Incidental Mutation 'R6828:Akap12'
ID |
534264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap12
|
Ensembl Gene |
ENSMUSG00000038587 |
Gene Name |
A kinase anchor protein 12 |
Synonyms |
Tsga12, Srcs5, SSeCKS |
MMRRC Submission |
045020-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R6828 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4304606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 472
(E472G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
AlphaFold |
Q9WTQ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045730
AA Change: E577G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035829 Gene: ENSMUSG00000038587 AA Change: E577G
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
48 |
N/A |
INTRINSIC |
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
low complexity region
|
151 |
171 |
N/A |
INTRINSIC |
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
internal_repeat_1
|
212 |
279 |
3.2e-5 |
PROSPERO |
coiled coil region
|
304 |
331 |
N/A |
INTRINSIC |
low complexity region
|
387 |
398 |
N/A |
INTRINSIC |
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
low complexity region
|
497 |
526 |
N/A |
INTRINSIC |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
low complexity region
|
571 |
582 |
N/A |
INTRINSIC |
Pfam:WSK
|
591 |
619 |
2e-15 |
PFAM |
low complexity region
|
626 |
637 |
N/A |
INTRINSIC |
low complexity region
|
673 |
684 |
N/A |
INTRINSIC |
low complexity region
|
700 |
711 |
N/A |
INTRINSIC |
Pfam:WSK
|
738 |
766 |
2.3e-15 |
PFAM |
Pfam:WSK
|
779 |
807 |
6.2e-11 |
PFAM |
low complexity region
|
951 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1065 |
N/A |
INTRINSIC |
low complexity region
|
1177 |
1187 |
N/A |
INTRINSIC |
internal_repeat_1
|
1197 |
1265 |
3.2e-5 |
PROSPERO |
low complexity region
|
1303 |
1312 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
1501 |
1518 |
4.2e-7 |
PFAM |
coiled coil region
|
1651 |
1676 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215696
AA Change: E472G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
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 is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,545,389 (GRCm39) |
M349K |
possibly damaging |
Het |
Ap2s1 |
T |
C |
7: 16,482,626 (GRCm39) |
Y94H |
probably damaging |
Het |
Apeh |
A |
G |
9: 107,964,237 (GRCm39) |
F530L |
probably damaging |
Het |
Aplnr |
G |
A |
2: 84,970,103 (GRCm39) |
|
probably benign |
Het |
Arid3b |
A |
G |
9: 57,717,446 (GRCm39) |
|
probably null |
Het |
Ash1l |
A |
C |
3: 88,983,420 (GRCm39) |
D2874A |
probably benign |
Het |
Aurka |
T |
A |
2: 172,199,172 (GRCm39) |
R277S |
probably damaging |
Het |
Calhm4 |
A |
G |
10: 33,919,953 (GRCm39) |
F105L |
possibly damaging |
Het |
Ccar1 |
C |
A |
10: 62,600,209 (GRCm39) |
W574L |
probably damaging |
Het |
Cd8b1 |
T |
C |
6: 71,311,100 (GRCm39) |
F207L |
probably benign |
Het |
Clec14a |
T |
C |
12: 58,315,290 (GRCm39) |
R111G |
probably damaging |
Het |
Clk3 |
G |
A |
9: 57,668,132 (GRCm39) |
T263I |
possibly damaging |
Het |
Col11a2 |
A |
G |
17: 34,272,607 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
T |
9: 20,709,748 (GRCm39) |
G604D |
unknown |
Het |
Cracdl |
T |
C |
1: 37,663,898 (GRCm39) |
T667A |
possibly damaging |
Het |
Crb2 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
2: 37,666,421 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
A |
T |
4: 120,405,335 (GRCm39) |
V369D |
probably damaging |
Het |
Dennd5b |
A |
G |
6: 148,895,244 (GRCm39) |
I1262T |
probably damaging |
Het |
Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
Fam170b |
A |
G |
14: 32,557,915 (GRCm39) |
D250G |
probably damaging |
Het |
Foxs1 |
G |
A |
2: 152,775,048 (GRCm39) |
Q2* |
probably null |
Het |
Frmpd1 |
T |
C |
4: 45,275,383 (GRCm39) |
V512A |
probably damaging |
Het |
Fry |
G |
A |
5: 150,389,911 (GRCm39) |
|
probably null |
Het |
Gria1 |
A |
G |
11: 57,180,288 (GRCm39) |
Y677C |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,029,979 (GRCm39) |
I343T |
probably benign |
Het |
Igkv1-132 |
T |
C |
6: 67,736,697 (GRCm39) |
V5A |
probably benign |
Het |
Ikzf5 |
A |
T |
7: 130,993,401 (GRCm39) |
C256S |
probably damaging |
Het |
Itk |
G |
A |
11: 46,232,045 (GRCm39) |
H297Y |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,017,756 (GRCm39) |
E879G |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,529,123 (GRCm39) |
V127A |
probably damaging |
Het |
Man2b1 |
C |
A |
8: 85,813,548 (GRCm39) |
P247T |
possibly damaging |
Het |
Meak7 |
G |
A |
8: 120,499,306 (GRCm39) |
T62I |
possibly damaging |
Het |
Mxd3 |
T |
C |
13: 55,473,967 (GRCm39) |
K122E |
probably benign |
Het |
Npr1 |
C |
A |
3: 90,372,120 (GRCm39) |
V231L |
probably benign |
Het |
Nsd2 |
C |
T |
5: 34,050,912 (GRCm39) |
A1263V |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,258,973 (GRCm39) |
D374G |
probably damaging |
Het |
Optc |
A |
T |
1: 133,825,605 (GRCm39) |
I307N |
probably damaging |
Het |
Or5p80 |
A |
C |
7: 108,229,500 (GRCm39) |
Q100H |
possibly damaging |
Het |
Or6c3b |
A |
T |
10: 129,527,863 (GRCm39) |
S16T |
probably damaging |
Het |
Pecr |
C |
A |
1: 72,306,616 (GRCm39) |
E222* |
probably null |
Het |
Pibf1 |
A |
G |
14: 99,423,987 (GRCm39) |
N520S |
probably benign |
Het |
Rhoj |
A |
G |
12: 75,355,653 (GRCm39) |
N19S |
probably benign |
Het |
Rock2 |
G |
A |
12: 16,992,960 (GRCm39) |
|
probably null |
Het |
Rpa1 |
G |
A |
11: 75,205,697 (GRCm39) |
T220I |
probably damaging |
Het |
Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
Sipa1l3 |
G |
A |
7: 29,038,457 (GRCm39) |
H397Y |
probably benign |
Het |
Snrk |
T |
C |
9: 121,966,632 (GRCm39) |
I185T |
probably damaging |
Het |
Srrt |
A |
T |
5: 137,295,230 (GRCm39) |
V300E |
probably damaging |
Het |
Taok2 |
A |
T |
7: 126,471,047 (GRCm39) |
|
probably null |
Het |
Tmem131 |
T |
C |
1: 36,843,724 (GRCm39) |
K1379R |
possibly damaging |
Het |
Usp15 |
T |
C |
10: 122,963,894 (GRCm39) |
I543V |
probably damaging |
Het |
Zfp553 |
A |
G |
7: 126,835,447 (GRCm39) |
E334G |
probably damaging |
Het |
Zim1 |
T |
C |
7: 6,680,688 (GRCm39) |
Y325C |
probably damaging |
Het |
|
Other mutations in Akap12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00712:Akap12
|
APN |
10 |
4,357,164 (GRCm38) |
missense |
probably benign |
0.09 |
IGL01306:Akap12
|
APN |
10 |
4,303,273 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01360:Akap12
|
APN |
10 |
4,307,537 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01455:Akap12
|
APN |
10 |
4,306,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01458:Akap12
|
APN |
10 |
4,304,060 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01465:Akap12
|
APN |
10 |
4,306,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02348:Akap12
|
APN |
10 |
4,304,722 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02425:Akap12
|
APN |
10 |
4,306,034 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02502:Akap12
|
APN |
10 |
4,303,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02736:Akap12
|
APN |
10 |
4,305,637 (GRCm39) |
missense |
probably benign |
|
IGL02969:Akap12
|
APN |
10 |
4,304,864 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03345:Akap12
|
APN |
10 |
4,306,697 (GRCm39) |
missense |
probably benign |
0.42 |
ANU23:Akap12
|
UTSW |
10 |
4,303,273 (GRCm39) |
missense |
probably benign |
0.04 |
FR4976:Akap12
|
UTSW |
10 |
4,303,837 (GRCm39) |
small insertion |
probably benign |
|
R0004:Akap12
|
UTSW |
10 |
4,303,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Akap12
|
UTSW |
10 |
4,303,218 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0207:Akap12
|
UTSW |
10 |
4,303,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Akap12
|
UTSW |
10 |
4,304,741 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0675:Akap12
|
UTSW |
10 |
4,303,315 (GRCm39) |
missense |
probably benign |
0.06 |
R1248:Akap12
|
UTSW |
10 |
4,303,847 (GRCm39) |
missense |
probably benign |
