 critical splice donor site probably null
R1791:Akap7 UTSW 10 25239685 missense probably benign
R2158:Akap7 UTSW 10 25171164 missense probably damaging 1.00
R5084:Akap7 UTSW 10 25279742 unclassified probably benign
R5533:Akap7 UTSW 10 25283982 missense possibly damaging 0.90
R6222:Akap7 UTSW 10 25283946 nonsense probably null
R7195:Akap7 UTSW 10 25271507 missense probably damaging 0.97
R7261:Akap7 UTSW 10 25271518 missense possibly damaging 0.70
R7343:Akap7 UTSW 10 25289669 start gained probably benign
Posted On2013-12-09