Incidental Mutation 'ANU23:Akap12'
ID 262644
Institutional Source Beutler Lab
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 # ANU23
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 4216380-4309470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4303273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 28 (A28S)
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: A133S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: A133S

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: A28S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216139
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 98.2%
  • 10x: 96.6%
  • 20x: 93.8%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Cacna1g G A 11: 94,357,054 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 G C 14: 55,749,459 (GRCm39) M6I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Gpatch3 CAGGAGGAGGAGGAGGAG CAGGAGGAGGAGGAG 4: 133,305,613 (GRCm39) probably benign Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Idh3a T A 9: 54,493,829 (GRCm39) probably null Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mcm7 C T 5: 138,168,653 (GRCm39) V13I probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn1r159 A G 7: 22,542,588 (GRCm39) V148A probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Zfp334 T C 2: 165,223,017 (GRCm39) H342R 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
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
Predicted Primers PCR Primer
(F):5'- GGAGAGTGTTACGCTTGTTGAACAAAG -3'
(R):5'- TTGACCAGATTCGGCTTGAAGGG -3'

Sequencing Primer
(F):5'- CGCTTGTTGAACAAAGTAATTTTCCC -3'
(R):5'- TGGATGCTGATTCGCCGAC -3'
Posted On 2015-02-04