Incidental Mutation 'IGL02194:Akap5'
ID |
284011 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Akap5
|
Ensembl Gene |
ENSMUSG00000021057 |
Gene Name |
A kinase anchor protein 5 |
Synonyms |
LOC238276, 3526401B18Rik, AKAP150 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
IGL02194
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
76371665-76380927 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76374807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 80
(P80S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095610]
[ENSMUST00000154078]
[ENSMUST00000172992]
|
AlphaFold |
D3YVF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095610
AA Change: P80S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093270 Gene: ENSMUSG00000021057 AA Change: P80S
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
Pfam:WSK
|
78 |
108 |
4.7e-13 |
PFAM |
SCOP:d1k28a2
|
386 |
573 |
6e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154078
AA Change: P73S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114495 Gene: ENSMUSG00000021057 AA Change: P73S
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
Pfam:WSK
|
71 |
101 |
3.3e-13 |
PFAM |
SCOP:d1k28a2
|
379 |
566 |
8e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172992
AA Change: P80S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134127 Gene: ENSMUSG00000021057 AA Change: P80S
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
Pfam:WSK
|
79 |
107 |
8.7e-15 |
PFAM |
SCOP:d1k28a2
|
386 |
573 |
6e-21 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced long term potentiation, improved glucose handling and heightened insulin sensitivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
Other mutations in Akap5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02309:Akap5
|
APN |
12 |
76,375,629 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02801:Akap5
|
APN |
12 |
76,375,769 (GRCm39) |
missense |
probably benign |
0.25 |
IGL03136:Akap5
|
APN |
12 |
76,376,649 (GRCm39) |
nonsense |
probably null |
|
PIT4802001:Akap5
|
UTSW |
12 |
76,376,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1517:Akap5
|
UTSW |
12 |
76,376,036 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1694:Akap5
|
UTSW |
12 |
76,376,698 (GRCm39) |
missense |
probably damaging |
0.99 |
R2012:Akap5
|
UTSW |
12 |
76,376,122 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4507:Akap5
|
UTSW |
12 |
76,374,681 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4755:Akap5
|
UTSW |
12 |
76,374,581 (GRCm39) |
nonsense |
probably null |
|
R4893:Akap5
|
UTSW |
12 |
76,376,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R4905:Akap5
|
UTSW |
12 |
76,375,207 (GRCm39) |
missense |
probably damaging |
0.96 |
R5482:Akap5
|
UTSW |
12 |
76,375,600 (GRCm39) |
missense |
probably benign |
0.26 |
R5886:Akap5
|
UTSW |
12 |
76,374,619 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7151:Akap5
|
UTSW |
12 |
76,375,023 (GRCm39) |
missense |
probably benign |
0.08 |
R7413:Akap5
|
UTSW |
12 |
76,375,678 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7514:Akap5
|
UTSW |
12 |
76,375,303 (GRCm39) |
missense |
probably benign |
0.00 |
R8494:Akap5
|
UTSW |
12 |
76,376,455 (GRCm39) |
missense |
probably benign |
|
R9117:Akap5
|
UTSW |
12 |
76,374,592 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9187:Akap5
|
UTSW |
12 |
76,376,745 (GRCm39) |
nonsense |
probably null |
|
R9473:Akap5
|
UTSW |
12 |
76,376,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R9493:Akap5
|
UTSW |
12 |
76,375,041 (GRCm39) |
missense |
probably damaging |
0.99 |
X0067:Akap5
|
UTSW |
12 |
76,374,972 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2015-04-16 |