Incidental Mutation 'R1248:Akap12'
ID 152196
Institutional Source Beutler Lab
Gene Symbol Akap12
Ensembl Gene ENSMUSG00000038587
Gene Name A kinase anchor protein 12
Synonyms Tsga12, Srcs5, SSeCKS
MMRRC Submission 039315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R1248 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 4216380-4309470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4303847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 219 (E219G)
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: E324G

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: E324G

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: E219G

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216139
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (43/44)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,271,054 (GRCm39) F863Y probably damaging Het
Akr1c20 G A 13: 4,564,399 (GRCm39) T38I possibly damaging Het
Ap5z1 C A 5: 142,460,255 (GRCm39) S511R probably benign Het
Arhgap11a T A 2: 113,664,447 (GRCm39) H612L possibly damaging Het
Atp2b2 G T 6: 113,794,153 (GRCm39) S118Y probably damaging Het
Boc A T 16: 44,340,836 (GRCm39) M38K probably benign Het
Ccdc171 A T 4: 83,599,481 (GRCm39) E773D possibly damaging Het
Clxn A G 16: 14,742,001 (GRCm39) M212V probably benign Het
Dmtn C T 14: 70,850,098 (GRCm39) probably benign Het
Dnah10 G A 5: 124,832,887 (GRCm39) probably benign Het
Fam83b T C 9: 76,410,358 (GRCm39) N184S probably benign Het
Fam98c A G 7: 28,852,265 (GRCm39) M98T probably damaging Het
Fbn1 T C 2: 125,143,529 (GRCm39) K2867E probably benign Het
Fsip2 A T 2: 82,820,107 (GRCm39) E5280V possibly damaging Het
Fuom T C 7: 139,679,631 (GRCm39) probably benign Het
Gm3476 A T 14: 6,118,512 (GRCm38) S204T probably benign Het
Grhl3 A G 4: 135,288,617 (GRCm39) F23L probably benign Het
Il4i1 G T 7: 44,489,213 (GRCm39) R334L probably damaging Het
Ipo13 A G 4: 117,758,228 (GRCm39) S712P probably damaging Het
Lama4 G T 10: 38,932,843 (GRCm39) S573I probably damaging Het
Lrp11 A G 10: 7,480,058 (GRCm39) H371R probably benign Het
Mkln1 T A 6: 31,466,303 (GRCm39) I520N probably damaging Het
Nagpa G T 16: 5,016,480 (GRCm39) C236* probably null Het
Nktr A G 9: 121,556,436 (GRCm39) N38S probably damaging Het
Nlrp10 G A 7: 108,525,088 (GRCm39) R131C probably benign Het
Nxpe2 T C 9: 48,231,211 (GRCm39) D386G possibly damaging Het
Prpf39 T A 12: 65,100,740 (GRCm39) probably benign Het
Retreg2 A G 1: 75,121,755 (GRCm39) probably benign Het
S100a4 G T 3: 90,513,084 (GRCm39) S60I possibly damaging Het
Slc12a3 G T 8: 95,059,905 (GRCm39) G184C probably damaging Het
Slc25a46 C T 18: 31,742,807 (GRCm39) D20N possibly damaging Het
Smc3 A G 19: 53,622,509 (GRCm39) K695E probably benign Het
Speer2 A T 16: 69,653,955 (GRCm39) probably null Het
Taar4 T G 10: 23,836,936 (GRCm39) V182G possibly damaging Het
Ttll1 C G 15: 83,386,326 (GRCm39) S93T probably benign Het
Ubl3 A T 5: 148,443,008 (GRCm39) probably null Het
Vmn2r16 A G 5: 109,508,643 (GRCm39) N457S probably benign Het
Vmn2r72 T C 7: 85,398,396 (GRCm39) E528G probably benign Het
Zfp52 A C 17: 21,780,311 (GRCm39) E53A probably damaging Het
Other mutations in Akap12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00712:Akap12 APN 10 4,357,164 (GRCm38) missense probably benign 0.09
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
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
Predicted Primers PCR Primer
(F):5'- CGTCCAGCTACTCACTGTCAAGAAG -3'
(R):5'- TTCCGTTGCCAAAGGAGCACAC -3'

Sequencing Primer
(F):5'- TTCAAGCCGAATCTGGTCAAG -3'
(R):5'- GGAGCACACTTCTCCGAC -3'
Posted On 2014-01-29