Incidental Mutation 'IGL00712:Akap12'
ID 8712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap12
Ensembl Gene ENSMUSG00000038587
Gene Name A kinase anchor protein 12
Synonyms Tsga12, Srcs5, SSeCKS
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL00712
Quality Score
Status
Chromosome 10
Chromosomal Location 4216380-4309470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4357164 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1325 (V1325L)
Ref Sequence ENSEMBL: ENSMUSP00000150261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045730] [ENSMUST00000215696]
AlphaFold Q9WTQ5
Predicted Effect probably benign
Transcript: ENSMUST00000045730
AA Change: V1430L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: V1430L

DomainStartEndE-ValueType
low complexity region 30 48 N/A INTRINSIC
low complexity region 120 132 N/A INTRINSIC
low complexity region 151 171 N/A INTRINSIC
low complexity region 187 198 N/A INTRINSIC
internal_repeat_1 212 279 3.2e-5 PROSPERO
coiled coil region 304 331 N/A INTRINSIC
low complexity region 387 398 N/A INTRINSIC
low complexity region 407 424 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
low complexity region 497 526 N/A INTRINSIC
low complexity region 550 561 N/A INTRINSIC
low complexity region 571 582 N/A INTRINSIC
Pfam:WSK 591 619 2e-15 PFAM
low complexity region 626 637 N/A INTRINSIC
low complexity region 673 684 N/A INTRINSIC
low complexity region 700 711 N/A INTRINSIC
Pfam:WSK 738 766 2.3e-15 PFAM
Pfam:WSK 779 807 6.2e-11 PFAM
low complexity region 951 973 N/A INTRINSIC
low complexity region 1050 1065 N/A INTRINSIC
low complexity region 1177 1187 N/A INTRINSIC
internal_repeat_1 1197 1265 3.2e-5 PROSPERO
low complexity region 1303 1312 N/A INTRINSIC
Pfam:RII_binding_1 1501 1518 4.2e-7 PFAM
coiled coil region 1651 1676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215696
AA Change: V1325L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216139
Coding Region Coverage
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 is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc150 A C 1: 54,311,709 (GRCm39) probably benign Het
Fth1 A G 19: 9,962,163 (GRCm39) T136A probably benign Het
Itpr2 T C 6: 146,133,934 (GRCm39) D1857G possibly damaging Het
Nbas A G 12: 13,412,626 (GRCm39) probably benign Het
Nipbl T A 15: 8,398,958 (GRCm39) R115S probably damaging Het
Nlrp14 A G 7: 106,796,448 (GRCm39) N266D probably damaging Het
Tmem256 T C 11: 69,730,063 (GRCm39) L47S probably damaging Het
Other mutations in Akap12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Akap12 APN 10 4,303,273 (GRCm39) missense probably benign 0.04
IGL01360:Akap12 APN 10 4,307,537 (GRCm39) missense probably benign 0.02
IGL01455:Akap12 APN 10 4,306,886 (GRCm39) missense probably damaging 0.99
IGL01458:Akap12 APN 10 4,304,060 (GRCm39) missense probably damaging 1.00
IGL01465:Akap12 APN 10 4,306,886 (GRCm39) missense probably damaging 0.99
IGL02348:Akap12 APN 10 4,304,722 (GRCm39) missense probably damaging 1.00
IGL02425:Akap12 APN 10 4,306,034 (GRCm39) missense possibly damaging 0.67
IGL02502:Akap12 APN 10 4,303,163 (GRCm39) missense probably damaging 1.00
IGL02736:Akap12 APN 10 4,305,637 (GRCm39) missense probably benign
IGL02969:Akap12 APN 10 4,304,864 (GRCm39) missense probably damaging 1.00
IGL03345:Akap12 APN 10 4,306,697 (GRCm39) missense probably benign 0.42
ANU23:Akap12 UTSW 10 4,303,273 (GRCm39) missense probably benign 0.04
FR4976:Akap12 UTSW 10 4,303,837 (GRCm39) small insertion probably benign
R0004:Akap12 UTSW 10 4,303,220 (GRCm39) missense probably damaging 1.00
R0004:Akap12 UTSW 10 4,303,218 (GRCm39) missense possibly damaging 0.56
