Incidental Mutation 'R9347:Akap12'
| ID |
707866 |
| 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 # |
R9347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4303640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 150
(D150G)
|
| 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: D255G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: D255G
| 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 benign
Transcript: ENSMUST00000215696
AA Change: D150G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,483,479 (GRCm39) |
M1659K |
probably benign |
Het |
| Ace |
C |
A |
11: 105,864,958 (GRCm39) |
Q544K |
probably damaging |
Het |
| Agpat4 |
A |
G |
17: 12,429,168 (GRCm39) |
E140G |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 53,115,894 (GRCm39) |
Y999C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,607,076 (GRCm39) |
I1326V |
possibly damaging |
Het |
| Apold1 |
T |
A |
6: 134,960,999 (GRCm39) |
L151Q |
probably damaging |
Het |
| Bmal1 |
A |
G |
7: 112,898,487 (GRCm39) |
D305G |
possibly damaging |
Het |
| Brsk2 |
A |
G |
7: 141,552,133 (GRCm39) |
S564G |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,294,915 (GRCm39) |
V325A |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,464,654 (GRCm39) |
Y167C |
probably damaging |
Het |
| Cyp11a1 |
G |
T |
9: 57,928,141 (GRCm39) |
V324L |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,861,950 (GRCm39) |
T151A |
possibly damaging |
Het |
| Dhrs4 |
A |
G |
14: 55,727,306 (GRCm39) |
I252M |
possibly damaging |
Het |
| Dlg2 |
A |
G |
7: 91,360,900 (GRCm39) |
D6G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,927,333 (GRCm39) |
E1330K |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,137,391 (GRCm39) |
E520G |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,479,731 (GRCm39) |
V91A |
possibly damaging |
Het |
| Fam20c |
C |
A |
5: 138,743,676 (GRCm39) |
H237Q |
probably benign |
Het |
| Fam217a |
C |
T |
13: 35,094,662 (GRCm39) |
G366S |
probably damaging |
Het |
| Fancf |
T |
C |
7: 51,511,359 (GRCm39) |
E215G |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,980,664 (GRCm39) |
I301N |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,660,350 (GRCm39) |
|
probably null |
Het |
| Gen1 |
T |
C |
12: 11,311,068 (GRCm39) |
N55D |
probably damaging |
Het |
| Gm20604 |
A |
T |
12: 102,709,636 (GRCm39) |
C75S |
unknown |
Het |
| Gm3045 |
T |
A |
13: 56,578,160 (GRCm39) |
V199D |
unknown |
Het |
| Gm49368 |
A |
G |
7: 127,712,178 (GRCm39) |
T805A |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,809,921 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,313,753 (GRCm39) |
M1395V |
probably benign |
Het |
| Il17rc |
T |
G |
6: 113,457,780 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,840,347 (GRCm39) |
T318S |
probably benign |
Het |
| Kcnc1 |
A |
T |
7: 46,077,034 (GRCm39) |
N279Y |
probably damaging |
Het |
| Khdrbs2 |
T |
A |
1: 32,511,828 (GRCm39) |
H264Q |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,260,144 (GRCm39) |
V195A |
possibly damaging |
Het |
| Lhfpl2 |
A |
G |
13: 94,328,539 (GRCm39) |
E200G |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,393,548 (GRCm39) |
D300G |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,641,674 (GRCm39) |
T17A |
possibly damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,733,518 (GRCm39) |
I122N |
probably damaging |
Het |
| Mos |
A |
G |
4: 3,871,763 (GRCm39) |
S18P |
probably benign |
Het |
| Mterf3 |
C |
T |
13: 67,062,852 (GRCm39) |
V295I |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,571,511 (GRCm39) |
T336I |
unknown |
Het |
| Myo15a |
T |
C |
11: 60,374,555 (GRCm39) |
S136P |
|
Het |
| Nav3 |
T |
A |
10: 109,738,955 (GRCm39) |
I128F |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,170,594 (GRCm39) |
D928G |
probably damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,464 (GRCm39) |
I180V |
probably damaging |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,553 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,753,819 (GRCm39) |
V69E |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,995,259 (GRCm39) |
K311E |
probably benign |
Het |
| Or8u10 |
T |
C |
2: 85,915,911 (GRCm39) |
D70G |
possibly damaging |
Het |
| Parvb |
T |
C |
15: 84,155,523 (GRCm39) |
|
probably null |
Het |
| Patj |
A |
C |
4: 98,576,484 (GRCm39) |
E574A |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,181,877 (GRCm39) |
N465S |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,786,697 (GRCm39) |
E24V |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,046,379 (GRCm39) |
K950E |
possibly damaging |
Het |
| Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,167,914 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc25a35 |
G |
T |
11: 68,862,076 (GRCm39) |
V170L |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 73,934,153 (GRCm39) |
L673Q |
possibly damaging |
Het |
| Smim35 |
A |
G |
9: 45,154,271 (GRCm39) |
N44S |
possibly damaging |
Het |
| Tcp1 |
A |
G |
17: 13,136,687 (GRCm39) |
M23V |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,845,288 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,471,923 (GRCm39) |
E522K |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,341,867 (GRCm39) |
T194I |
possibly damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,718,674 (GRCm39) |
E463D |
probably benign |
Het |
| Wdr1 |
C |
A |
5: 38,697,355 (GRCm39) |
|
probably null |
Het |
| Zbtb38 |
A |
T |
9: 96,567,649 (GRCm39) |
M1145K |
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 |
|
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 |
|
|
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'- CCACCAAGAGCCCGGAGT -3'
(R):5'- ACAACCTGGCCTGGTCTGT -3'
Sequencing Primer
(F):5'- TGGAGACCGTCGGCGAATC -3'
(R):5'- GGCCTGGTCTGTGCCTTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation