Incidental Mutation 'R1438:Akap1'
ID 160794
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 039493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 88721618-88755412 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 88735577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 362 (G362*)
Ref Sequence ENSEMBL: ENSMUSP00000122295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018572] [ENSMUST00000107903] [ENSMUST00000107904] [ENSMUST00000143720]
AlphaFold O08715
Predicted Effect probably null
Transcript: ENSMUST00000018572
AA Change: G362*
SMART Domains Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: G362*

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 null
Transcript: ENSMUST00000107903
AA Change: G362*
SMART Domains Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: G362*

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 null
Transcript: ENSMUST00000107904
AA Change: G395*
SMART Domains Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: G395*

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 null
Transcript: ENSMUST00000143720
AA Change: G362*
SMART Domains Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: G362*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T 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
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
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'- CTGCCCCAAGGAGCTAACTGAAAG -3'
(R):5'- ACGAGACCGTGCCTGAAAATGAC -3'

Sequencing Primer
(F):5'- TACAGGCGACAAAGTTGTCATC -3'
(R):5'- TGCCTGAAAATGACCAGATTAAGC -3'
Posted On 2014-03-14