Incidental Mutation 'IGL01350:Prkaa2'
| ID |
75334 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
104887071-104967087 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 104909109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030243]
|
| AlphaFold |
Q8BRK8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030243
|
| SMART Domains |
Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,278,876 (GRCm39) |
C422* |
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
| Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
| Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
| Cyb5rl |
T |
C |
4: 106,941,409 (GRCm39) |
V278A |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
| Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
| Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
| Msi1 |
A |
G |
5: 115,573,580 (GRCm39) |
K126R |
possibly damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
| Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
| Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
| Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,011 (GRCm39) |
V255A |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,757 (GRCm39) |
*84K |
probably null |
Het |
| Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,276,489 (GRCm39) |
T211A |
probably benign |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation