Incidental Mutation 'R4038:Prkaa2'
ID |
313788 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkaa2
|
Ensembl Gene |
ENSMUSG00000028518 |
Gene Name |
protein kinase, AMP-activated, alpha 2 catalytic subunit |
Synonyms |
AMPKalpha2, 2310008I11Rik |
MMRRC Submission |
040965-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4038 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
104887071-104967087 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104908444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 144
(N144D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030243]
|
AlphaFold |
Q8BRK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030243
AA Change: N144D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030243 Gene: ENSMUSG00000028518 AA Change: N144D
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 |
|
Meta Mutation Damage Score |
0.9400 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
Validation Efficiency |
93% (39/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
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 |
|
R2995:Prkaa2
|
UTSW |
4 |
104,909,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4037: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'- AAAGGCATGTTGAGTGGATCTG -3'
(R):5'- ATCATTGCCAAGCAGCCAAG -3'
Sequencing Primer
(F):5'- GAGTGGATCTGTCTTCTAGAAACCTC -3'
(R):5'- CGAATACTATTTTGAGCTTTGGCAAG -3'
|
Posted On |
2015-04-30 |