Incidental Mutation 'IGL02890:Prkaa1'
| ID |
363143 |
| 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 # |
IGL02890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
5173343-5211380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5206567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 439
(N439S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051186]
[ENSMUST00000228218]
|
| AlphaFold |
Q5EG47 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051186
AA Change: N439S
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: N439S
| 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 benign
Transcript: ENSMUST00000228218
AA Change: N430S
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
T |
8: 41,278,190 (GRCm39) |
I194L |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,631,855 (GRCm39) |
V171A |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,951,340 (GRCm39) |
D91E |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 62,356,815 (GRCm39) |
D751G |
probably damaging |
Het |
| D6Wsu163e |
G |
A |
6: 126,951,450 (GRCm39) |
G500D |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,405,698 (GRCm39) |
D2395E |
probably damaging |
Het |
| Entrep3 |
A |
T |
3: 89,094,089 (GRCm39) |
T223S |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,637,531 (GRCm39) |
|
probably null |
Het |
| Galnt14 |
A |
C |
17: 73,816,519 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
C |
11: 76,102,090 (GRCm39) |
S890R |
probably damaging |
Het |
| Glrp1 |
T |
A |
1: 88,437,510 (GRCm39) |
|
probably null |
Het |
| Grik1 |
A |
G |
16: 87,693,690 (GRCm39) |
|
probably benign |
Het |
| H2bc14 |
G |
T |
13: 21,906,356 (GRCm39) |
R30L |
probably benign |
Het |
| Hspa12a |
C |
T |
19: 58,809,431 (GRCm39) |
|
probably null |
Het |
| Hykk |
C |
T |
9: 54,827,995 (GRCm39) |
P78L |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,903 (GRCm39) |
G115R |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,206,185 (GRCm39) |
|
probably null |
Het |
| Mat2a |
A |
G |
6: 72,413,229 (GRCm39) |
L167P |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,173,456 (GRCm39) |
E532G |
probably damaging |
Het |
| Nrbp2 |
G |
T |
15: 75,961,306 (GRCm39) |
L272M |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,911,116 (GRCm39) |
D790G |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,728,368 (GRCm39) |
T18S |
probably benign |
Het |
| Or5k16 |
T |
C |
16: 58,736,737 (GRCm39) |
D89G |
probably benign |
Het |
| Or8g26 |
T |
C |
9: 39,095,564 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,347,052 (GRCm39) |
H949L |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,269,956 (GRCm39) |
Y547C |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,431,235 (GRCm39) |
V2392D |
probably damaging |
Het |
| Ppp1r3g |
A |
T |
13: 36,153,314 (GRCm39) |
T245S |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,529,463 (GRCm39) |
Y78H |
probably damaging |
Het |
| Ric8b |
A |
T |
10: 84,837,731 (GRCm39) |
M513L |
possibly damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,117,260 (GRCm39) |
S740P |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,454,478 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
G |
A |
7: 117,784,724 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,748,853 (GRCm39) |
M1I |
probably null |
Het |
| Tmc5 |
A |
T |
7: 118,244,653 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,038,850 (GRCm39) |
A1132V |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,726,498 (GRCm39) |
K699* |
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 |
|
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 |
2015-12-18 |
Incidental Mutation