Incidental Mutation 'IGL02442:Prkaa1'
| ID |
293475 |
| 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 # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
5173343-5211380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5206369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 408
(H408Q)
|
| 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: H408Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: H408Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000150079
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228218
AA Change: H399Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 |
|---|
| Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,606,750 (GRCm39) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,266,316 (GRCm39) |
|
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 35,153,445 (GRCm39) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
| Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
| Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
| Sap25 |
T |
A |
5: 137,640,257 (GRCm39) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
| Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
| Sri |
T |
A |
5: 8,112,411 (GRCm39) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,646,080 (GRCm39) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
probably benign |
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 |
|
IGL02890:Prkaa1
|
APN |
15 |
5,206,567 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03146:Prkaa1
|
APN |
15 |
5,198,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation