Incidental Mutation 'R5932:Akap1'
ID 461949
Institutional Source Beutler Lab
Gene Symbol Akap1
Ensembl Gene ENSMUSG00000018428
Gene Name A kinase anchor protein 1
Synonyms DAKAP1, S-AKAP84, AKAP84, AKAP121
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5932 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 88721618-88755412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88722585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 890 (L890P)
Ref Sequence ENSEMBL: ENSMUSP00000103537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018572] [ENSMUST00000107903] [ENSMUST00000107904] [ENSMUST00000143720]
AlphaFold O08715
Predicted Effect probably damaging
Transcript: ENSMUST00000018572
AA Change: L857P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: L857P

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 27 38 N/A INTRINSIC
low complexity region 449 462 N/A INTRINSIC
KH 560 630 1.59e-10 SMART
low complexity region 639 651 N/A INTRINSIC
TUDOR 710 769 5.32e-12 SMART
low complexity region 778 790 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107903
AA Change: L857P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: L857P

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 27 38 N/A INTRINSIC
low complexity region 449 462 N/A INTRINSIC
KH 560 630 1.59e-10 SMART
low complexity region 639 651 N/A INTRINSIC
TUDOR 710 769 5.32e-12 SMART
low complexity region 778 790 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107904
AA Change: L890P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: L890P

DomainStartEndE-ValueType
transmembrane domain 40 59 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 482 495 N/A INTRINSIC
KH 593 663 1.59e-10 SMART
low complexity region 672 684 N/A INTRINSIC
TUDOR 743 802 5.32e-12 SMART
low complexity region 811 823 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143720
SMART Domains Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 27 38 N/A INTRINSIC
Pfam:RII_binding_1 305 322 5.5e-5 PFAM
low complexity region 449 462 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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 binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation. [provided by MGI curators]
Allele List at MGI

All alleles(49) : Targeted(3) Gene trapped(46)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,870,518 (GRCm39) S7T possibly damaging Het
Aatk C T 11: 119,912,359 (GRCm39) G29S probably damaging Het
Akap13 T A 7: 75,259,932 (GRCm39) M49K probably damaging Het
Ankrd17 A T 5: 90,413,295 (GRCm39) N1206K probably damaging Het
Bbs7 G A 3: 36,636,847 (GRCm39) T480I probably benign Het
Bbs9 A G 9: 22,723,627 (GRCm39) E769G probably damaging Het
Bpgm T A 6: 34,464,860 (GRCm39) S192R probably damaging Het
Brinp1 C A 4: 68,711,178 (GRCm39) K343N probably benign Het
Cabyr T G 18: 12,887,407 (GRCm39) V185G probably damaging Het
Cadm1 C A 9: 47,710,749 (GRCm39) D217E probably damaging Het
Camk1g T A 1: 193,036,347 (GRCm39) E171V probably benign Het
Casz1 T A 4: 149,023,570 (GRCm39) M825K possibly damaging Het
Ccdc27 A G 4: 154,111,231 (GRCm39) V627A probably benign Het
Ccdc40 T G 11: 119,141,838 (GRCm39) I808R probably damaging Het
Cdh23 G A 10: 60,228,763 (GRCm39) R1140C probably damaging Het
Celsr1 A G 15: 85,916,905 (GRCm39) V356A probably damaging Het
Cep126 T A 9: 8,103,509 (GRCm39) D167V probably damaging Het
Chmp4b C T 2: 154,533,201 (GRCm39) T147I probably benign Het
Clstn3 A T 6: 124,415,291 (GRCm39) M728K probably benign Het
Col7a1 A T 9: 108,809,279 (GRCm39) E2618V unknown Het
Cplane1 T A 15: 8,274,079 (GRCm39) probably null Het
Crls1 T A 2: 132,706,087 (GRCm39) Y170* probably null Het
Dennd2b G A 7: 109,169,223 (GRCm39) T24M probably damaging Het
Epas1 T G 17: 87,135,074 (GRCm39) I569S possibly damaging Het
Fhl3 T C 4: 124,599,520 (GRCm39) Y32H probably damaging Het
Fibp G A 19: 5,514,453 (GRCm39) G333D probably benign Het
Frmd4a C T 2: 4,534,650 (GRCm39) T156I probably damaging Het
Gcn1 T C 5: 115,730,435 (GRCm39) L873P possibly damaging Het
Gpr141b C A 13: 19,913,646 (GRCm39) noncoding transcript Het
Hectd3 G A 4: 116,859,470 (GRCm39) R698H possibly damaging Het
Il17a T C 1: 20,803,977 (GRCm39) V124A probably damaging Het
Kif14 A T 1: 136,444,128 (GRCm39) E1373D probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Kmt2a T C 9: 44,731,944 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Lamb2 T C 9: 108,357,810 (GRCm39) I111T probably damaging Het
Lrch3 A T 16: 32,796,106 (GRCm39) D204V probably damaging Het
Mansc1 C A 6: 134,587,478 (GRCm39) R233L possibly damaging Het
Mkrn3 A G 7: 62,068,655 (GRCm39) C379R probably damaging Het
Ncoa3 T A 2: 165,912,045 (GRCm39) probably null Het
Neu3 A T 7: 99,462,525 (GRCm39) C399* probably null Het
Or10ad1 T G 15: 98,105,296 (GRCm39) *323S probably null Het
Or52e8 G A 7: 104,624,862 (GRCm39) T114M probably damaging Het
Pcare T C 17: 72,058,748 (GRCm39) R310G probably damaging Het
Pde5a T C 3: 122,634,693 (GRCm39) F713L probably benign Het
Pdk1 T A 2: 71,713,760 (GRCm39) probably null Het
Plin4 A G 17: 56,413,356 (GRCm39) V423A possibly damaging Het
Pstpip1 T A 9: 56,033,214 (GRCm39) Y249N probably damaging Het
Ptprf A T 4: 118,068,964 (GRCm39) C1673S probably benign Het
Pum1 A G 4: 130,457,677 (GRCm39) T230A probably benign Het
Qsox1 A T 1: 155,665,079 (GRCm39) D287E probably benign Het
Rad51ap2 A G 12: 11,508,387 (GRCm39) N770D probably damaging Het
Rtp3 T A 9: 110,815,760 (GRCm39) I202F probably benign Het
Slc26a4 C T 12: 31,585,248 (GRCm39) probably null Het
Spmip7 A G 11: 11,438,513 (GRCm39) probably benign Het
Sptbn1 C G 11: 30,086,136 (GRCm39) V1191L probably damaging Het
Tead2 T C 7: 44,882,323 (GRCm39) Y121H probably benign Het
Thsd7b T C 1: 129,358,575 (GRCm39) L3P probably benign Het
Trim24 T C 6: 37,934,010 (GRCm39) I651T probably damaging Het
Usp2 A G 9: 44,003,630 (GRCm39) I481V probably benign Het
Vps13d C A 4: 144,771,611 (GRCm39) V4056F possibly damaging Het
Yeats2 A G 16: 20,011,913 (GRCm39) E496G probably benign Het
Zap70 A G 1: 36,820,227 (GRCm39) K503E probably damaging Het
Zbtb46 A G 2: 181,053,713 (GRCm39) L333P probably benign Het
Zfc3h1 A T 10: 115,236,815 (GRCm39) T430S probably benign Het
Zfp618 C T 4: 63,036,803 (GRCm39) R368* probably null Het
Other mutations in Akap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Akap1 APN 11 88,735,080 (GRCm39) splice site probably null
IGL01333:Akap1 APN 11 88,736,431 (GRCm39) missense probably damaging 0.99
IGL01701:Akap1 APN 11 88,735,958 (GRCm39) missense probably benign 0.03
IGL01920:Akap1 APN 11 88,730,459 (GRCm39) missense probably damaging 1.00
IGL02980:Akap1 UTSW 11 88,735,990 (GRCm39) missense probably benign
PIT4305001:Akap1 UTSW 11 88,735,204 (GRCm39) missense probably benign
R0049:Akap1 UTSW 11 88,730,450 (GRCm39) critical splice donor site probably null
R0049:Akap1 UTSW 11 88,730,450 (GRCm39) critical splice donor site probably null
R0278:Akap1 UTSW 11 88,736,020 (GRCm39) missense probably benign 0.19
R1437:Akap1 UTSW 11 88,735,577 (GRCm39) nonsense probably null
R1438:Akap1 UTSW 11 88,735,577 (GRCm39) nonsense probably null
R1439:Akap1 UTSW 11 88,735,577 (GRCm39) nonsense probably null
R1569:Akap1 UTSW 11 88,724,006 (GRCm39) missense probably benign 0.02
R1611:Akap1 UTSW 11 88,736,104 (GRCm39) missense probably benign 0.27
R1757:Akap1 UTSW 11 88,736,578 (GRCm39) missense probably damaging 1.00
R2328:Akap1 UTSW 11 88,735,870 (GRCm39) missense possibly damaging 0.46
R2897:Akap1 UTSW 11 88,735,605 (GRCm39) nonsense probably null
R3730:Akap1 UTSW 11 88,736,008 (GRCm39) missense possibly damaging 0.82
R4868:Akap1 UTSW 11 88,735,379 (GRCm39) missense possibly damaging 0.83
R5620:Akap1 UTSW 11 88,736,343 (GRCm39) missense possibly damaging 0.82
R5645:Akap1 UTSW 11 88,736,453 (GRCm39) missense probably benign 0.01
R5886:Akap1 UTSW 11 88,725,486 (GRCm39) critical splice donor site probably null
R6284:Akap1 UTSW 11 88,735,394 (GRCm39) missense possibly damaging 0.66
R6555:Akap1 UTSW 11 88,735,708 (GRCm39) missense probably damaging 1.00
R7234:Akap1 UTSW 11 88,729,808 (GRCm39) missense probably damaging 1.00
R7436:Akap1 UTSW 11 88,736,354 (GRCm39) missense probably damaging 1.00
R7759:Akap1 UTSW 11 88,736,659 (GRCm39) missense probably damaging 1.00
R8356:Akap1 UTSW 11 88,725,557 (GRCm39) critical splice acceptor site probably null
R8456:Akap1 UTSW 11 88,725,557 (GRCm39) critical splice acceptor site probably null
R8796:Akap1 UTSW 11 88,730,498 (GRCm39) missense probably damaging 1.00
R8948:Akap1 UTSW 11 88,735,099 (GRCm39) missense probably damaging 1.00
R9006:Akap1 UTSW 11 88,723,996 (GRCm39) missense possibly damaging 0.83
R9116:Akap1 UTSW 11 88,723,165 (GRCm39) missense probably damaging 1.00
R9174:Akap1 UTSW 11 88,725,991 (GRCm39) missense probably damaging 1.00
R9294:Akap1 UTSW 11 88,727,966 (GRCm39) missense probably damaging 1.00
Z1176:Akap1 UTSW 11 88,727,993 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- CTTTGAAAGAACACACAGGTCC -3'
(R):5'- CCAGAGGGCACAACATTTGAG -3'

Sequencing Primer
(F):5'- CTCCACAGGACTACAGAATG -3'
(R):5'- ACATTTGAGTAAGAACCCTGTTGTGG -3'
Posted On 2017-02-28