Incidental Mutation 'R8291:Prkab2'
| ID |
638689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkab2
|
| Ensembl Gene |
ENSMUSG00000038205 |
| Gene Name |
protein kinase, AMP-activated, beta 2 non-catalytic subunit |
| Synonyms |
5730553K21Rik |
| MMRRC Submission |
067713-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R8291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97565527-97581128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97569605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 57
(E57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045743]
[ENSMUST00000130924]
[ENSMUST00000143927]
|
| AlphaFold |
Q6PAM0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045743
AA Change: E57G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036410
Gene: ENSMUSG00000038205
AA Change: E57G
| 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 |
probably benign
Transcript: ENSMUST00000143927
AA Change: E57G
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115749
Gene: ENSMUSG00000038205
AA Change: E57G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CFF|D
|
1 |
176 |
1e-68 |
PDB |
|
Blast:AMPKBI
|
91 |
176 |
6e-50 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (31/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,655,017 (GRCm39) |
V1447G |
probably damaging |
Het |
| Adgrf2 |
A |
T |
17: 43,021,451 (GRCm39) |
F458I |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,556,554 (GRCm39) |
E571G |
possibly damaging |
Het |
| Ap1b1 |
T |
A |
11: 4,968,027 (GRCm39) |
N179K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,715,169 (GRCm39) |
F2053L |
probably damaging |
Het |
| Ddx18 |
A |
G |
1: 121,487,904 (GRCm39) |
V378A |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,263,743 (GRCm39) |
F826S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,984,701 (GRCm39) |
N3133S |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,943 (GRCm39) |
T275A |
probably benign |
Het |
| Gm5862 |
A |
T |
5: 26,224,444 (GRCm39) |
V175E |
probably benign |
Het |
| Gprin3 |
A |
G |
6: 59,331,990 (GRCm39) |
S106P |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,284,894 (GRCm39) |
L666P |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,572 (GRCm39) |
D686G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,432 (GRCm39) |
|
probably null |
Het |
| Or8g52 |
T |
C |
9: 39,630,841 (GRCm39) |
V106A |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,662 (GRCm39) |
V323A |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,632,288 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,968,166 (GRCm39) |
I1208F |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,887,138 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
G |
3: 134,637,910 (GRCm39) |
R356G |
possibly damaging |
Het |
| Tmc4 |
A |
G |
7: 3,674,421 (GRCm39) |
V310A |
probably benign |
Het |
| Tmem205 |
G |
A |
9: 21,832,354 (GRCm39) |
L186F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,617,553 (GRCm39) |
E16306G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,915,538 (GRCm39) |
*497W |
probably null |
Het |
| Ubr1 |
G |
A |
2: 120,741,596 (GRCm39) |
T979I |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,255 (GRCm39) |
I259N |
possibly damaging |
Het |
| Vmp1 |
G |
A |
11: 86,498,064 (GRCm39) |
P284S |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,693,018 (GRCm39) |
S299P |
probably damaging |
Het |
| Zfp438 |
G |
T |
18: 5,211,010 (GRCm39) |
S676* |
probably null |
Het |
| Zfp94 |
T |
A |
7: 24,002,155 (GRCm39) |
Y429F |
probably damaging |
Het |
|
| Other mutations in Prkab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Prkab2
|
APN |
3 |
97,569,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAATGATGTGTGCCATATG -3'
(R):5'- ATGCTGTCAGAAGCTCCTGAG -3'
Sequencing Primer
(F):5'- CAGTTGCTGAATTTGGGC -3'
(R):5'- AGGTGTCTGCTCCTGCACAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation