Incidental Mutation 'R8494:Akap5'
| ID |
658200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap5
|
| Ensembl Gene |
ENSMUSG00000021057 |
| Gene Name |
A kinase anchor protein 5 |
| Synonyms |
LOC238276, 3526401B18Rik, AKAP150 |
| MMRRC Submission |
067936-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R8494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76371665-76380927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76376455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 629
(D629G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095610]
[ENSMUST00000154078]
[ENSMUST00000172992]
|
| AlphaFold |
D3YVF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095610
AA Change: D629G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: D629G
| 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 benign
Transcript: ENSMUST00000154078
AA Change: D622G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: D622G
| 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 benign
Transcript: ENSMUST00000172992
AA Change: D629G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: D629G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,327,821 (GRCm39) |
M1420L |
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,038,708 (GRCm39) |
H934L |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,240,221 (GRCm39) |
C661R |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,832,340 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
C |
1: 72,697,953 (GRCm39) |
I758V |
probably benign |
Het |
| Apc2 |
G |
T |
10: 80,150,313 (GRCm39) |
R1760L |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,115 (GRCm39) |
T83A |
probably benign |
Het |
| Canx |
T |
A |
11: 50,202,609 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 52,025,003 (GRCm39) |
I966K |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,144,788 (GRCm39) |
Q1444L |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,759,312 (GRCm39) |
P1781S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,345,977 (GRCm39) |
N2439T |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,673,271 (GRCm39) |
Y981N |
probably benign |
Het |
| Esrp2 |
C |
T |
8: 106,861,350 (GRCm39) |
V150M |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,982,252 (GRCm39) |
F235V |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,519,164 (GRCm39) |
Y125* |
probably null |
Het |
| Gm1110 |
T |
A |
9: 26,792,154 (GRCm39) |
D622V |
probably benign |
Het |
| Gpcpd1 |
A |
G |
2: 132,386,355 (GRCm39) |
V341A |
probably damaging |
Het |
| Gpx3 |
G |
A |
11: 54,793,846 (GRCm39) |
V19I |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,347,810 (GRCm39) |
I160M |
probably damaging |
Het |
| Igkv3-4 |
G |
T |
6: 70,649,147 (GRCm39) |
V49F |
probably damaging |
Het |
| Kcng1 |
A |
G |
2: 168,105,018 (GRCm39) |
V276A |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,145 (GRCm39) |
V364D |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,902,341 (GRCm39) |
I182V |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,501,856 (GRCm39) |
T243M |
possibly damaging |
Het |
| Micall1 |
T |
C |
15: 79,005,080 (GRCm39) |
L184P |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,133,593 (GRCm39) |
C217S |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,377,546 (GRCm39) |
D469G |
probably damaging |
Het |
| Mst1r |
T |
G |
9: 107,791,718 (GRCm39) |
W799G |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,362,291 (GRCm39) |
V950I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,871 (GRCm39) |
D1296G |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,880 (GRCm39) |
M298K |
probably null |
Het |
| Parg |
T |
A |
14: 31,930,978 (GRCm39) |
H199Q |
probably benign |
Het |
| Pcnx3 |
C |
A |
19: 5,725,404 (GRCm39) |
D1170Y |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,250,144 (GRCm39) |
V487E |
probably damaging |
Het |
| Selp |
T |
G |
1: 163,957,835 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
T |
C |
8: 106,981,982 (GRCm39) |
E626G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,265 (GRCm39) |
L188P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,241 (GRCm39) |
I543V |
possibly damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,779 (GRCm39) |
*245W |
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,383,506 (GRCm39) |
R1336G |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,422,594 (GRCm39) |
W185R |
probably damaging |
Het |
|
| Other mutations in Akap5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02194:Akap5
|
APN |
12 |
76,374,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGCAGAGGAAGCCACAG -3'
(R):5'- TGAAGTTCTCCCCTCGAAATC -3'
Sequencing Primer
(F):5'- CACAGTGGGTCAGGCAG -3'
(R):5'- CTTGCTCGTTTTCCATTGAAATTAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation