Incidental Mutation 'R2032:Akap12'
| ID |
221373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
040039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R2032 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4306673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 1161
(A1161D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
| AlphaFold |
Q9WTQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045730
AA Change: A1266D
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: A1266D
| 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 |
possibly damaging
Transcript: ENSMUST00000215696
AA Change: A1161D
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,585,056 (GRCm39) |
|
probably benign |
Het |
| Abca7 |
C |
T |
10: 79,844,071 (GRCm39) |
T1359M |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,246,400 (GRCm38) |
S464P |
probably benign |
Het |
| Adgrf1 |
C |
T |
17: 43,622,166 (GRCm39) |
T801I |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,616 (GRCm39) |
V635D |
possibly damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,762,168 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,203,373 (GRCm39) |
V28A |
probably benign |
Het |
| Atxn3 |
A |
T |
12: 101,908,453 (GRCm39) |
L133* |
probably null |
Het |
| Bmp2 |
T |
C |
2: 133,403,216 (GRCm39) |
S256P |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,978 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,348,984 (GRCm39) |
Y177N |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,900 (GRCm39) |
C66F |
possibly damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,844,781 (GRCm39) |
G674E |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,682,898 (GRCm39) |
V931M |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,993 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,839,069 (GRCm39) |
T450A |
probably benign |
Het |
| Col23a1 |
G |
A |
11: 51,450,835 (GRCm39) |
G215D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd6a |
T |
C |
14: 26,325,904 (GRCm39) |
M5T |
probably benign |
Het |
| Dnajc6 |
T |
G |
4: 101,471,435 (GRCm39) |
I284S |
probably benign |
Het |
| Dolpp1 |
C |
T |
2: 30,282,453 (GRCm39) |
A2V |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,936,480 (GRCm39) |
T711I |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,260,622 (GRCm39) |
D1065G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,799,460 (GRCm39) |
A293S |
probably benign |
Het |
| Fap |
A |
G |
2: 62,372,581 (GRCm39) |
V266A |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,131 (GRCm39) |
Y71F |
probably damaging |
Het |
| Gm3443 |
G |
T |
19: 21,533,164 (GRCm39) |
G43C |
probably damaging |
Het |
| Gpr146 |
T |
C |
5: 139,364,902 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
A |
T |
7: 16,785,104 (GRCm39) |
L172H |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,457 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
G |
A |
7: 23,120,937 (GRCm39) |
R717Q |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,817,283 (GRCm39) |
V36A |
possibly damaging |
Het |
| Or10v5 |
C |
T |
19: 11,805,664 (GRCm39) |
C242Y |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,083 (GRCm39) |
I179N |
probably benign |
Het |
| Or7a41 |
T |
A |
10: 78,871,163 (GRCm39) |
F178I |
possibly damaging |
Het |
| Parp4 |
T |
A |
14: 56,866,553 (GRCm39) |
I1039K |
possibly damaging |
Het |
| Pate12 |
T |
C |
9: 36,344,195 (GRCm39) |
|
probably null |
Het |
| Pold2 |
A |
T |
11: 5,826,757 (GRCm39) |
I59N |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,264,304 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,716,088 (GRCm39) |
|
probably benign |
Het |
| Recql |
C |
T |
6: 142,313,009 (GRCm39) |
G403R |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,355,928 (GRCm39) |
D198E |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,947 (GRCm39) |
Y93N |
probably damaging |
Het |
| Slc27a3 |
C |
T |
3: 90,294,704 (GRCm39) |
R389H |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,897,035 (GRCm39) |
M417K |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,783,746 (GRCm39) |
K339E |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,265 (GRCm39) |
H163Q |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,074,180 (GRCm39) |
G253R |
probably null |
Het |
| Trpv1 |
A |
G |
11: 73,129,211 (GRCm39) |
T43A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,131 (GRCm39) |
I510T |
probably damaging |
Het |
| Vmn1r224 |
C |
A |
17: 20,639,658 (GRCm39) |
D78E |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,210 (GRCm39) |
I274L |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,868,946 (GRCm39) |
V361I |
probably benign |
Het |
| Zpbp2 |
A |
T |
11: 98,445,534 (GRCm39) |
K165N |
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 |
|
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'- GGAAGGGATGTTCTAGAACCC -3'
(R):5'- ATGTCAGCTGTCAGGACTGG -3'
Sequencing Primer
(F):5'- GGGATGTTCTAGAACCCACACAAG -3'
(R):5'- CAGCTGTCAGGACTGGCTTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation