Incidental Mutation 'R1400:Prkag2'
| ID |
160312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkag2
|
| Ensembl Gene |
ENSMUSG00000028944 |
| Gene Name |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
| Synonyms |
2410051C13Rik |
| MMRRC Submission |
039462-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
25067742-25305640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25078916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 158
(T158I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030784]
[ENSMUST00000076306]
[ENSMUST00000114975]
[ENSMUST00000131486]
[ENSMUST00000150135]
|
| AlphaFold |
Q91WG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030784
AA Change: T397I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: T397I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
243 |
N/A |
INTRINSIC |
|
CBS
|
276 |
325 |
7.01e-6 |
SMART |
|
CBS
|
357 |
406 |
4.28e-10 |
SMART |
|
CBS
|
432 |
480 |
8.11e-11 |
SMART |
|
CBS
|
504 |
552 |
3.62e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076306
AA Change: T274I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: T274I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
119 |
N/A |
INTRINSIC |
|
CBS
|
153 |
202 |
7.01e-6 |
SMART |
|
CBS
|
234 |
283 |
4.28e-10 |
SMART |
|
CBS
|
309 |
357 |
8.11e-11 |
SMART |
|
CBS
|
381 |
429 |
3.62e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114975
AA Change: T157I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: T157I
| Domain | Start | End | E-Value | Type |
|---|
|
CBS
|
36 |
85 |
7.01e-6 |
SMART |
|
CBS
|
117 |
166 |
4.28e-10 |
SMART |
|
CBS
|
192 |
240 |
8.11e-11 |
SMART |
|
CBS
|
264 |
312 |
3.62e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129022
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131486
AA Change: T139I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944
AA Change: T139I
| Domain | Start | End | E-Value | Type |
|---|
|
CBS
|
18 |
67 |
7.01e-6 |
SMART |
|
CBS
|
99 |
148 |
4.28e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135525
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150135
AA Change: T158I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944
AA Change: T158I
| Domain | Start | End | E-Value | Type |
|---|
|
CBS
|
37 |
86 |
7.01e-6 |
SMART |
|
CBS
|
118 |
167 |
4.28e-10 |
SMART |
|
CBS
|
193 |
241 |
8.11e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139698
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous constitutively active mutants develop age related obesity caused by polyphagia, glucose intolerance and insulin resistance and exhibit slowing of heart rate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
C |
17: 41,191,195 (GRCm39) |
E78G |
probably damaging |
Het |
| Acsf2 |
T |
C |
11: 94,461,142 (GRCm39) |
I345V |
probably benign |
Het |
| Akap11 |
T |
A |
14: 78,751,402 (GRCm39) |
K328N |
probably damaging |
Het |
| Aoc1 |
T |
A |
6: 48,883,217 (GRCm39) |
Y364* |
probably null |
Het |
| Aoc1 |
A |
T |
6: 48,883,645 (GRCm39) |
Q507L |
probably benign |
Het |
| Atp6v1c2 |
T |
C |
12: 17,339,131 (GRCm39) |
T207A |
probably benign |
Het |
| Atr |
C |
A |
9: 95,744,901 (GRCm39) |
Q73K |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,216,400 (GRCm39) |
S17P |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,241,575 (GRCm39) |
I649F |
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,681,412 (GRCm39) |
K200R |
probably damaging |
Het |
| Crygd |
A |
G |
1: 65,102,367 (GRCm39) |
S32P |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,799,299 (GRCm39) |
I296T |
probably damaging |
Het |
| Fads3 |
A |
G |
19: 10,033,664 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,213,265 (GRCm39) |
E974G |
possibly damaging |
Het |
| Gcgr |
A |
G |
11: 120,425,812 (GRCm39) |
H45R |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,752,220 (GRCm39) |
I2112T |
probably damaging |
Het |
| Gm43302 |
A |
T |
5: 105,422,622 (GRCm39) |
I470N |
probably damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,012,110 (GRCm39) |
G71V |
probably damaging |
Het |
| Las1l |
T |
C |
X: 94,990,506 (GRCm39) |
T390A |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,220,346 (GRCm39) |
V992E |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,164,788 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,350,477 (GRCm39) |
F636S |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 14,975,185 (GRCm39) |
D232G |
possibly damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,085 (GRCm39) |
E524V |
possibly damaging |
Het |
| Nxf3 |
T |
A |
X: 134,976,794 (GRCm39) |
T349S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,886 (GRCm39) |
H191L |
possibly damaging |
Het |
| Or4n5 |
A |
T |
14: 50,133,148 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,358 (GRCm39) |
V273A |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,477 (GRCm39) |
C111R |
possibly damaging |
Het |
| Plscr1l1 |
G |
T |
9: 92,233,180 (GRCm39) |
C25F |
probably benign |
Het |
| Ppm1e |
T |
A |
11: 87,122,592 (GRCm39) |
N455I |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,502,587 (GRCm39) |
|
probably null |
Het |
| Rai14 |
T |
G |
15: 10,571,634 (GRCm39) |
K936N |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,035,808 (GRCm39) |
L1077P |
probably damaging |
Het |
| Rgn |
C |
A |
X: 20,416,696 (GRCm39) |
Q27K |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,609,962 (GRCm39) |
S723N |
probably benign |
Het |
| Scamp1 |
A |
G |
13: 94,361,455 (GRCm39) |
F142L |
possibly damaging |
Het |
| Selenon |
A |
G |
4: 134,278,829 (GRCm39) |
V67A |
probably benign |
Het |
| Slc5a5 |
T |
C |
8: 71,342,079 (GRCm39) |
I292V |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,654,140 (GRCm39) |
T775K |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,861,787 (GRCm39) |
V2437I |
possibly damaging |
Het |
| Tas2r143 |
C |
T |
6: 42,377,317 (GRCm39) |
A49V |
probably benign |
Het |
| Tlr7 |
T |
A |
X: 166,090,845 (GRCm39) |
N214Y |
probably damaging |
Het |
| Unc13a |
C |
A |
8: 72,103,865 (GRCm39) |
D856Y |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,118 (GRCm39) |
Y263H |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,892,415 (GRCm39) |
S349P |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,336 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
T |
C |
5: 124,963,217 (GRCm39) |
C204R |
unknown |
Het |
| Zfp729b |
A |
G |
13: 67,740,913 (GRCm39) |
Y451H |
possibly damaging |
Het |
|
| Other mutations in Prkag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Prkag2
|
APN |
5 |
25,226,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0437:Prkag2
|
UTSW |
5 |
25,233,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0622:Prkag2
|
UTSW |
5 |
25,074,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0755:Prkag2
|
UTSW |
5 |
25,152,629 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1561:Prkag2
|
UTSW |
5 |
25,076,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Prkag2
|
UTSW |
5 |
25,152,475 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1612:Prkag2
|
UTSW |
5 |
25,082,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1615:Prkag2
|
UTSW |
5 |
25,080,176 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1700:Prkag2
|
UTSW |
5 |
25,076,539 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2011:Prkag2
|
UTSW |
5 |
25,076,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2045:Prkag2
|
UTSW |
5 |
25,152,580 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2230:Prkag2
|
UTSW |
5 |
25,113,362 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2863:Prkag2
|
UTSW |
5 |
25,226,790 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3104:Prkag2
|
UTSW |
5 |
25,076,067 (GRCm39) |
nonsense |
probably null |
|
|
R4193:Prkag2
|
UTSW |
5 |
25,083,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Prkag2
|
UTSW |
5 |
25,071,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Prkag2
|
UTSW |
5 |
25,083,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Prkag2
|
UTSW |
5 |
25,083,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Prkag2
|
UTSW |
5 |
25,152,534 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6414:Prkag2
|
UTSW |
5 |
25,305,178 (GRCm39) |
start gained |
probably benign |
|
|
R6510:Prkag2
|
UTSW |
5 |
25,305,286 (GRCm39) |
start gained |
probably benign |
|
|
R6511:Prkag2
|
UTSW |
5 |
25,305,286 (GRCm39) |
start gained |
probably benign |
|
|
R7035:Prkag2
|
UTSW |
5 |
25,152,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Prkag2
|
UTSW |
5 |
25,226,967 (GRCm39) |
missense |
probably benign |
|
|
R7211:Prkag2
|
UTSW |
5 |
25,200,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Prkag2
|
UTSW |
5 |
25,085,684 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8204:Prkag2
|
UTSW |
5 |
25,074,125 (GRCm39) |
splice site |
probably null |
|
|
R8354:Prkag2
|
UTSW |
5 |
25,074,137 (GRCm39) |
nonsense |
probably null |
|
|
R8401:Prkag2
|
UTSW |
5 |
25,068,868 (GRCm39) |
missense |
probably benign |
|
|
R8560:Prkag2
|
UTSW |
5 |
25,071,063 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8747:Prkag2
|
UTSW |
5 |
25,085,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9634:Prkag2
|
UTSW |
5 |
25,074,238 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGAGAAGCTGAACTGTTGCGAG -3'
(R):5'- TGGAGATCCATGTCCCCTGAATCTG -3'
Sequencing Primer
(F):5'- CTGTTGCGAGACGGAGAC -3'
(R):5'- ATGTCCCCTGAATCTGAGATATGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation