Incidental Mutation 'R2995:Prkaa2'
ID |
257167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkaa2
|
Ensembl Gene |
ENSMUSG00000028518 |
Gene Name |
protein kinase, AMP-activated, alpha 2 catalytic subunit |
Synonyms |
AMPKalpha2, 2310008I11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2995 (G1)
|
Quality Score |
143 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
104887071-104967087 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104909204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 80
(Y80C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030243]
|
AlphaFold |
Q8BRK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030243
AA Change: Y80C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030243 Gene: ENSMUSG00000028518 AA Change: Y80C
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
268 |
1.47e-103 |
SMART |
Pfam:AdenylateSensor
|
401 |
501 |
6.4e-18 |
PFAM |
low complexity region
|
511 |
527 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
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 is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice are hyperglycemic, hypoinsulinemic, and show glucose intolerance and insulin resistance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
G |
7: 43,148,792 (GRCm39) |
C43R |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Clpb |
T |
A |
7: 101,428,531 (GRCm39) |
H430Q |
probably damaging |
Het |
Eloa |
G |
T |
4: 135,738,217 (GRCm39) |
H248N |
probably benign |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Lhfpl2 |
A |
G |
13: 94,310,966 (GRCm39) |
T79A |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,529,306 (GRCm39) |
C541* |
probably null |
Het |
Slc4a4 |
A |
T |
5: 89,082,673 (GRCm39) |
E22V |
probably damaging |
Het |
Stard5 |
T |
C |
7: 83,281,951 (GRCm39) |
V36A |
probably damaging |
Het |
Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,355,057 (GRCm39) |
|
probably benign |
Het |
Trpc6 |
G |
T |
9: 8,544,467 (GRCm39) |
G12V |
probably benign |
Het |
|
Other mutations in Prkaa2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Prkaa2
|
APN |
4 |
104,932,659 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01350:Prkaa2
|
APN |
4 |
104,909,109 (GRCm39) |
splice site |
probably null |
|
IGL01474:Prkaa2
|
APN |
4 |
104,906,529 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02149:Prkaa2
|
APN |
4 |
104,897,285 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02187:Prkaa2
|
APN |
4 |
104,904,363 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03185:Prkaa2
|
APN |
4 |
104,896,918 (GRCm39) |
critical splice donor site |
probably null |
|
R0004:Prkaa2
|
UTSW |
4 |
104,904,288 (GRCm39) |
missense |
probably null |
1.00 |
R1536:Prkaa2
|
UTSW |
4 |
104,932,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Prkaa2
|
UTSW |
4 |
104,908,420 (GRCm39) |
missense |
probably damaging |
0.96 |
R1596:Prkaa2
|
UTSW |
4 |
104,893,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Prkaa2
|
UTSW |
4 |
104,893,950 (GRCm39) |
nonsense |
probably null |
|
R2356:Prkaa2
|
UTSW |
4 |
104,896,918 (GRCm39) |
critical splice donor site |
probably null |
|
R4037:Prkaa2
|
UTSW |
4 |
104,908,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R4038:Prkaa2
|
UTSW |
4 |
104,908,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Prkaa2
|
UTSW |
4 |
104,908,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R4257:Prkaa2
|
UTSW |
4 |
104,897,153 (GRCm39) |
missense |
probably benign |
0.00 |
R4810:Prkaa2
|
UTSW |
4 |
104,897,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Prkaa2
|
UTSW |
4 |
104,897,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Prkaa2
|
UTSW |
4 |
104,893,291 (GRCm39) |
makesense |
probably null |
|
R6812:Prkaa2
|
UTSW |
4 |
104,904,349 (GRCm39) |
missense |
probably benign |
|
R7417:Prkaa2
|
UTSW |
4 |
104,932,740 (GRCm39) |
missense |
probably benign |
0.05 |
R8156:Prkaa2
|
UTSW |
4 |
104,909,172 (GRCm39) |
missense |
probably benign |
0.44 |
R8326:Prkaa2
|
UTSW |
4 |
104,893,495 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9051:Prkaa2
|
UTSW |
4 |
104,906,600 (GRCm39) |
nonsense |
probably null |
|
R9422:Prkaa2
|
UTSW |
4 |
104,909,195 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTGGAAATATGTTTGTGG -3'
(R):5'- ATCTGAAGGGGAGTCTATAAGCC -3'
Sequencing Primer
(F):5'- AAATATGTTTGTGGTTAGTTCCTTCC -3'
(R):5'- GTTATTTGTAGGCACACCAT -3'
|
Posted On |
2015-01-11 |