Incidental Mutation 'R1561:Prkag2'
| ID |
170595 |
| 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 |
039600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
25067742-25305640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25076593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 191
(Y191C)
|
| 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: Y430C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: Y430C
| 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: Y307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: Y307C
| 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: Y190C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: Y190C
| 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: Y172C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944
AA Change: Y172C
| 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: Y191C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944
AA Change: Y191C
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,431 (GRCm39) |
N69D |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,342,344 (GRCm39) |
E171G |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,678,133 (GRCm39) |
V341A |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,750,492 (GRCm39) |
R56L |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,262,875 (GRCm39) |
V88A |
possibly damaging |
Het |
| Chfr |
A |
T |
5: 110,306,674 (GRCm39) |
D472V |
probably benign |
Het |
| Ckap2l |
G |
A |
2: 129,112,645 (GRCm39) |
T621I |
probably benign |
Het |
| Cmip |
A |
G |
8: 118,180,589 (GRCm39) |
T554A |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,757,579 (GRCm39) |
E905K |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,014,472 (GRCm39) |
S581* |
probably null |
Het |
| Fam227a |
T |
A |
15: 79,520,963 (GRCm39) |
Y291F |
possibly damaging |
Het |
| Gpr151 |
A |
T |
18: 42,712,221 (GRCm39) |
S152R |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,820,505 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
T |
C |
6: 126,511,546 (GRCm39) |
Y194C |
probably damaging |
Het |
| Khsrp |
A |
G |
17: 57,332,639 (GRCm39) |
S214P |
probably benign |
Het |
| Mrgprb1 |
C |
G |
7: 48,096,873 (GRCm39) |
|
probably null |
Het |
| Mrnip |
C |
T |
11: 50,067,676 (GRCm39) |
T30I |
probably damaging |
Het |
| Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
| Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
G |
11: 58,926,899 (GRCm39) |
T5539P |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
| Or9m1 |
C |
T |
2: 87,733,505 (GRCm39) |
V172I |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,805 (GRCm39) |
L198P |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,518 (GRCm39) |
V308A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
| Polr3b |
T |
A |
10: 84,470,776 (GRCm39) |
M139K |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,194,062 (GRCm39) |
C278S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,247,536 (GRCm39) |
T600A |
probably damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,129,217 (GRCm39) |
V726A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,451 (GRCm39) |
N603S |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,606 (GRCm39) |
E481G |
possibly damaging |
Het |
| Slc35a5 |
A |
C |
16: 44,971,884 (GRCm39) |
S127A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,199,694 (GRCm39) |
G2978* |
probably null |
Het |
| Srrt |
T |
A |
5: 137,298,281 (GRCm39) |
E297V |
probably benign |
Het |
| Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
| Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
| Tmem65 |
T |
A |
15: 58,694,707 (GRCm39) |
I91F |
probably benign |
Het |
| Top2b |
A |
G |
14: 16,398,993 (GRCm38) |
K538E |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 20,974,680 (GRCm39) |
R883* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,402,154 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,379,100 (GRCm39) |
Y5333* |
probably null |
Het |
| Zfp994 |
A |
C |
17: 22,420,206 (GRCm39) |
F248V |
probably 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 |
|
R1400:Prkag2
|
UTSW |
5 |
25,078,916 (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'- TCCTGACTGATGACTACTGAGCCG -3'
(R):5'- TCTGCAAACACACAGGGCTTCC -3'
Sequencing Primer
(F):5'- ACTACTGAGCCGCAGCC -3'
(R):5'- CTTCAGATCCCAGGGCTGAATAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation