Incidental Mutation 'R5847:Akap3'
ID 453672
Institutional Source Beutler Lab
Gene Symbol Akap3
Ensembl Gene ENSMUSG00000030344
Gene Name A kinase anchor protein 3
Synonyms
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 126830061-126851271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126842521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 380 (L380Q)
Ref Sequence ENSEMBL: ENSMUSP00000143794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095440] [ENSMUST00000202574] [ENSMUST00000202878]
AlphaFold O88987
Predicted Effect probably damaging
Transcript: ENSMUST00000095440
AA Change: L380Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: L380Q

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202574
AA Change: L380Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: L380Q

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202878
AA Change: L380Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: L380Q

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Meta Mutation Damage Score 0.5317 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably damaging Het
Other mutations in Akap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Akap3 APN 6 126,842,694 (GRCm39) missense probably benign 0.38
IGL01070:Akap3 APN 6 126,842,842 (GRCm39) missense possibly damaging 0.93
IGL01975:Akap3 APN 6 126,850,963 (GRCm39) missense probably damaging 1.00
IGL02114:Akap3 APN 6 126,842,959 (GRCm39) missense probably damaging 0.99
IGL02349:Akap3 APN 6 126,837,226 (GRCm39) missense probably benign 0.01
IGL03305:Akap3 APN 6 126,841,728 (GRCm39) missense probably benign
IGL03412:Akap3 APN 6 126,841,688 (GRCm39) missense probably benign 0.00
IGL03097:Akap3 UTSW 6 126,843,379 (GRCm39) missense probably damaging 1.00
P0012:Akap3 UTSW 6 126,841,564 (GRCm39) missense possibly damaging 0.87
R0358:Akap3 UTSW 6 126,843,775 (GRCm39) missense probably damaging 1.00
R1123:Akap3 UTSW 6 126,842,929 (GRCm39) missense probably benign 0.27
R1163:Akap3 UTSW 6 126,841,750 (GRCm39) missense probably damaging 1.00
R1458:Akap3 UTSW 6 126,842,517 (GRCm39) missense probably damaging 1.00
R1769:Akap3 UTSW 6 126,842,809 (GRCm39) missense possibly damaging 0.67
R1967:Akap3 UTSW 6 126,842,061 (GRCm39) missense probably benign 0.02
R4030:Akap3 UTSW 6 126,841,984 (GRCm39) missense probably damaging 1.00
R4618:Akap3 UTSW 6 126,843,406 (GRCm39) missense probably benign 0.31
R4677:Akap3 UTSW 6 126,842,226 (GRCm39) missense probably damaging 0.99
R4735:Akap3 UTSW 6 126,842,601 (GRCm39) missense probably damaging 1.00
R5660:Akap3 UTSW 6 126,842,254 (GRCm39) missense probably damaging 1.00
R5834:Akap3 UTSW 6 126,842,796 (GRCm39) missense probably benign 0.04
R6053:Akap3 UTSW 6 126,843,496 (GRCm39) missense probably damaging 0.98
R7007:Akap3 UTSW 6 126,843,439 (GRCm39) missense probably damaging 0.99
R7070:Akap3 UTSW 6 126,850,987 (GRCm39) missense probably damaging 1.00
R7123:Akap3 UTSW 6 126,843,267 (GRCm39) missense probably benign 0.05
R7173:Akap3 UTSW 6 126,841,729 (GRCm39) missense probably benign
R7238:Akap3 UTSW 6 126,842,200 (GRCm39) missense probably benign 0.00
R7437:Akap3 UTSW 6 126,842,618 (GRCm39) missense probably damaging 1.00
R7731:Akap3 UTSW 6 126,842,031 (GRCm39) missense probably benign 0.04
R7737:Akap3 UTSW 6 126,851,065 (GRCm39) missense probably damaging 1.00
R8073:Akap3 UTSW 6 126,842,736 (GRCm39) missense probably damaging 1.00
R8504:Akap3 UTSW 6 126,841,493 (GRCm39) missense probably damaging 1.00
R8755:Akap3 UTSW 6 126,843,130 (GRCm39) missense possibly damaging 0.77
R9440:Akap3 UTSW 6 126,841,591 (GRCm39) missense probably benign 0.00
R9579:Akap3 UTSW 6 126,850,974 (GRCm39) missense probably damaging 1.00
R9594:Akap3 UTSW 6 126,842,377 (GRCm39) missense probably damaging 1.00
R9761:Akap3 UTSW 6 126,842,200 (GRCm39) missense probably benign 0.00
X0028:Akap3 UTSW 6 126,842,880 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCTGAAGAAGGTGCTGATG -3'
(R):5'- AGTTTCGGCACACGTCTTC -3'

Sequencing Primer
(F):5'- GAAGCACGCAAAGGAGGTTGTC -3'
(R):5'- GGCACACGTCTTCTCTTTCTCTAG -3'
Posted On 2017-02-10