R0207:Akap12 UTSW 10 4,303,333 (GRCm39) missense probably damaging 1.00
R0580:Akap12 UTSW 10 4,304,741 (GRCm39) missense possibly damaging 0.91
R0675:Akap12 UTSW 10 4,303,315 (GRCm39) missense probably benign 0.06
R1248:Akap12 UTSW 10 4,303,847 (GRCm39) missense probably benign 0.11
R1338:Akap12 UTSW 10 4,263,773 (GRCm39) missense possibly damaging 0.95
R1448:Akap12 UTSW 10 4,305,475 (GRCm39) missense probably benign 0.22
R1458:Akap12 UTSW 10 4,303,693 (GRCm39) missense probably damaging 1.00
R1521:Akap12 UTSW 10 4,304,804 (GRCm39) missense probably benign 0.02
R1585:Akap12 UTSW 10 4,303,640 (GRCm39) missense probably benign 0.11
R1725:Akap12 UTSW 10 4,303,942 (GRCm39) missense probably damaging 1.00
R1756:Akap12 UTSW 10 4,307,574 (GRCm39) missense probably benign 0.04
R1914:Akap12 UTSW 10 4,306,685 (GRCm39) missense probably benign 0.01
R1978:Akap12 UTSW 10 4,263,855 (GRCm39) missense probably benign 0.06
R2032:Akap12 UTSW 10 4,306,673 (GRCm39) missense possibly damaging 0.50
R2041:Akap12 UTSW 10 4,306,489 (GRCm39) missense probably benign 0.01
R3009:Akap12 UTSW 10 4,307,891 (GRCm39) missense probably benign 0.06
R3872:Akap12 UTSW 10 4,307,590 (GRCm39) missense probably benign 0.00
R3874:Akap12 UTSW 10 4,307,590 (GRCm39) missense probably benign 0.00
R3875:Akap12 UTSW 10 4,307,590 (GRCm39) missense probably benign 0.00
R3944:Akap12 UTSW 10 4,307,347 (GRCm39) missense probably benign 0.00
R4612:Akap12 UTSW 10 4,304,456 (GRCm39) missense probably damaging 1.00
R4889:Akap12 UTSW 10 4,306,535 (GRCm39) missense probably damaging 0.97
R5043:Akap12 UTSW 10 4,305,047 (GRCm39) missense probably damaging 1.00
R5176:Akap12 UTSW 10 4,303,947 (GRCm39) missense probably benign 0.19
R5278:Akap12 UTSW 10 4,304,792 (GRCm39) missense probably benign 0.02
R5320:Akap12 UTSW 10 4,307,291 (GRCm39) missense probably benign 0.00
R5443:Akap12 UTSW 10 4,305,576 (GRCm39) missense probably damaging 1.00
R5533:Akap12 UTSW 10 4,307,405 (GRCm39) missense probably damaging 1.00
R6133:Akap12 UTSW 10 4,305,178 (GRCm39) missense probably benign 0.05
R6142:Akap12 UTSW 10 4,263,740 (GRCm39) splice site probably null
R6190:Akap12 UTSW 10 4,306,268 (GRCm39) missense possibly damaging 0.92
R6458:Akap12 UTSW 10 4,305,148 (GRCm39) missense probably damaging 1.00
R6562:Akap12 UTSW 10 4,306,141 (GRCm39) nonsense probably null
R6701:Akap12 UTSW 10 4,305,243 (GRCm39) missense probably damaging 1.00
R6828:Akap12 UTSW 10 4,304,606 (GRCm39) missense probably damaging 0.96
R6991:Akap12 UTSW 10 4,307,122 (GRCm39) nonsense probably null
R7023:Akap12 UTSW 10 4,306,895 (GRCm39) missense probably benign 0.05
R7102:Akap12 UTSW 10 4,303,226 (GRCm39) missense probably damaging 1.00
R7483:Akap12 UTSW 10 4,303,967 (GRCm39) missense probably benign 0.00
R7538:Akap12 UTSW 10 4,303,213 (GRCm39) missense probably damaging 1.00
R7664:Akap12 UTSW 10 4,303,748 (GRCm39) missense probably damaging 1.00
R7704:Akap12 UTSW 10 4,306,082 (GRCm39) missense probably damaging 1.00
R8447:Akap12 UTSW 10 4,306,289 (GRCm39) missense probably benign 0.32
R8502:Akap12 UTSW 10 4,263,856 (GRCm39) missense probably benign 0.22
R8910:Akap12 UTSW 10 4,263,822 (GRCm39) missense probably benign
R8946:Akap12 UTSW 10 4,304,368 (GRCm39) missense probably damaging 1.00
R9003:Akap12 UTSW 10 4,306,744 (GRCm39) missense probably benign 0.32
R9237:Akap12 UTSW 10 4,307,231 (GRCm39) missense probably benign
R9347:Akap12 UTSW 10 4,303,640 (GRCm39) missense probably benign 0.11
R9428:Akap12 UTSW 10 4,303,409 (GRCm39) missense probably damaging 1.00
R9734:Akap12 UTSW 10 4,305,929 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06