Incidental Mutation 'R1612:Prkag2'
| ID |
176857 |
| 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 |
039649-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25067742-25305640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25082026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 96
(I96V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030784]
[ENSMUST00000076306]
[ENSMUST00000114975]
[ENSMUST00000131486]
[ENSMUST00000150135]
|
| AlphaFold |
Q91WG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030784
AA Change: I335V
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: I335V
| 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 benign
Transcript: ENSMUST00000076306
AA Change: I212V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: I212V
| 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 benign
Transcript: ENSMUST00000114975
AA Change: I95V
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: I95V
| 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 benign
Transcript: ENSMUST00000131486
AA Change: I77V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944
AA Change: I77V
| 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: ENSMUST00000139698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150135
AA Change: I96V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944
AA Change: I96V
| 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 |
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (69/71) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
A |
G |
3: 79,538,451 (GRCm39) |
T66A |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,350 (GRCm39) |
F31S |
probably damaging |
Het |
| Adamts7 |
T |
C |
9: 90,070,750 (GRCm39) |
S624P |
possibly damaging |
Het |
| Adh7 |
T |
C |
3: 137,934,642 (GRCm39) |
I355T |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,241,538 (GRCm39) |
E106G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,245 (GRCm39) |
V1483A |
possibly damaging |
Het |
| Cabp7 |
T |
C |
11: 4,689,198 (GRCm39) |
D149G |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,268,998 (GRCm39) |
Q362L |
possibly damaging |
Het |
| Cd14 |
G |
A |
18: 36,858,718 (GRCm39) |
Q246* |
probably null |
Het |
| Cdr2l |
A |
C |
11: 115,284,232 (GRCm39) |
E189D |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,654,748 (GRCm39) |
V991A |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,134 (GRCm39) |
W305R |
unknown |
Het |
| Cracr2a |
G |
T |
6: 127,580,892 (GRCm39) |
G23* |
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,366 (GRCm39) |
L40P |
possibly damaging |
Het |
| Eps8 |
G |
A |
6: 137,477,616 (GRCm39) |
P531S |
probably benign |
Het |
| Faap100 |
C |
A |
11: 120,267,914 (GRCm39) |
L286F |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,194,824 (GRCm39) |
C1446S |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,795,454 (GRCm39) |
V127A |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,490 (GRCm39) |
D1261G |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,474,462 (GRCm39) |
Q405K |
possibly damaging |
Het |
| Gdi2 |
T |
A |
13: 3,610,051 (GRCm39) |
V260E |
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,633,033 (GRCm39) |
V98M |
possibly damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,431 (GRCm39) |
Y278C |
probably damaging |
Het |
| Gm7732 |
G |
A |
17: 21,350,177 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,264,344 (GRCm39) |
|
probably null |
Het |
| Hbs1l |
T |
G |
10: 21,234,734 (GRCm39) |
F596V |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,860,279 (GRCm39) |
|
probably null |
Het |
| Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,969,601 (GRCm39) |
Y274C |
probably damaging |
Het |
| Limd1 |
A |
G |
9: 123,347,219 (GRCm39) |
Y620C |
probably damaging |
Het |
| Lvrn |
G |
T |
18: 47,027,770 (GRCm39) |
A862S |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,393,371 (GRCm39) |
E206G |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,735,079 (GRCm39) |
S461P |
probably damaging |
Het |
| Mrfap1 |
C |
A |
5: 36,953,706 (GRCm39) |
A78S |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,220,959 (GRCm39) |
N1715K |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,252,265 (GRCm39) |
|
probably benign |
Het |
| Ngly1 |
G |
T |
14: 16,290,867 (GRCm38) |
G450* |
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,501 (GRCm39) |
M98L |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,987 (GRCm39) |
M258T |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,118,791 (GRCm39) |
Y643* |
probably null |
Het |
| Pdilt |
T |
G |
7: 119,086,198 (GRCm39) |
N506H |
possibly damaging |
Het |
| Pear1 |
C |
T |
3: 87,659,160 (GRCm39) |
|
probably null |
Het |
| Pfkp |
A |
T |
13: 6,638,625 (GRCm39) |
M582K |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,403,820 (GRCm39) |
F251I |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,989,004 (GRCm39) |
Y252H |
probably damaging |
Het |
| Prdx3 |
A |
G |
19: 60,862,872 (GRCm39) |
S12P |
possibly damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,889 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
G |
A |
4: 62,544,172 (GRCm39) |
V146M |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,998,138 (GRCm39) |
D164G |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,259,324 (GRCm39) |
|
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,718,008 (GRCm39) |
N316D |
probably damaging |
Het |
| Snx14 |
A |
T |
9: 88,258,958 (GRCm39) |
M973K |
possibly damaging |
Het |
| Sptan1 |
C |
G |
2: 29,893,348 (GRCm39) |
R1126G |
probably damaging |
Het |
| Stpg3 |
T |
C |
2: 25,103,866 (GRCm39) |
T157A |
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,580,715 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,471 (GRCm39) |
|
probably null |
Het |
| Tsen34 |
G |
T |
7: 3,698,395 (GRCm39) |
G180W |
probably damaging |
Het |
| Ube2l6 |
C |
T |
2: 84,636,717 (GRCm39) |
R54W |
probably damaging |
Het |
| Vdac1 |
A |
T |
11: 52,274,897 (GRCm39) |
T182S |
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,058,515 (GRCm39) |
|
probably benign |
Het |
| Wsb1 |
T |
A |
11: 79,139,411 (GRCm39) |
Q95L |
probably benign |
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 |
|
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 |
|
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'- ACGTCCCTCAAAATGGGGAAGC -3'
(R):5'- GAAGGGCCACCCTAAAACCTGTTAC -3'
Sequencing Primer
(F):5'- GCAGGAAGCAGAGTGTTGTAG -3'
(R):5'- AGAAAATCTCTGTGGTTGTTCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation