Incidental Mutation 'IGL03146:Prkaa1'
| ID |
410910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkaa1
|
| Ensembl Gene |
ENSMUSG00000050697 |
| Gene Name |
protein kinase, AMP-activated, alpha 1 catalytic subunit |
| Synonyms |
C130083N04Rik, AMPKalpha1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
5173343-5211380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5198122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 146
(V146A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051186]
[ENSMUST00000228218]
|
| AlphaFold |
Q5EG47 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051186
AA Change: V146A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: V146A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
27 |
279 |
2.23e-103 |
SMART |
|
low complexity region
|
305 |
318 |
N/A |
INTRINSIC |
|
Pfam:AdenylateSensor
|
406 |
503 |
1.3e-15 |
PFAM |
|
low complexity region
|
516 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228218
AA Change: V137A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, splenomegaly, increased erythrocyte turnover, and elevated plasma erythropoietin levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,294,519 (GRCm39) |
D360G |
probably damaging |
Het |
| Adam6a |
A |
T |
12: 113,509,144 (GRCm39) |
T506S |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,832,863 (GRCm39) |
V224A |
probably damaging |
Het |
| Arhgef12 |
G |
T |
9: 42,885,866 (GRCm39) |
D1251E |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Ccdc85c |
G |
A |
12: 108,173,395 (GRCm39) |
R387* |
probably null |
Het |
| Cfap57 |
T |
A |
4: 118,456,216 (GRCm39) |
I493F |
probably damaging |
Het |
| Chst9 |
A |
G |
18: 15,586,035 (GRCm39) |
I176T |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,234,112 (GRCm39) |
V572L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,744,873 (GRCm39) |
N1374I |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,350,134 (GRCm39) |
M273K |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,061 (GRCm39) |
E414G |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,327,368 (GRCm39) |
F122L |
probably damaging |
Het |
| Fcho1 |
A |
G |
8: 72,170,074 (GRCm39) |
|
probably benign |
Het |
| Fermt3 |
T |
C |
19: 6,980,631 (GRCm39) |
E312G |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
G |
A |
5: 92,214,399 (GRCm39) |
R132C |
probably damaging |
Het |
| Inpp4b |
A |
T |
8: 82,470,410 (GRCm39) |
I35F |
possibly damaging |
Het |
| Izumo3 |
T |
G |
4: 92,033,276 (GRCm39) |
I107L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,660,681 (GRCm39) |
Q484K |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,828,955 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,874,163 (GRCm39) |
N1735S |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,402 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,488 (GRCm39) |
M187K |
possibly damaging |
Het |
| Oxct1 |
T |
C |
15: 4,130,630 (GRCm39) |
L374P |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,678,823 (GRCm39) |
Q382* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,821,714 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
C |
T |
10: 116,164,032 (GRCm39) |
A900V |
probably benign |
Het |
| Rgs6 |
A |
T |
12: 83,099,312 (GRCm39) |
D130V |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,793,457 (GRCm39) |
R1344L |
probably benign |
Het |
| Scgb1b12 |
C |
A |
7: 32,033,969 (GRCm39) |
D76E |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,311,585 (GRCm39) |
E633D |
probably benign |
Het |
| Slc1a7 |
T |
A |
4: 107,850,189 (GRCm39) |
I100N |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,859,678 (GRCm39) |
K64E |
possibly damaging |
Het |
| Spmip4 |
A |
T |
6: 50,550,853 (GRCm39) |
V532E |
probably damaging |
Het |
| Stil |
C |
A |
4: 114,881,612 (GRCm39) |
Q719K |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,070,562 (GRCm39) |
L265Q |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,095,246 (GRCm39) |
E169G |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,504,174 (GRCm39) |
L101P |
probably damaging |
Het |
| Trgv3 |
C |
A |
13: 19,427,337 (GRCm39) |
Y73* |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,330,846 (GRCm39) |
Q458* |
probably null |
Het |
|
| Other mutations in Prkaa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Prkaa1
|
APN |
15 |
5,203,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Prkaa1
|
APN |
15 |
5,198,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02442:Prkaa1
|
APN |
15 |
5,206,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Prkaa1
|
APN |
15 |
5,206,567 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03396:Prkaa1
|
APN |
15 |
5,206,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pressor
|
UTSW |
15 |
5,206,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Prkaa1
|
UTSW |
15 |
5,194,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Prkaa1
|
UTSW |
15 |
5,208,279 (GRCm39) |
missense |
probably benign |
|
|
R1466:Prkaa1
|
UTSW |
15 |
5,208,279 (GRCm39) |
missense |
probably benign |
|
|
R1804:Prkaa1
|
UTSW |
15 |
5,208,259 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1807:Prkaa1
|
UTSW |
15 |
5,173,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Prkaa1
|
UTSW |
15 |
5,206,289 (GRCm39) |
missense |
probably benign |
|
|
R4398:Prkaa1
|
UTSW |
15 |
5,206,642 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4579:Prkaa1
|
UTSW |
15 |
5,190,082 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4689:Prkaa1
|
UTSW |
15 |
5,208,177 (GRCm39) |
missense |
probably benign |
|
|
R4832:Prkaa1
|
UTSW |
15 |
5,190,101 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4874:Prkaa1
|
UTSW |
15 |
5,203,838 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4876:Prkaa1
|
UTSW |
15 |
5,203,886 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5074:Prkaa1
|
UTSW |
15 |
5,206,392 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5260:Prkaa1
|
UTSW |
15 |
5,190,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5563:Prkaa1
|
UTSW |
15 |
5,199,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Prkaa1
|
UTSW |
15 |
5,203,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6363:Prkaa1
|
UTSW |
15 |
5,206,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Prkaa1
|
UTSW |
15 |
5,173,432 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7090:Prkaa1
|
UTSW |
15 |
5,206,611 (GRCm39) |
missense |
probably benign |
|
|
R7921:Prkaa1
|
UTSW |
15 |
5,206,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7989:Prkaa1
|
UTSW |
15 |
5,206,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Prkaa1
|
UTSW |
15 |
5,206,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8314:Prkaa1
|
UTSW |
15 |
5,208,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9183:Prkaa1
|
UTSW |
15 |
5,205,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation