Incidental Mutation 'R9428:Akap12'
ID |
712744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap12
|
Ensembl Gene |
ENSMUSG00000038587 |
Gene Name |
A kinase anchor protein 12 |
Synonyms |
Tsga12, Srcs5, SSeCKS |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R9428 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4303409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 178
(V178D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
AlphaFold |
Q9WTQ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045730
AA Change: V178D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035829 Gene: ENSMUSG00000038587 AA Change: V178D
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: V73D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Agmo |
A |
G |
12: 37,455,330 (GRCm39) |
I281M |
probably benign |
Het |
Ahdc1 |
C |
T |
4: 132,791,773 (GRCm39) |
P1005S |
possibly damaging |
Het |
Arc |
A |
G |
15: 74,543,063 (GRCm39) |
S387P |
probably benign |
Het |
Arhgap11a |
C |
T |
2: 113,667,279 (GRCm39) |
V423I |
probably benign |
Het |
Arhgap44 |
A |
G |
11: 64,899,168 (GRCm39) |
S670P |
probably damaging |
Het |
C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
C4bp |
A |
T |
1: 130,581,094 (GRCm39) |
F138L |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,295,834 (GRCm39) |
C393* |
probably null |
Het |
Cblif |
A |
G |
19: 11,735,102 (GRCm39) |
T241A |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,815,549 (GRCm39) |
V1822E |
possibly damaging |
Het |
Chgb |
C |
G |
2: 132,635,154 (GRCm39) |
S365R |
probably damaging |
Het |
Cnih3 |
T |
C |
1: 181,180,857 (GRCm39) |
|
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,735,528 (GRCm39) |
D825E |
possibly damaging |
Het |
Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
Dmbt1 |
A |
T |
7: 130,668,208 (GRCm39) |
E488V |
unknown |
Het |
Espnl |
A |
G |
1: 91,273,595 (GRCm39) |
Y985C |
probably damaging |
Het |
Frmpd2 |
T |
C |
14: 33,272,010 (GRCm39) |
V1048A |
probably damaging |
Het |
Fxn |
A |
T |
19: 24,249,787 (GRCm39) |
L100Q |
probably damaging |
Het |
Gapvd1 |
T |
A |
2: 34,607,318 (GRCm39) |
D560V |
probably damaging |
Het |
Gm4924 |
T |
A |
10: 82,213,490 (GRCm39) |
H429Q |
unknown |
Het |
Gpr158 |
T |
C |
2: 21,787,972 (GRCm39) |
F538L |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,378,308 (GRCm39) |
M1278K |
possibly damaging |
Het |
Ivd |
T |
A |
2: 118,708,369 (GRCm39) |
V361E |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,821 (GRCm39) |
L30P |
probably damaging |
Het |
Lipo4 |
C |
T |
19: 33,495,074 (GRCm39) |
V35I |
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,155,076 (GRCm39) |
D1200G |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,080,049 (GRCm39) |
R31* |
probably null |
Het |
Mill2 |
A |
T |
7: 18,573,950 (GRCm39) |
R12* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,934,114 (GRCm39) |
|
probably null |
Het |
Mtfr2 |
T |
A |
10: 20,233,039 (GRCm39) |
S203T |
possibly damaging |
Het |
Muc5ac |
A |
C |
7: 141,362,559 (GRCm39) |
T1957P |
unknown |
Het |
Mxi1 |
C |
A |
19: 53,299,213 (GRCm39) |
P28Q |
probably benign |
Het |
Mycbpap |
T |
C |
11: 94,393,995 (GRCm39) |
D367G |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,605,176 (GRCm39) |
T966A |
probably benign |
Het |
Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
Ndst2 |
A |
T |
14: 20,775,470 (GRCm39) |
F673L |
possibly damaging |
Het |
Ndst3 |
T |
A |
3: 123,340,518 (GRCm39) |
I767F |
probably benign |
Het |
Nell1 |
A |
T |
7: 50,503,683 (GRCm39) |
D696V |
probably damaging |
Het |
Nol9 |
A |
T |
4: 152,124,109 (GRCm39) |
T100S |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,168,245 (GRCm39) |
S94P |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,858,121 (GRCm39) |
I31T |
probably damaging |
Het |
Oas2 |
T |
A |
5: 120,887,576 (GRCm39) |
D88V |
probably damaging |
Het |
Or8w1 |
T |
C |
2: 87,465,774 (GRCm39) |
I106V |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,022,991 (GRCm39) |
H189R |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,575,206 (GRCm39) |
S239P |
probably damaging |
Het |
Pheta1 |
C |
T |
5: 121,991,147 (GRCm39) |
P170S |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,067,721 (GRCm39) |
|
probably null |
Het |
Plekhg5 |
T |
C |
4: 152,192,780 (GRCm39) |
V582A |
probably benign |
Het |
Plekhh2 |
G |
T |
17: 84,873,841 (GRCm39) |
E375D |
probably benign |
Het |
Pramel55 |
G |
T |
5: 95,949,545 (GRCm39) |
R97S |
probably damaging |
Het |
Prp2rt |
A |
G |
13: 97,235,724 (GRCm39) |
S8P |
probably benign |
Het |
Psmd4 |
G |
A |
3: 94,940,767 (GRCm39) |
T332I |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,041,485 (GRCm39) |
T76S |
probably benign |
Het |
Rab44 |
A |
T |
17: 29,358,315 (GRCm39) |
I168L |
|
Het |
Ros1 |
T |
C |
10: 51,958,061 (GRCm39) |
T1872A |
probably benign |
Het |
Scgb1b24 |
A |
T |
7: 33,443,493 (GRCm39) |
K51* |
probably null |
Het |
Scube2 |
A |
T |
7: 109,428,345 (GRCm39) |
D509E |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,393,067 (GRCm39) |
S123R |
probably damaging |
Het |
Smc3 |
G |
C |
19: 53,617,150 (GRCm39) |
R521P |
possibly damaging |
Het |
Socs4 |
G |
A |
14: 47,528,034 (GRCm39) |
R323H |
probably damaging |
Het |
Socs5 |
T |
A |
17: 87,441,067 (GRCm39) |
D2E |
probably benign |
Het |
Sra1 |
A |
G |
18: 36,810,299 (GRCm39) |
V121A |
probably damaging |
Het |
Stimate |
T |
C |
14: 30,594,645 (GRCm39) |
S253P |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,601,548 (GRCm39) |
L143P |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,811,490 (GRCm39) |
F568Y |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,671,140 (GRCm39) |
E614G |
probably damaging |
Het |
Tuba4a |
G |
T |
1: 75,192,686 (GRCm39) |
H337Q |
|
Het |
Tubgcp6 |
G |
A |
15: 88,985,100 (GRCm39) |
H1663Y |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,175,316 (GRCm39) |
Y1138C |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,535 (GRCm39) |
N6K |
possibly damaging |
Het |
Vmn1r213 |
G |
A |
13: 23,195,944 (GRCm39) |
A176T |
|
Het |
Vmn1r215 |
A |
T |
13: 23,260,749 (GRCm39) |
H263L |
probably benign |
Het |
Vmn2r51 |
CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC |
CGGC |
7: 9,833,712 (GRCm39) |
|
probably benign |
Het |
Wdhd1 |
A |
C |
14: 47,489,427 (GRCm39) |
L702* |
probably null |
Het |
Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
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 |
4,303,220 (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 |
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 |
R9734:Akap12
|
UTSW |
10 |
4,305,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAGTTCCACAGTTGTTG -3'
(R):5'- AAGGGGAATTTCTGTGCTGCTC -3'
Sequencing Primer
(F):5'- CCAGTTCCACAGTTGTTGAAGATATC -3'
(R):5'- AATTTCTGTGCTGCTCTGTGC -3'
|
Posted On |
2022-05-16 |