0.11 |
R1338:Akap12
|
UTSW |
10 |
4,263,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1448:Akap12
|
UTSW |
10 |
4,305,475 (GRCm39) |
missense |
probably benign |
0.22 |
R1458:Akap12
|
UTSW |
10 |
4,303,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Akap12
|
UTSW |
10 |
4,304,804 (GRCm39) |
missense |
probably benign |
0.02 |
R1585:Akap12
|
UTSW |
10 |
4,303,640 (GRCm39) |
missense |
probably benign |
0.11 |
R1725:Akap12
|
UTSW |
10 |
4,303,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Akap12
|
UTSW |
10 |
4,307,574 (GRCm39) |
missense |
probably benign |
0.04 |
R1914:Akap12
|
UTSW |
10 |
4,306,685 (GRCm39) |
missense |
probably benign |
0.01 |
R1978:Akap12
|
UTSW |
10 |
4,263,855 (GRCm39) |
missense |
probably benign |
0.06 |
R2032:Akap12
|
UTSW |
10 |
4,306,673 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2041:Akap12
|
UTSW |
10 |
4,306,489 (GRCm39) |
missense |
probably benign |
0.01 |
R3009:Akap12
|
UTSW |
10 |
4,307,891 (GRCm39) |
missense |
probably benign |
0.06 |
R3872:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
R3874:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
R3875:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
R3944:Akap12
|
UTSW |
10 |
4,307,347 (GRCm39) |
missense |
probably benign |
0.00 |
R4612:Akap12
|
UTSW |
10 |
4,304,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R4889:Akap12
|
UTSW |
10 |
4,306,535 (GRCm39) |
missense |
probably damaging |
0.97 |
R5043:Akap12
|
UTSW |
10 |
4,305,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R5176:Akap12
|
UTSW |
10 |
4,303,947 (GRCm39) |
missense |
probably benign |
0.19 |
R5278:Akap12
|
UTSW |
10 |
4,304,792 (GRCm39) |
missense |
probably benign |
0.02 |
R5320:Akap12
|
UTSW |
10 |
4,307,291 (GRCm39) |
missense |
probably benign |
0.00 |
R5443:Akap12
|
UTSW |
10 |
4,305,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R5533:Akap12
|
UTSW |
10 |
4,307,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Akap12
|
UTSW |
10 |
4,305,178 (GRCm39) |
missense |
probably benign |
0.05 |
R6142:Akap12
|
UTSW |
10 |
4,263,740 (GRCm39) |
splice site |
probably null |
|
R6190:Akap12
|
UTSW |
10 |
4,306,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6458:Akap12
|
UTSW |
10 |
4,305,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6562:Akap12
|
UTSW |
10 |
4,306,141 (GRCm39) |
nonsense |
probably null |
|
R6701:Akap12
|
UTSW |
10 |
4,305,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R6991:Akap12
|
UTSW |
10 |
4,307,122 (GRCm39) |
nonsense |
probably null |
|
R7023:Akap12
|
UTSW |
10 |
4,306,895 (GRCm39) |
missense |
probably benign |
0.05 |
R7102:Akap12
|
UTSW |
10 |
4,303,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Akap12
|
UTSW |
10 |
4,303,967 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Akap12
|
UTSW |
10 |
4,303,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Akap12
|
UTSW |
10 |
4,303,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Akap12
|
UTSW |
10 |
4,306,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R8447:Akap12
|
UTSW |
10 |
4,306,289 (GRCm39) |
missense |
probably benign |
0.32 |
R8502:Akap12
|
UTSW |
10 |
4,263,856 (GRCm39) |
missense |
probably benign |
0.22 |
R8910:Akap12
|
UTSW |
10 |
4,263,822 (GRCm39) |
missense |
probably benign |
|
R8946:Akap12
|
UTSW |
10 |
4,304,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Akap12
|
UTSW |
10 |
4,306,744 (GRCm39) |
missense |
probably benign |
0.32 |
R9237:Akap12
|
UTSW |
10 |
4,307,231 (GRCm39) |
missense |
probably benign |
|
R9347:Akap12
|
UTSW |
10 |
4,303,640 (GRCm39) |
missense |
probably benign |
0.11 |
R9428:Akap12
|
UTSW |
10 |
4,303,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R9734:Akap12
|
UTSW |
10 |
4,305,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCAGTTCGGGCTTAAAGAAG -3'
(R):5'- TCATCCTGCATTCCAGACGC -3'
Sequencing Primer
(F):5'- CTTAAAGAAGCTCTCCGGGAAG -3'
(R):5'- ATTCCAGACGCCGTGCTC -3'
|
Posted On |
2018-09-12 |