Incidental Mutation 'IGL02002:Akap8'
ID183102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap8
Ensembl Gene ENSMUSG00000024045
Gene NameA kinase (PRKA) anchor protein 8
Synonyms1200016A02Rik, AKAP95
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02002
Quality Score
Status
Chromosome17
Chromosomal Location32303676-32321153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32309496 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 481 (C481R)
Ref Sequence ENSEMBL: ENSMUSP00000002699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002699]
Predicted Effect probably damaging
Transcript: ENSMUST00000002699
AA Change: C481R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: C481R

DomainStartEndE-ValueType
SCOP:d1a0tp_ 12 108 3e-19 SMART
low complexity region 183 198 N/A INTRINSIC
low complexity region 257 270 N/A INTRINSIC
low complexity region 354 384 N/A INTRINSIC
ZnF_C2H2 387 411 9.46e0 SMART
Blast:ZnF_C2H2 476 501 9e-9 BLAST
low complexity region 551 582 N/A INTRINSIC
low complexity region 642 651 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable and overtly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Akap8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Akap8 APN 17 32317280 missense probably damaging 1.00
IGL01450:Akap8 APN 17 32315687 missense probably damaging 1.00
IGL02223:Akap8 APN 17 32316647 missense probably damaging 1.00
IGL02315:Akap8 APN 17 32305501 missense probably benign 0.01
IGL03404:Akap8 APN 17 32312276 splice site probably benign
R0310:Akap8 UTSW 17 32316260 missense possibly damaging 0.81
R0526:Akap8 UTSW 17 32317292 missense probably benign 0.28
R1795:Akap8 UTSW 17 32315477 missense probably damaging 1.00
R1992:Akap8 UTSW 17 32316612 missense probably damaging 0.99
R2571:Akap8 UTSW 17 32315455 missense probably damaging 1.00
R2918:Akap8 UTSW 17 32305648 missense probably benign 0.01
R3423:Akap8 UTSW 17 32316455 missense possibly damaging 0.61
R3870:Akap8 UTSW 17 32317839 unclassified probably benign
R4077:Akap8 UTSW 17 32312298 missense probably damaging 1.00
R4078:Akap8 UTSW 17 32312298 missense probably damaging 1.00
R4379:Akap8 UTSW 17 32306560 missense probably damaging 0.99
R4756:Akap8 UTSW 17 32316210 missense probably damaging 0.98
R4819:Akap8 UTSW 17 32312305 missense probably damaging 1.00
R5091:Akap8 UTSW 17 32316234 missense probably benign 0.05
R5761:Akap8 UTSW 17 32317185 missense possibly damaging 0.56
R6896:Akap8 UTSW 17 32317331 missense probably benign 0.00
R7138:Akap8 UTSW 17 32316541 missense possibly damaging 0.86
R7350:Akap8 UTSW 17 32316575 missense possibly damaging 0.92
X0020:Akap8 UTSW 17 32315750 missense probably benign 0.08
Posted On2014-05-07