Incidental Mutation 'R5443:Akap12'
| ID |
427284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
043008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5443 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4305576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 795
(E795D)
|
| 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: E900D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: E900D
| 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: E795D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Meta Mutation Damage Score |
0.2409 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.9%
|
| Validation Efficiency |
99% (68/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
T |
C |
12: 84,484,745 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
G |
1: 58,273,151 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
G |
A |
15: 76,682,125 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,509,325 (GRCm39) |
E272G |
possibly damaging |
Het |
| C1qc |
G |
A |
4: 136,619,804 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
C |
A |
16: 8,482,203 (GRCm39) |
R26L |
probably benign |
Het |
| Cdh12 |
G |
T |
15: 21,237,935 (GRCm39) |
V57L |
probably benign |
Het |
| Cfap298 |
G |
T |
16: 90,724,099 (GRCm39) |
Q168K |
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,144,893 (GRCm39) |
Y23C |
probably benign |
Het |
| Crebrf |
G |
C |
17: 26,961,328 (GRCm39) |
V150L |
probably damaging |
Het |
| Ddx41 |
G |
T |
13: 55,683,104 (GRCm39) |
A201E |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,670,921 (GRCm39) |
K237E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,620 (GRCm39) |
S5199P |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,670,862 (GRCm39) |
I129T |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,070,712 (GRCm39) |
E2329G |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,775,622 (GRCm39) |
T27P |
possibly damaging |
Het |
| Fah |
T |
A |
7: 84,241,604 (GRCm39) |
R316W |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,064,519 (GRCm39) |
L4825P |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,381,648 (GRCm39) |
V804A |
probably damaging |
Het |
| Gm1322 |
G |
A |
2: 67,015,012 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
A |
7: 39,058,289 (GRCm39) |
K443N |
probably benign |
Het |
| Gnai2 |
T |
C |
9: 107,497,386 (GRCm39) |
I3V |
probably damaging |
Het |
| Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
| Klf15 |
C |
A |
6: 90,444,342 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Ly6a2 |
A |
T |
15: 75,005,568 (GRCm39) |
|
noncoding transcript |
Het |
| Maco1 |
A |
T |
4: 134,560,619 (GRCm39) |
C121* |
probably null |
Het |
| Necab2 |
A |
T |
8: 120,195,032 (GRCm39) |
M295L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,339,348 (GRCm39) |
Y208N |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,256 (GRCm39) |
Y232* |
probably null |
Het |
| Oacyl |
A |
G |
18: 65,883,253 (GRCm39) |
R611G |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,074,129 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
A |
17: 38,585,905 (GRCm39) |
M81K |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,262 (GRCm39) |
G266C |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,583 (GRCm39) |
Y52H |
probably benign |
Het |
| Or8k25 |
A |
C |
2: 86,243,937 (GRCm39) |
I153R |
possibly damaging |
Het |
| Pate4 |
A |
C |
9: 35,519,170 (GRCm39) |
S66A |
possibly damaging |
Het |
| Pigl |
T |
A |
11: 62,349,309 (GRCm39) |
C8* |
probably null |
Het |
| Plg |
G |
A |
17: 12,601,070 (GRCm39) |
A51T |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppig |
A |
T |
2: 69,564,635 (GRCm39) |
D97V |
probably damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,846 (GRCm39) |
K517E |
possibly damaging |
Het |
| Prr16 |
A |
T |
18: 51,436,225 (GRCm39) |
S235C |
probably damaging |
Het |
| Psmd1 |
G |
A |
1: 86,017,905 (GRCm39) |
R572H |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,135 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
A |
T |
2: 151,924,043 (GRCm39) |
Y25F |
probably benign |
Het |
| Sema6d |
A |
T |
2: 124,498,756 (GRCm39) |
H222L |
probably damaging |
Het |
| Septin2 |
A |
G |
1: 93,425,174 (GRCm39) |
N110S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,113,607 (GRCm39) |
G340D |
possibly damaging |
Het |
| Smg5 |
T |
A |
3: 88,261,896 (GRCm39) |
L723H |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spo11 |
T |
C |
2: 172,831,152 (GRCm39) |
|
probably benign |
Het |
| Srarp |
T |
A |
4: 141,163,388 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,363,607 (GRCm39) |
Y109F |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,809,209 (GRCm39) |
M699K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,909,420 (GRCm39) |
F289S |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,645 (GRCm39) |
H371R |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,348,532 (GRCm39) |
I11N |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,108 (GRCm39) |
F677L |
probably benign |
Het |
| Zer1 |
C |
T |
2: 30,001,008 (GRCm39) |
G138S |
probably damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,227 (GRCm39) |
K439R |
possibly 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 |
|
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'- CTGAGTACGATGCGGTAGAG -3'
(R):5'- TTCGGTAAGTTCTTCAGCGC -3'
Sequencing Primer
(F):5'- TGAGTACGATGCGGTAGAGAGAGAG -3'
(R):5'- AGCGCCTCTGTGGTTTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation