Incidental Mutation 'R5620:Akap1'
ID 439799
Institutional Source Beutler Lab
Gene Symbol Akap1
Ensembl Gene ENSMUSG00000018428
Gene Name A kinase anchor protein 1
Synonyms DAKAP1, S-AKAP84, AKAP84, AKAP121
MMRRC Submission 043160-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5620 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 88721618-88755412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88736343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 106 (N106K)
Ref Sequence ENSEMBL: ENSMUSP00000122295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018572] [ENSMUST00000107903] [ENSMUST00000107904] [ENSMUST00000143720]
AlphaFold O08715
Predicted Effect probably benign
Transcript: ENSMUST00000018572
AA Change: N106K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: N106K

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 benign
Transcript: ENSMUST00000107903
AA Change: N106K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: N106K

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 benign
Transcript: ENSMUST00000107904
AA Change: N139K

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: N139K

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 possibly damaging
Transcript: ENSMUST00000143720
AA Change: N106K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: N106K

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
Predicted Effect probably benign
Transcript: ENSMUST00000153787
SMART Domains Protein: ENSMUSP00000123018
Gene: ENSMUSG00000018428

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153961
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,246,826 (GRCm39) S511A probably benign Het
Abca3 C T 17: 24,615,444 (GRCm39) T845I probably benign Het
Acaa2 G A 18: 74,938,945 (GRCm39) A377T possibly damaging Het
Adcy4 C A 14: 56,009,824 (GRCm39) E743* probably null Het
Ahnak T A 19: 8,990,458 (GRCm39) L3914* probably null Het
Arid2 C T 15: 96,270,387 (GRCm39) T1500I probably benign Het
Atp6v0a2 T A 5: 124,783,909 (GRCm39) Y252* probably null Het
C4bp A G 1: 130,581,090 (GRCm39) S140P probably damaging Het
Cald1 A G 6: 34,739,047 (GRCm39) I384M probably damaging Het
Cdk12 A G 11: 98,101,809 (GRCm39) I556V unknown Het
Chmp2a T C 7: 12,766,237 (GRCm39) S174G probably benign Het
Clybl T A 14: 122,548,755 (GRCm39) N52K probably damaging Het
Cyp4a29 C A 4: 115,108,088 (GRCm39) S303R probably benign Het
Dab2 T A 15: 6,447,796 (GRCm39) D59E probably damaging Het
Dag1 C A 9: 108,086,214 (GRCm39) R309L probably damaging Het
Dync1i2 T A 2: 71,088,483 (GRCm39) M505K probably benign Het
Eif2b1 A T 5: 124,717,075 (GRCm39) M1K probably null Het
Epc1 A G 18: 6,448,917 (GRCm39) S577P probably benign Het
Eps8l1 T A 7: 4,463,945 (GRCm39) I23N possibly damaging Het
Etl4 A G 2: 20,535,037 (GRCm39) E164G probably damaging Het
Firrm C A 1: 163,789,613 (GRCm39) G641* probably null Het
Gadl1 A T 9: 115,766,230 (GRCm39) M1L probably benign Het
Gda T C 19: 21,374,908 (GRCm39) D336G probably damaging Het
Grm2 A T 9: 106,527,645 (GRCm39) V413D probably damaging Het
Hnrnpll G T 17: 80,346,051 (GRCm39) N403K probably damaging Het
Ifit1 T A 19: 34,625,238 (GRCm39) F125I probably damaging Het
Igkv5-43 C T 6: 69,800,892 (GRCm39) V2I probably benign Het
Kat5 A C 19: 5,659,507 (GRCm39) Y44* probably null Het
Klc2 A G 19: 5,162,884 (GRCm39) V205A probably damaging Het
Klrb1c T A 6: 128,761,706 (GRCm39) T133S possibly damaging Het
Krt20 A G 11: 99,326,283 (GRCm39) L157P probably damaging Het
Krt26 G T 11: 99,228,597 (GRCm39) T45N possibly damaging Het
Lama2 C T 10: 26,866,876 (GRCm39) D2873N probably damaging Het
Lig1 T A 7: 13,020,532 (GRCm39) C114S possibly damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Maml2 A T 9: 13,608,616 (GRCm39) R21S probably damaging Het
Mrpl35 C T 6: 71,794,720 (GRCm39) V83I probably benign Het
Myo3b A G 2: 70,069,254 (GRCm39) R498G probably benign Het
Nup153 C A 13: 46,837,482 (GRCm39) E1247* probably null Het
Or2t48 A T 11: 58,420,557 (GRCm39) M85K probably damaging Het
Pcdhac2 A G 18: 37,277,257 (GRCm39) N79S probably benign Het
Pcgf6 C T 19: 47,036,406 (GRCm39) G221D probably damaging Het
Phf11b C T 14: 59,558,953 (GRCm39) D260N probably benign Het
Pla2g5 T C 4: 138,531,921 (GRCm39) M28V possibly damaging Het
Prpf8 T C 11: 75,395,927 (GRCm39) S1934P possibly damaging Het
Prr5 A G 15: 84,640,570 (GRCm39) S140G probably benign Het
Prrc2c T C 1: 162,501,098 (GRCm39) D1235G probably damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rassf8 C T 6: 145,765,907 (GRCm39) probably benign Het
Rgs20 T A 1: 4,982,666 (GRCm39) E167D probably damaging Het
Rmnd1 G T 10: 4,372,159 (GRCm39) A180E probably damaging Het
Rnf103 A G 6: 71,486,992 (GRCm39) D541G probably benign Het
Rpl9 G T 5: 65,546,468 (GRCm39) Q140K probably benign Het
Sfmbt1 T G 14: 30,506,148 (GRCm39) probably null Het
Shank1 C A 7: 43,962,160 (GRCm39) D10E unknown Het
Srrm4 G T 5: 116,587,672 (GRCm39) probably benign Het
Sucla2 T A 14: 73,832,836 (GRCm39) V447E probably damaging Het
Tbc1d1 A G 5: 64,331,055 (GRCm39) D78G probably benign Het
Tcp1 T A 17: 13,138,224 (GRCm39) probably null Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Thsd7b G A 1: 130,090,673 (GRCm39) probably null Het
Tmem63a A G 1: 180,797,811 (GRCm39) M621V probably benign Het
Tnxb A T 17: 34,936,504 (GRCm39) K2756* probably null Het
Trpm8 G A 1: 88,287,373 (GRCm39) probably null Het
Txndc16 C A 14: 45,373,335 (GRCm39) V764F possibly damaging Het
Ush2a A T 1: 188,492,020 (GRCm39) D3103V possibly damaging Het
Usp22 A T 11: 61,049,206 (GRCm39) I381N probably damaging Het
Zfp462 T A 4: 55,013,464 (GRCm39) M1810K probably benign Het
Zfp64 T A 2: 168,741,888 (GRCm39) M347L possibly damaging Het
Zfp69 T C 4: 120,787,719 (GRCm39) D532G probably damaging 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
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
R5932:Akap1 UTSW 11 88,722,585 (GRCm39) missense probably damaging 1.00
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'- ACACTCCTGGGACAATAGGC -3'
(R):5'- TGGAGACACTGAAGGTTGGC -3'

Sequencing Primer
(F):5'- TGGGACAATAGGCCTTCCTCAG -3'
(R):5'- ACACTGAAGGTTGGCCCTGC -3'
Posted On 2016-11-08