Incidental Mutation 'R5533:Akap12'
| ID |
433758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap12
|
| Ensembl Gene |
ENSMUSG00000038587 |
| Gene Name |
A kinase anchor protein 12 |
| Synonyms |
Tsga12, Srcs5, SSeCKS |
| MMRRC Submission |
043091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R5533 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4307405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1405
(V1405D)
|
| 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: V1510D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: V1510D
| 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: V1405D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 88.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Akap7 |
C |
T |
10: 25,159,880 (GRCm39) |
D107N |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,269,952 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,026,113 (GRCm39) |
|
probably null |
Het |
| Ctsd |
T |
C |
7: 141,931,070 (GRCm39) |
Q274R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,453 (GRCm39) |
R1575Q |
probably damaging |
Het |
| Erich6b |
A |
T |
14: 75,896,274 (GRCm39) |
L53F |
possibly damaging |
Het |
| Exoc6 |
A |
C |
19: 37,582,218 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
A |
T |
9: 109,315,133 (GRCm39) |
V143E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,991,608 (GRCm39) |
F696S |
unknown |
Het |
| Foxa3 |
G |
T |
7: 18,748,940 (GRCm39) |
Y102* |
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,256,792 (GRCm39) |
M301T |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,197,119 (GRCm39) |
Q54* |
probably null |
Het |
| Glra1 |
T |
C |
11: 55,423,208 (GRCm39) |
E117G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,768,095 (GRCm39) |
D234V |
probably damaging |
Het |
| Golm2 |
AGATGGTGATGGTG |
AGATGGTG |
2: 121,756,178 (GRCm39) |
|
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,812,441 (GRCm39) |
I137T |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,165,161 (GRCm39) |
V816A |
possibly damaging |
Het |
| Kdm4c |
G |
A |
4: 74,233,886 (GRCm39) |
|
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,996 (GRCm39) |
|
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,219 (GRCm39) |
N378S |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,807,357 (GRCm39) |
L363P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,520,081 (GRCm39) |
Y745* |
probably null |
Het |
| Nav3 |
A |
C |
10: 109,719,539 (GRCm39) |
N141K |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,233,837 (GRCm39) |
N779S |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,398,079 (GRCm39) |
Y414* |
probably null |
Het |
| Nf1 |
T |
G |
11: 79,336,615 (GRCm39) |
C1065G |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,278,004 (GRCm39) |
V216A |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,907,379 (GRCm39) |
N354I |
possibly damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,726 (GRCm39) |
V436I |
probably benign |
Het |
| Or5m11b |
A |
G |
2: 85,805,797 (GRCm39) |
D70G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,065,469 (GRCm39) |
F313L |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,155,187 (GRCm39) |
M570K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,296 (GRCm39) |
S856G |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,794,855 (GRCm39) |
E368G |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,969 (GRCm39) |
V323M |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,552,504 (GRCm39) |
Y920C |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,264,200 (GRCm39) |
D229V |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,417 (GRCm39) |
K483R |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,735,155 (GRCm39) |
R351H |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,833,948 (GRCm39) |
T370I |
possibly damaging |
Het |
| Smpd5 |
T |
C |
15: 76,178,757 (GRCm39) |
S42P |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,173,025 (GRCm39) |
|
probably null |
Het |
| Sox10 |
G |
A |
15: 79,040,502 (GRCm39) |
S185L |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,817,163 (GRCm39) |
I290F |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,821,733 (GRCm39) |
Y227C |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,211,316 (GRCm39) |
|
probably null |
Het |
| Stk36 |
A |
G |
1: 74,665,750 (GRCm39) |
R698G |
possibly damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,393 (GRCm39) |
T167S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,656 (GRCm39) |
S865P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,038,227 (GRCm39) |
L1537P |
probably damaging |
Het |
| Vstm2a |
C |
A |
11: 16,213,125 (GRCm39) |
T170K |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,931,407 (GRCm39) |
F304I |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,796 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,440 (GRCm39) |
K103* |
probably null |
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 |
|
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'- AGTAACTCCTGCTCCTGAAAGC -3'
(R):5'- GAAACCGCAAGTCCTTCCTG -3'
Sequencing Primer
(F):5'- TGCTCCTGAAAGCATCCTAC -3'
(R):5'- ACGGCACTGAGTGTTCCATC -3'
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| Posted On |
2016-10-06 |
Incidental Mutation