Incidental Mutation 'P0012:Akap3'
| ID |
7560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap3
|
| Ensembl Gene |
ENSMUSG00000030344 |
| Gene Name |
A kinase anchor protein 3 |
| Synonyms |
|
| MMRRC Submission |
038266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
P0012 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126830061-126851271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126841564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 61
(F61S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095440]
[ENSMUST00000202574]
[ENSMUST00000202878]
|
| AlphaFold |
O88987 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095440
AA Change: F61S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: F61S
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202574
AA Change: F61S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: F61S
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202878
AA Change: F61S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: F61S
| Domain | Start | End | E-Value | Type |
|---|
|
AKAP_110
|
5 |
864 |
N/A |
SMART |
|
| Meta Mutation Damage Score |
0.1185 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 81.0%
- 10x: 67.7%
- 20x: 52.2%
|
| Validation Efficiency |
85% (579/685) |
| 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: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
C |
7: 82,223,465 (GRCm39) |
N156T |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,500,608 (GRCm39) |
V379A |
probably benign |
Het |
| Ces1h |
T |
C |
8: 94,080,138 (GRCm39) |
K459E |
unknown |
Het |
| Fbn1 |
T |
C |
2: 125,211,241 (GRCm39) |
|
probably benign |
Het |
| Hrh2 |
T |
C |
13: 54,368,447 (GRCm39) |
F141S |
probably benign |
Het |
| Igkv3-4 |
A |
T |
6: 70,649,231 (GRCm39) |
N77Y |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,173,478 (GRCm39) |
M496T |
possibly damaging |
Het |
| Tas2r124 |
T |
C |
6: 132,732,503 (GRCm39) |
Y271H |
possibly damaging |
Het |
| Tnfrsf11b |
A |
G |
15: 54,123,194 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Akap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Protein Function and Prediction |
A-kinase anchor protein 3 (Akap3; alternatively, Akap110, fibrous sheath protein (FSP)95, or sperm oocyte-binding protein 1 (SOB1)) is a member of the AKAP family of proteins that are proposed to serve as scaffolding proteins to facilitate signal transduction (1). Colocalization with cAMP-dependent protein kinase A (PKA) regulatory subunits suggests that Akap3 may function to regulate motility- and head-associated functions (e.g., capacitation and the acrosome reaction) (1).
|
| Expression/Localization |
Akap3 is the predominant Akap family member expressed in sperm lysates (1). Also, Northern blot analysis of several mouse tissues revealed that Akap3 is only expressed in the testis (1;2). Subsequent in situ hybridization detected Akap3 in round spermatids (1).
|
| References |
1. Vijayaraghavan, S., Liberty, G. A., Mohan, J., Winfrey, V. P., Olson, G. E., and Carr, D. W. (1999) Isolation and Molecular Characterization of AKAP110, a Novel, Sperm-Specific Protein Kinase A-Anchoring Protein. Mol Endocrinol. 13, 705-717.
2. Lefevre, A., Duquenne, C., Rousseau-Merck, M. F., Rogier, E., and Finaz, C. (1999) Cloning and Characterization of SOB1, a New Testis-Specific cDNA Encoding a Human Sperm Protein Probably Involved in Oocyte Recognition. Biochem Biophys Res Commun. 259, 60-66. |
| Posted On |
2012-10-04 |
| Science Writer |
Anne Murray |
Incidental Mutation