Incidental Mutation 'R0004:Akap12'
ID |
32401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap12
|
Ensembl Gene |
ENSMUSG00000038587 |
Gene Name |
A kinase anchor protein 12 |
Synonyms |
Tsga12, Srcs5, SSeCKS |
MMRRC Submission |
038300-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R0004 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
10 |
Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4303220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 10
(D10V)
|
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: D115V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035829 Gene: ENSMUSG00000038587 AA Change: D115V
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: D10V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
Meta Mutation Damage Score |
0.2161 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (63/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
T |
C |
2: 120,982,966 (GRCm39) |
I86T |
probably damaging |
Het |
Aff3 |
T |
C |
1: 38,308,807 (GRCm39) |
D376G |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,752,380 (GRCm39) |
H164Q |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,063,294 (GRCm39) |
V101A |
probably damaging |
Het |
Atm |
A |
T |
9: 53,364,828 (GRCm39) |
|
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,309,566 (GRCm39) |
D387G |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,409,964 (GRCm39) |
Q261L |
probably damaging |
Het |
Cd180 |
T |
G |
13: 102,839,216 (GRCm39) |
V33G |
probably benign |
Het |
Cd207 |
G |
A |
6: 83,651,230 (GRCm39) |
Q242* |
probably null |
Het |
Cnp |
T |
C |
11: 100,467,633 (GRCm39) |
F192S |
probably damaging |
Het |
Colec10 |
G |
T |
15: 54,274,271 (GRCm39) |
R33L |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,819,390 (GRCm39) |
M16L |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,803,966 (GRCm39) |
M98L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,950,918 (GRCm39) |
I2902V |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,646,635 (GRCm39) |
|
probably benign |
Het |
Epha5 |
T |
C |
5: 84,479,701 (GRCm39) |
Y101C |
probably damaging |
Het |
Ephb2 |
T |
A |
4: 136,384,835 (GRCm39) |
M860L |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,530,381 (GRCm39) |
T77A |
probably damaging |
Het |
Fgfbp3 |
A |
G |
19: 36,896,082 (GRCm39) |
S179P |
possibly damaging |
Het |
Foxp2 |
A |
G |
6: 15,197,095 (GRCm39) |
T45A |
possibly damaging |
Het |
Gckr |
A |
T |
5: 31,454,933 (GRCm39) |
|
probably benign |
Het |
Glce |
T |
A |
9: 61,975,861 (GRCm39) |
Q213L |
probably damaging |
Het |
Gm1965 |
A |
C |
6: 89,123,469 (GRCm39) |
H84P |
unknown |
Het |
Hbegf |
A |
G |
18: 36,640,559 (GRCm39) |
V166A |
probably damaging |
Het |
Helb |
G |
T |
10: 119,944,886 (GRCm39) |
H217N |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,418,257 (GRCm39) |
L392P |
probably damaging |
Het |
Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
Klra3 |
A |
G |
6: 130,300,650 (GRCm39) |
S240P |
probably damaging |
Het |
Liph |
T |
A |
16: 21,802,944 (GRCm39) |
R42* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,377,694 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
T |
6: 38,566,169 (GRCm39) |
K52M |
probably damaging |
Het |
Mecom |
G |
A |
3: 30,034,060 (GRCm39) |
P215S |
probably damaging |
Het |
Myo1g |
T |
A |
11: 6,465,901 (GRCm39) |
T395S |
probably damaging |
Het |
Ndst4 |
T |
A |
3: 125,364,475 (GRCm39) |
M384K |
probably benign |
Het |
Ndufb2 |
C |
T |
6: 39,573,438 (GRCm39) |
T51I |
possibly damaging |
Het |
Nell1 |
C |
A |
7: 50,210,507 (GRCm39) |
|
probably benign |
Het |
Or51k1 |
A |
T |
7: 103,661,638 (GRCm39) |
N90K |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,683,936 (GRCm39) |
S434N |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,290 (GRCm39) |
S423R |
probably benign |
Het |
Pcdhb10 |
T |
A |
18: 37,545,012 (GRCm39) |
D29E |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,200,408 (GRCm39) |
T1053A |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,702,384 (GRCm39) |
H1184L |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,904,288 (GRCm39) |
R263Q |
probably null |
Het |
Prmt9 |
A |
G |
8: 78,282,411 (GRCm39) |
I103V |
possibly damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,135 (GRCm39) |
T678A |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,680,805 (GRCm39) |
Y3180C |
probably benign |
Het |
Scaf1 |
T |
C |
7: 44,657,094 (GRCm39) |
|
probably benign |
Het |
Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
Sec23b |
T |
C |
2: 144,406,482 (GRCm39) |
|
probably benign |
Het |
Sf1 |
C |
A |
19: 6,424,221 (GRCm39) |
P417Q |
probably damaging |
Het |
Slc4a3 |
A |
T |
1: 75,533,653 (GRCm39) |
|
probably benign |
Het |
Stk32a |
T |
C |
18: 43,438,121 (GRCm39) |
W207R |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,393,132 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
T |
9: 42,256,774 (GRCm39) |
V1634E |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 35,914,184 (GRCm39) |
F2450S |
probably damaging |
Het |
Tgfb1 |
T |
C |
7: 25,391,791 (GRCm39) |
|
probably benign |
Het |
Tpgs2 |
A |
G |
18: 25,291,295 (GRCm39) |
|
probably benign |
Het |
Washc5 |
A |
G |
15: 59,239,316 (GRCm39) |
M149T |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,807,588 (GRCm39) |
V290D |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,370,626 (GRCm39) |
T688A |
possibly damaging |
Het |
Zfp560 |
C |
T |
9: 20,259,263 (GRCm39) |
C533Y |
probably damaging |
Het |
Zfp791 |
G |
A |
8: 85,837,495 (GRCm39) |
A123V |
probably benign |
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 |
4,303,218 (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 |
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'- AGCCAAGCGTGTAGCGCCTTTG -3'
(R):5'- ATGCTGATTCGCCGACGGTCTC -3'
Sequencing Primer
(F):5'- CATGGTCCAATCTATGAAACATTTAC -3'
(R):5'- ATCCTTCTTGACAGTGAGTAGC -3'
|
Posted On |
2013-05-09 |