Incidental Mutation 'R2243:Akap10'
| ID |
240737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap10
|
| Ensembl Gene |
ENSMUSG00000047804 |
| Gene Name |
A kinase anchor protein 10 |
| Synonyms |
B130049N18Rik, D-AKAP2, 1500031L16Rik |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.718)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61762133-61821078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61806327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 134
(V134F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058173]
[ENSMUST00000102650]
[ENSMUST00000108710]
|
| AlphaFold |
O88845 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058173
AA Change: V55F
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: V55F
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
46 |
290 |
1.82e-30 |
SMART |
|
RGS
|
300 |
426 |
9.62e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102650
AA Change: V134F
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: V134F
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
125 |
369 |
1.82e-30 |
SMART |
|
RGS
|
379 |
505 |
9.62e-30 |
SMART |
|
PDB:3TMH|L
|
623 |
662 |
2e-18 |
PDB |
|
Blast:S_TKc
|
636 |
661 |
1e-5 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108710
AA Change: V134F
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: V134F
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
125 |
369 |
1.82e-30 |
SMART |
|
RGS
|
379 |
505 |
9.62e-30 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: 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 localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. It has been reported that this protein is important for maintaining heart rate and myocardial contractility through its targeting of protein kinase A. In mouse, defects of this gene lead to cardiac arrhythmias and premature death. In humans, polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele display sinus arrhythmia, sinus pauses, and atrioventricular heart block indicating excessive vagus nerve sensitivity; about 50% of homozygous and 25% of heterozygous mutant mice die in the first year of life, and survival is sensitive to genetic background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dnaaf2 |
T |
G |
12: 69,243,418 (GRCm39) |
T548P |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,667,146 (GRCm39) |
Y128C |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,001 (GRCm39) |
M119K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Klhdc10 |
A |
G |
6: 30,449,558 (GRCm39) |
T207A |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,739,179 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Or2w3b |
G |
A |
11: 58,623,271 (GRCm39) |
T240M |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Akap10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Akap10
|
APN |
11 |
61,805,897 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL00971:Akap10
|
APN |
11 |
61,795,622 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01510:Akap10
|
APN |
11 |
61,768,846 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02731:Akap10
|
APN |
11 |
61,784,302 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03289:Akap10
|
APN |
11 |
61,768,794 (GRCm39) |
splice site |
probably benign |
|
|
IGL03294:Akap10
|
APN |
11 |
61,768,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03403:Akap10
|
APN |
11 |
61,806,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
P4748:Akap10
|
UTSW |
11 |
61,763,846 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0924:Akap10
|
UTSW |
11 |
61,795,689 (GRCm39) |
splice site |
probably benign |
|
|
R1324:Akap10
|
UTSW |
11 |
61,805,847 (GRCm39) |
splice site |
probably null |
|
|
R2117:Akap10
|
UTSW |
11 |
61,781,129 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2402:Akap10
|
UTSW |
11 |
61,806,048 (GRCm39) |
missense |
probably benign |
|
|
R2567:Akap10
|
UTSW |
11 |
61,784,175 (GRCm39) |
intron |
probably benign |
|
|
R3745:Akap10
|
UTSW |
11 |
61,806,131 (GRCm39) |
missense |
probably benign |
|
|
R5124:Akap10
|
UTSW |
11 |
61,807,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5126:Akap10
|
UTSW |
11 |
61,807,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5180:Akap10
|
UTSW |
11 |
61,807,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Akap10
|
UTSW |
11 |
61,813,617 (GRCm39) |
missense |
probably benign |
|
|
R5324:Akap10
|
UTSW |
11 |
61,807,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Akap10
|
UTSW |
11 |
61,777,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7121:Akap10
|
UTSW |
11 |
61,777,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7763:Akap10
|
UTSW |
11 |
61,806,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Akap10
|
UTSW |
11 |
61,791,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Akap10
|
UTSW |
11 |
61,820,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Akap10
|
UTSW |
11 |
61,820,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9321:Akap10
|
UTSW |
11 |
61,791,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Akap10
|
UTSW |
11 |
61,787,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Akap10
|
UTSW |
11 |
61,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGATGCTGGAGTCTCATGTC -3'
(R):5'- GAGTGAAGCCTGTTGTGGAC -3'
Sequencing Primer
(F):5'- CTTTTAGATGGAGAGACAGGCTC -3'
(R):5'- GACAGCAGTCAGTTTAGAAGTTCTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation