Incidental Mutation 'R7007:Akap3'
ID 544768
Institutional Source Beutler Lab
Gene Symbol Akap3
Ensembl Gene ENSMUSG00000030344
Gene Name A kinase anchor protein 3
Synonyms
MMRRC Submission 045109-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7007 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 126830061-126851271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126843439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 686 (D686G)
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: D686G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: D686G

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202574
AA Change: D686G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: D686G

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202878
AA Change: D686G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: D686G

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,121 (GRCm39) T57I probably benign Het
Adcy8 T C 15: 64,576,565 (GRCm39) N999S possibly damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Alg2 A T 4: 47,471,881 (GRCm39) I309N probably benign Het
Ankrd36 A G 11: 5,639,168 (GRCm39) E1360G probably benign Het
Aox1 C A 1: 58,370,051 (GRCm39) Q788K probably damaging Het
Apoc2 A T 7: 19,407,282 (GRCm39) D26E possibly damaging Het
Bbx G A 16: 50,022,851 (GRCm39) T703I possibly damaging Het
C2cd4d T C 3: 94,271,378 (GRCm39) Y215H probably benign Het
C3 C T 17: 57,525,809 (GRCm39) E858K probably benign Het
Ciita T C 16: 10,329,171 (GRCm39) L482P probably damaging Het
Cldn9 T C 17: 23,902,052 (GRCm39) E191G probably benign Het
Cnst T A 1: 179,438,133 (GRCm39) S566T probably damaging Het
Col5a2 A G 1: 45,417,609 (GRCm39) I1322T possibly damaging Het
Cp G A 3: 20,024,137 (GRCm39) V326M probably damaging Het
Cyp7b1 G A 3: 18,151,782 (GRCm39) Q144* probably null Het
Dnah10 T C 5: 124,864,490 (GRCm39) S2232P probably damaging Het
Dnah17 T C 11: 118,009,697 (GRCm39) E625G possibly damaging Het
Dnah7c T A 1: 46,571,910 (GRCm39) D794E probably benign Het
Dusp10 G A 1: 183,769,414 (GRCm39) V127M probably benign Het
Dysf G C 6: 84,090,962 (GRCm39) W1015C probably damaging Het
Fbxw17 T C 13: 50,577,808 (GRCm39) Y104H probably damaging Het
Gm6408 G A 5: 146,420,647 (GRCm39) E176K probably damaging Het
Gp1bb T A 16: 18,439,689 (GRCm39) D135V possibly damaging Het
Gprin1 C T 13: 54,886,069 (GRCm39) C735Y probably damaging Het
Heatr9 T A 11: 83,411,446 (GRCm39) M30L possibly damaging Het
Hhat G A 1: 192,376,134 (GRCm39) T333I possibly damaging Het
Htr5b A G 1: 121,438,223 (GRCm39) F336S probably damaging Het
Ippk T G 13: 49,590,181 (GRCm39) probably null Het
Jph1 T A 1: 17,074,410 (GRCm39) H11L possibly damaging Het
Kif12 T A 4: 63,084,717 (GRCm39) I534L probably benign Het
Lemd3 A T 10: 120,788,137 (GRCm39) F523I probably benign Het
Lgsn C A 1: 31,229,508 (GRCm39) H76Q probably benign Het
Lipm T A 19: 34,089,497 (GRCm39) W152R probably damaging Het
Mei1 A T 15: 81,978,200 (GRCm39) R216W probably damaging Het
Mybpc1 C T 10: 88,389,274 (GRCm39) G379S probably damaging Het
Myh8 A G 11: 67,179,142 (GRCm39) T512A probably benign Het
Nf1 A G 11: 79,337,849 (GRCm39) probably null Het
Npc1 T C 18: 12,343,605 (GRCm39) T463A probably benign Het
Or12e10 A G 2: 87,640,230 (GRCm39) N22S probably damaging Het
Or2y13 G A 11: 49,415,011 (GRCm39) V154M probably benign Het
Or6c7 A T 10: 129,323,277 (GRCm39) I133F probably damaging Het
Osbpl11 T G 16: 33,047,309 (GRCm39) I424R possibly damaging Het
Pnma8b A T 7: 16,680,181 (GRCm39) K388N possibly damaging Het
Ppp1r26 A T 2: 28,341,171 (GRCm39) K267I probably damaging Het
Psmb5 A T 14: 54,854,166 (GRCm39) M104K probably damaging Het
Ptges2 T C 2: 32,292,318 (GRCm39) V378A probably benign Het
Rcan2 C T 17: 44,147,216 (GRCm39) S18F probably benign Het
Saxo5 A T 8: 3,526,309 (GRCm39) D154V probably damaging Het
Sf3b2 C T 19: 5,324,545 (GRCm39) R859Q probably benign Het
Slc7a1 G A 5: 148,289,256 (GRCm39) Het
Spata31d1a T A 13: 59,851,448 (GRCm39) T227S probably benign Het
Sptbn2 T A 19: 4,794,173 (GRCm39) V1459E possibly damaging Het
Srgap2 T C 1: 131,247,275 (GRCm39) I586V probably benign Het
St6galnac1 G A 11: 116,657,833 (GRCm39) R356* probably null Het
Taf5 T A 19: 47,059,650 (GRCm39) F265I probably damaging Het
Tkfc T A 19: 10,573,727 (GRCm39) I229L probably benign Het
Tmem132c T A 5: 127,436,679 (GRCm39) L56Q probably damaging Het
Togaram2 C T 17: 72,016,638 (GRCm39) A665V probably damaging Het
Ttn G A 2: 76,537,390 (GRCm39) T34846I probably benign Het
Tyr G A 7: 87,142,548 (GRCm39) A4V probably benign Het
Ubap2 A C 4: 41,206,221 (GRCm39) F549L probably damaging Het
Usp2 T C 9: 44,001,339 (GRCm39) S294P probably damaging Het
Vrk3 A G 7: 44,407,187 (GRCm39) N53D probably damaging Het
Zfp324 T C 7: 12,705,142 (GRCm39) S444P probably damaging Het
Zfp597 T C 16: 3,683,791 (GRCm39) I322V probably benign 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
R5847:Akap3 UTSW 6 126,842,521 (GRCm39) missense probably damaging 1.00
R6053:Akap3 UTSW 6 126,843,496 (GRCm39) missense probably damaging 0.98
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'- ACCCGTGTGAAAGGCCTAAG -3'
(R):5'- ACCTTGGGGATTTCACAGC -3'

Sequencing Primer
(F):5'- GACTCCATGTGAAAGGCCTATTAC -3'
(R):5'- ACCTCTCAGTTCATTATGGATGG -3'
Posted On 2019-05-13