Incidental Mutation 'R5043:Akap12'
ID 393307
Institutional Source Beutler Lab
Gene Symbol Akap12
Ensembl Gene ENSMUSG00000038587
Gene Name A kinase anchor protein 12
Synonyms Tsga12, Srcs5, SSeCKS
MMRRC Submission 042633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5043 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 4216380-4309470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 4305047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 619 (G619A)
Ref Sequence ENSEMBL: ENSMUSP00000150261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045730] [ENSMUST00000215696]
AlphaFold Q9WTQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000045730
AA Change: G724A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: G724A

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 damaging
Transcript: ENSMUST00000215696
AA Change: G619A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216139
Meta Mutation Damage Score 0.0917 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,980,910 (GRCm39) Y106* probably null Het
Acsbg3 A G 17: 57,192,198 (GRCm39) Y587C probably damaging Het
Arhgap29 A G 3: 121,767,653 (GRCm39) K32E probably benign Het
Capg T A 6: 72,535,237 (GRCm39) Y253* probably null Het
Cntnap3 A T 13: 64,942,162 (GRCm39) F189L probably damaging Het
Cp T C 3: 20,028,081 (GRCm39) S496P probably benign Het
Cxcl11 T C 5: 92,511,011 (GRCm39) probably null Het
Dennd3 T C 15: 73,399,785 (GRCm39) L217P probably benign Het
Dip2c G T 13: 9,601,863 (GRCm39) R274L possibly damaging Het
Dnah12 C T 14: 26,606,147 (GRCm39) S3776L probably damaging Het
Emcn A G 3: 137,097,362 (GRCm39) T94A possibly damaging Het
Fnip2 A T 3: 79,400,174 (GRCm39) Y397* probably null Het
Gabrp T C 11: 33,518,072 (GRCm39) N79D probably benign Het
Glmp T G 3: 88,233,983 (GRCm39) probably benign Het
Gm5921 C T 9: 115,267,087 (GRCm39) noncoding transcript Het
Gm6483 A G 8: 19,743,686 (GRCm39) T104A probably benign Het
Ifi206 A T 1: 173,314,284 (GRCm39) M52K probably damaging Het
Iqcc T C 4: 129,512,070 (GRCm39) probably benign Het
Klra2 T A 6: 131,197,135 (GRCm39) H288L probably benign Het
Myo5b T C 18: 74,771,224 (GRCm39) probably null Het
Nisch A G 14: 30,898,422 (GRCm39) probably benign Het
Nlrp4c A G 7: 6,069,824 (GRCm39) N575S probably benign Het
Or1n2 A C 2: 36,796,977 (GRCm39) R6S probably benign Het
Or8b49 A G 9: 38,506,137 (GRCm39) I207V probably damaging Het
Phlda1 T A 10: 111,343,152 (GRCm39) L296Q unknown Het
Pramel19 T C 4: 101,797,721 (GRCm39) F40L possibly damaging Het
Rab36 G A 10: 74,886,837 (GRCm39) E182K probably benign Het
Rasa3 G A 8: 13,620,368 (GRCm39) T767M possibly damaging Het
Serpinb11 G A 1: 107,297,195 (GRCm39) V24M probably damaging Het
Slc7a14 T G 3: 31,291,615 (GRCm39) N221T probably damaging Het
Smg6 T C 11: 74,820,721 (GRCm39) S331P possibly damaging Het
Snx1 C T 9: 66,004,718 (GRCm39) A183T probably benign Het
Srpk2 T C 5: 23,729,515 (GRCm39) T375A probably benign Het
Tecpr1 T C 5: 144,134,672 (GRCm39) probably null Het
Topaz1 A T 9: 122,577,469 (GRCm39) E126D probably benign Het
Ugt2b1 C G 5: 87,065,503 (GRCm39) C512S possibly damaging Het
Ugt2b37 C T 5: 87,399,719 (GRCm39) W263* probably null Het
Utp20 A T 10: 88,634,608 (GRCm39) M750K possibly damaging Het
Yeats2 A T 16: 20,027,215 (GRCm39) Q822L probably damaging Het
Zfp609 T C 9: 65,608,109 (GRCm39) Y1257C 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
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
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'- ACTTCAGTGTCTTGGGAGGC -3'
(R):5'- CCGCCGTCCAGGAATAAATTTC -3'

Sequencing Primer
(F):5'- CGTTGATTTGTGTCGGATCGTCC -3'
(R):5'- GGAAACCCAAGATTCCTCTCTACTTG -3'
Posted On 2016-06-15