Incidental Mutation 'R1725:Akap12'
| ID |
198081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
039757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1725 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4303942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 251
(V251M)
|
| 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: V356M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: V356M
| 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: V251M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
T |
16: 88,424,163 (GRCm39) |
F109L |
probably benign |
Het |
| Aacs |
T |
C |
5: 125,559,999 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
C |
A |
7: 45,641,781 (GRCm39) |
D866Y |
possibly damaging |
Het |
| Acox3 |
T |
C |
5: 35,749,516 (GRCm39) |
Y214H |
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,398,764 (GRCm39) |
T404A |
possibly damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,865,381 (GRCm39) |
E154V |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,062,513 (GRCm39) |
M242K |
possibly damaging |
Het |
| Angptl7 |
T |
G |
4: 148,584,469 (GRCm39) |
Y93S |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,680 (GRCm39) |
|
probably benign |
Het |
| Arv1 |
T |
C |
8: 125,455,191 (GRCm39) |
F135L |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,026,361 (GRCm39) |
T1116I |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,493,541 (GRCm39) |
E311G |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,412,676 (GRCm39) |
T196A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,030 (GRCm39) |
S527T |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,460,203 (GRCm39) |
N3529K |
probably damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,099,892 (GRCm39) |
V116A |
probably damaging |
Het |
| Dhx36 |
T |
G |
3: 62,414,360 (GRCm39) |
M1L |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,203,759 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
G |
A |
4: 136,387,089 (GRCm39) |
Q714* |
probably null |
Het |
| Eprs1 |
T |
A |
1: 185,139,189 (GRCm39) |
L858Q |
probably damaging |
Het |
| Espl1 |
G |
T |
15: 102,221,656 (GRCm39) |
V982L |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,566,605 (GRCm39) |
T219A |
probably benign |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Fbxl18 |
C |
T |
5: 142,872,458 (GRCm39) |
R259H |
probably damaging |
Het |
| Gcc2 |
G |
A |
10: 58,139,937 (GRCm39) |
R1629H |
possibly damaging |
Het |
| Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
A |
T |
15: 101,600,992 (GRCm39) |
M268K |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,380,937 (GRCm39) |
S85T |
probably benign |
Het |
| Loxl3 |
G |
A |
6: 83,012,574 (GRCm39) |
V38I |
probably benign |
Het |
| Mill2 |
A |
G |
7: 18,573,993 (GRCm39) |
D26G |
probably benign |
Het |
| Muc15 |
T |
C |
2: 110,561,591 (GRCm39) |
L9S |
probably damaging |
Het |
| Nat8f4 |
G |
A |
6: 85,878,080 (GRCm39) |
R148* |
probably null |
Het |
| Nav3 |
A |
T |
10: 109,659,451 (GRCm39) |
V722E |
probably damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,373,519 (GRCm39) |
G10W |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,784,908 (GRCm39) |
P182L |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,265 (GRCm39) |
F208I |
probably benign |
Het |
| Or2t1 |
T |
G |
14: 14,328,977 (GRCm38) |
Y289D |
probably damaging |
Het |
| Or5b120 |
T |
C |
19: 13,479,883 (GRCm39) |
Y59H |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,241 (GRCm39) |
C313S |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,413,473 (GRCm39) |
L384P |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,743,796 (GRCm39) |
I487T |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,443,656 (GRCm39) |
D334E |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,936 (GRCm39) |
I189N |
possibly damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Rae1 |
A |
G |
2: 172,848,754 (GRCm39) |
I123M |
possibly damaging |
Het |
| Sh3glb2 |
C |
A |
2: 30,240,679 (GRCm39) |
E129* |
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,219 (GRCm39) |
S856P |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,877,672 (GRCm39) |
M69K |
probably benign |
Het |
| Slc30a8 |
A |
T |
15: 52,197,000 (GRCm39) |
I304F |
possibly damaging |
Het |
| Snx1 |
A |
G |
9: 66,005,611 (GRCm39) |
|
probably null |
Het |
| Spmip5 |
T |
G |
19: 58,781,194 (GRCm39) |
K10T |
probably benign |
Het |
| Stx18 |
G |
A |
5: 38,292,599 (GRCm39) |
V234M |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,923,281 (GRCm39) |
T615A |
probably damaging |
Het |
| Sult3a2 |
T |
A |
10: 33,655,705 (GRCm39) |
K91N |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,650,256 (GRCm39) |
S22P |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,253,940 (GRCm39) |
V362A |
probably damaging |
Het |
| Trim16 |
A |
C |
11: 62,711,331 (GRCm39) |
M1L |
possibly damaging |
Het |
| Trp53bp1 |
C |
T |
2: 121,082,481 (GRCm39) |
V10I |
possibly damaging |
Het |
| Ttc12 |
T |
G |
9: 49,369,415 (GRCm39) |
D235A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,692,727 (GRCm39) |
R452G |
possibly damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,730 (GRCm39) |
H387Q |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,360,733 (GRCm39) |
L20* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,539,263 (GRCm39) |
D1918G |
probably damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,490,072 (GRCm39) |
S46P |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,397 (GRCm39) |
W262R |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,869,830 (GRCm39) |
S1917T |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,528,120 (GRCm39) |
N158D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,623,245 (GRCm39) |
V1781I |
probably benign |
Het |
| Wrap73 |
T |
C |
4: 154,233,209 (GRCm39) |
Y128H |
possibly damaging |
Het |
| Zfp472 |
A |
G |
17: 33,196,311 (GRCm39) |
K129E |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,504,784 (GRCm39) |
L611Q |
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 |
|
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 |
|
R6828:Akap12
|
UTSW |
10 |
4,304,606 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- AATTCTTCACTCACGGCTGGGC -3'
(R):5'- AGGGGACTTCCCTGTACCTTGATTC -3'
Sequencing Primer
(F):5'- GCTGGCGCAAGAAGACC -3'
(R):5'- CAGAGACGCATACTTCTTTGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation