Mutagenetix > Incidental Mutation

Incidental Mutation 'R6511:Prkag2'

519911

Institutional Source

Beutler Lab

Gene Symbol

Prkag2

Ensembl Gene

ENSMUSG00000028944

Gene Name

protein kinase, AMP-activated, gamma 2 non-catalytic subunit

Synonyms

MMRRC Submission

044639-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6511 (G1)

Quality Score

124.008

Status

Not validated

Chromosome

Chromosomal Location

24862744-25100642 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 25100288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030784]

AlphaFold

Q91WG5

Predicted Effect

probably benign
Transcript: ENSMUST00000030784

SMART Domains

Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944

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

noncoding transcript
Transcript: ENSMUST00000128569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171190

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,376,594	H718Y	probably damaging	Het
Abcc8	G	A	7: 46,150,861	T499I	possibly damaging	Het
Azin2	C	A	4: 128,934,466	R316L	probably damaging	Het
Cep85l	C	T	10: 53,278,092	V702I	probably benign	Het
Cfap69	A	T	5: 5,617,220	C442S	probably damaging	Het
Commd3	G	A	2: 18,674,839	G148R	probably benign	Het
Cyfip2	T	C	11: 46,196,308	T1252A	probably benign	Het
Cyp4a30b	A	T	4: 115,456,708	D162V	probably damaging	Het
Exoc3l	G	T	8: 105,293,255	T346K	probably benign	Het
Gas8	T	C	8: 123,524,157	V123A	probably benign	Het
Gm8890	A	G	5: 11,257,308	Y51C	probably benign	Het
Hmcn2	T	G	2: 31,356,342	D774E	possibly damaging	Het
Itga1	G	T	13: 114,992,501	S540R	probably damaging	Het
Itpr2	T	C	6: 146,329,727	N1145S	probably damaging	Het
Kcnc2	C	T	10: 112,462,067		probably benign	Het
Lrp5	G	A	19: 3,652,296	R174W	probably damaging	Het
Lrrn4	T	G	2: 132,870,326	S526R	probably benign	Het
Map3k6	G	A	4: 133,248,078	R708H	probably damaging	Het
Mefv	T	C	16: 3,715,946	T154A	probably benign	Het
Mkl2	T	A	16: 13,379,850	S66R	probably damaging	Het
Mtif2	G	T	11: 29,536,949	A320S	possibly damaging	Het
Nos2	A	G	11: 78,955,464		probably null	Het
Olfr1006	A	G	2: 85,674,840	S104P	possibly damaging	Het
Olfr725	A	G	14: 50,034,809	L198P	probably damaging	Het
Pip5k1c	T	C	10: 81,310,817	Y44H	probably damaging	Het
Ppp1r13b	T	C	12: 111,831,567	E972G	probably damaging	Het
Prdm12	T	C	2: 31,640,309	S71P	probably damaging	Het
Ptprb	T	C	10: 116,346,820	L1467P	probably damaging	Het
Rnf43	G	A	11: 87,732,163	V697I	probably benign	Het
Rpl7	C	A	1: 16,103,665	A12S	probably benign	Het
Slc25a54	T	G	3: 109,094,256	I120S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,788	H370R	probably damaging	Het
Sv2c	C	T	13: 96,048,525	V215I	probably benign	Het
Synpo2l	T	C	14: 20,662,450	E34G	probably damaging	Het
Tubgcp5	T	A	7: 55,817,392	C703*	probably null	Het
Vmn1r158	T	C	7: 22,790,691	K31R	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp2	A	T	11: 50,900,407	C270S	probably damaging	Het

Other mutations in Prkag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Prkag2	APN	5	25021965	missense	probably benign	0.01
R0437:Prkag2	UTSW	5	25028505	missense	possibly damaging	0.65
R0622:Prkag2	UTSW	5	24869249	missense	probably damaging	0.98
R0755:Prkag2	UTSW	5	24947631	missense	probably benign	0.25
R1400:Prkag2	UTSW	5	24873918	missense	probably damaging	1.00
R1561:Prkag2	UTSW	5	24871595	missense	probably damaging	1.00
R1569:Prkag2	UTSW	5	24947477	missense	possibly damaging	0.59
R1612:Prkag2	UTSW	5	24877028	missense	probably benign	0.06
R1615:Prkag2	UTSW	5	24875178	missense	possibly damaging	0.56
R1700:Prkag2	UTSW	5	24871541	missense	probably damaging	0.97
R2011:Prkag2	UTSW	5	24871054	critical splice donor site	probably null
R2045:Prkag2	UTSW	5	24947582	missense	possibly damaging	0.76
R2230:Prkag2	UTSW	5	24908364	missense	probably benign	0.10
R2863:Prkag2	UTSW	5	25021792	missense	probably benign	0.39
R3104:Prkag2	UTSW	5	24871069	nonsense	probably null
R4193:Prkag2	UTSW	5	24878760	missense	probably damaging	1.00
R4520:Prkag2	UTSW	5	24866171	missense	probably damaging	1.00
R4604:Prkag2	UTSW	5	24878734	missense	probably damaging	1.00
R5736:Prkag2	UTSW	5	24878722	missense	probably damaging	1.00
R6273:Prkag2	UTSW	5	24947536	missense	probably damaging	0.96
R6414:Prkag2	UTSW	5	25100180	start gained	probably benign
R6510:Prkag2	UTSW	5	25100288	start gained	probably benign
R7035:Prkag2	UTSW	5	24947566	missense	probably damaging	1.00
R7084:Prkag2	UTSW	5	25021969	missense	probably benign
R7211:Prkag2	UTSW	5	24995298	missense	probably benign	0.00
R7353:Prkag2	UTSW	5	24880686	missense	possibly damaging	0.85
R8204:Prkag2	UTSW	5	24869127	splice site	probably null
R8354:Prkag2	UTSW	5	24869139	nonsense	probably null
R8401:Prkag2	UTSW	5	24863870	missense	probably benign
R8560:Prkag2	UTSW	5	24866065	critical splice donor site	probably benign
R8747:Prkag2	UTSW	5	24880682	critical splice donor site	probably null
R9634:Prkag2	UTSW	5	24869240	missense	possibly damaging	0.83

Predicted Primers

Posted On

2018-06-06