Incidental Mutation 'IGL00857:Prkab2'
ID |
13158 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prkab2
|
Ensembl Gene |
ENSMUSG00000038205 |
Gene Name |
protein kinase, AMP-activated, beta 2 non-catalytic subunit |
Synonyms |
5730553K21Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.491)
|
Stock # |
IGL00857
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
97565527-97581128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97569659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 75
(A75V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045743]
[ENSMUST00000130924]
[ENSMUST00000143927]
|
AlphaFold |
Q6PAM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045743
AA Change: A75V
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000036410 Gene: ENSMUSG00000038205 AA Change: A75V
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
Pfam:AMPK1_CBM
|
76 |
160 |
1.1e-38 |
PFAM |
AMPKBI
|
181 |
271 |
6.31e-49 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130924
|
SMART Domains |
Protein: ENSMUSP00000116622 Gene: ENSMUSG00000038205
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132719
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143927
AA Change: A75V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000115749 Gene: ENSMUSG00000038205 AA Change: A75V
Domain | Start | End | E-Value | Type |
PDB:4CFF|D
|
1 |
176 |
1e-68 |
PDB |
Blast:AMPKBI
|
91 |
176 |
6e-50 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152731
|
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 regulatory 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. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acr |
A |
G |
15: 89,454,205 (GRCm39) |
T181A |
probably benign |
Het |
Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
Cacna1d |
A |
T |
14: 30,072,638 (GRCm39) |
N112K |
possibly damaging |
Het |
Cd164 |
A |
G |
10: 41,404,691 (GRCm39) |
T150A |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,470,120 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
A |
6: 47,026,358 (GRCm39) |
N61K |
probably benign |
Het |
Cstdc1 |
A |
G |
2: 148,624,170 (GRCm39) |
D48G |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,708,631 (GRCm39) |
I393V |
probably benign |
Het |
Dcaf11 |
A |
T |
14: 55,798,742 (GRCm39) |
|
probably benign |
Het |
Defb7 |
G |
A |
8: 19,547,594 (GRCm39) |
R33Q |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,283,604 (GRCm39) |
Y2743C |
probably benign |
Het |
Enpp2 |
A |
G |
15: 54,739,046 (GRCm39) |
|
probably null |
Het |
Fam135b |
T |
A |
15: 71,335,465 (GRCm39) |
E576D |
probably benign |
Het |
Gfpt1 |
T |
A |
6: 87,033,145 (GRCm39) |
N123K |
probably damaging |
Het |
Hnmt |
T |
C |
2: 23,893,795 (GRCm39) |
D233G |
probably benign |
Het |
Hsd3b2 |
T |
A |
3: 98,618,859 (GRCm39) |
E362V |
possibly damaging |
Het |
Hsdl2 |
T |
A |
4: 59,617,735 (GRCm39) |
N487K |
probably benign |
Het |
Hspa14 |
T |
C |
2: 3,503,796 (GRCm39) |
Y83C |
probably damaging |
Het |
Itm2b |
T |
C |
14: 73,602,056 (GRCm39) |
N214S |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Myocd |
A |
T |
11: 65,069,662 (GRCm39) |
V726D |
possibly damaging |
Het |
Ncapg |
T |
A |
5: 45,833,927 (GRCm39) |
|
probably null |
Het |
Nrdc |
A |
T |
4: 108,911,199 (GRCm39) |
I774F |
probably damaging |
Het |
Pot1a |
T |
C |
6: 25,744,627 (GRCm39) |
I626V |
probably benign |
Het |
Sdr9c7 |
A |
G |
10: 127,734,728 (GRCm39) |
Q72R |
probably benign |
Het |
Slc16a7 |
A |
C |
10: 125,066,803 (GRCm39) |
Y279D |
probably benign |
Het |
Slc8a1 |
T |
A |
17: 81,955,308 (GRCm39) |
T577S |
probably benign |
Het |
Slitrk3 |
G |
A |
3: 72,957,174 (GRCm39) |
L533F |
probably damaging |
Het |
Tent5a |
C |
A |
9: 85,206,806 (GRCm39) |
V331L |
possibly damaging |
Het |
Tmeff1 |
T |
C |
4: 48,610,435 (GRCm39) |
V102A |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,583,099 (GRCm39) |
T22598I |
probably damaging |
Het |
Ube4a |
C |
A |
9: 44,843,684 (GRCm39) |
G977W |
probably damaging |
Het |
|
Other mutations in Prkab2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
dire
|
UTSW |
3 |
97,566,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R0255:Prkab2
|
UTSW |
3 |
97,574,728 (GRCm39) |
nonsense |
probably null |
|
R0377:Prkab2
|
UTSW |
3 |
97,569,633 (GRCm39) |
missense |
probably benign |
|
R1500:Prkab2
|
UTSW |
3 |
97,571,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Prkab2
|
UTSW |
3 |
97,573,943 (GRCm39) |
missense |
probably benign |
0.00 |
R2114:Prkab2
|
UTSW |
3 |
97,574,711 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2437:Prkab2
|
UTSW |
3 |
97,574,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Prkab2
|
UTSW |
3 |
97,569,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5085:Prkab2
|
UTSW |
3 |
97,580,308 (GRCm39) |
unclassified |
probably benign |
|
R5566:Prkab2
|
UTSW |
3 |
97,569,609 (GRCm39) |
missense |
probably benign |
0.21 |
R6186:Prkab2
|
UTSW |
3 |
97,571,307 (GRCm39) |
splice site |
probably null |
|
R7477:Prkab2
|
UTSW |
3 |
97,566,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R8291:Prkab2
|
UTSW |
3 |
97,569,605 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8313:Prkab2
|
UTSW |
3 |
97,570,911 (GRCm39) |
missense |
probably benign |
0.23 |
R8442:Prkab2
|
UTSW |
3 |
97,566,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Prkab2
|
UTSW |
3 |
97,573,943 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Prkab2
|
UTSW |
3 |
97,569,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |