Mutagenetix > Incidental Mutation

Incidental Mutation 'R6414:Prkag2'

514852

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

044556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6414 (G1)

Quality Score

206.009

Status

Not validated

Chromosome

Chromosomal Location

25067742-25305640 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 25305178 bp (GRCm39)

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Alpk1	T	C	3: 127,473,858 (GRCm39)	D715G	probably benign	Het
Atg101	T	A	15: 101,188,341 (GRCm39)	C149S	probably benign	Het
Atp2c1	A	T	9: 105,343,855 (GRCm39)	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,710,056 (GRCm39)	A360E	probably damaging	Het
Chd3	A	T	11: 69,243,371 (GRCm39)		probably null	Het
Clcc1	G	A	3: 108,584,167 (GRCm39)	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,769,465 (GRCm39)		probably null	Het
Ctnna3	T	C	10: 64,096,644 (GRCm39)	V394A	probably benign	Het
Ctsll3	A	G	13: 60,948,113 (GRCm39)	F188S	probably damaging	Het
Cyth4	T	C	15: 78,492,346 (GRCm39)	V125A	probably damaging	Het
Ddx43	G	A	9: 78,308,218 (GRCm39)	V131I	probably benign	Het
Elp4	A	G	2: 105,734,788 (GRCm39)	S16P	possibly damaging	Het
Espl1	T	A	15: 102,223,995 (GRCm39)	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,223,935 (GRCm39)	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,748,014 (GRCm39)	V350D	probably damaging	Het
Frem1	A	G	4: 82,858,773 (GRCm39)	F1545S	probably damaging	Het
Gata3	T	A	2: 9,863,245 (GRCm39)	H423L	possibly damaging	Het
Golt1a	A	T	1: 133,248,032 (GRCm39)	M87L	probably damaging	Het
Gpr171	A	T	3: 59,005,544 (GRCm39)	V77E	probably damaging	Het
Hectd2	A	G	19: 36,596,186 (GRCm39)	D757G	probably benign	Het
Hmmr	A	G	11: 40,606,694 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,660,441 (GRCm39)	V635A	possibly damaging	Het
Lama1	T	C	17: 68,053,905 (GRCm39)		probably null	Het
Ltbp4	G	A	7: 27,010,140 (GRCm39)	P1140L	probably damaging	Het
Macf1	A	G	4: 123,386,988 (GRCm39)	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,158,830 (GRCm39)	M1L	probably benign	Het
Mex3d	A	G	10: 80,217,205 (GRCm39)	S671P	unknown	Het
Mrgprb2	C	T	7: 48,202,129 (GRCm39)	V199I	probably benign	Het
Mroh9	A	T	1: 162,902,271 (GRCm39)	V114E	probably damaging	Het
Muc5b	A	G	7: 141,412,834 (GRCm39)	K1927E	unknown	Het
Or4f52	A	C	2: 111,061,497 (GRCm39)		probably null	Het
Or6c35	T	A	10: 129,169,578 (GRCm39)	I276K	probably benign	Het
Otogl	C	T	10: 107,617,911 (GRCm39)	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,021,258 (GRCm39)	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,546,898 (GRCm39)	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 99,904,747 (GRCm39)	A160S	possibly damaging	Het
Rap1gap2	A	G	11: 74,296,616 (GRCm39)	L457P	probably damaging	Het
Rasef	C	T	4: 73,658,818 (GRCm39)	V463M	probably benign	Het
Rb1	T	C	14: 73,520,414 (GRCm39)	S42G	unknown	Het
Reep3	C	A	10: 66,875,356 (GRCm39)	V36F	probably damaging	Het
Rhcg	A	G	7: 79,248,716 (GRCm39)		probably null	Het
Sbno1	T	C	5: 124,533,994 (GRCm39)	S661G	probably benign	Het
Slc25a3	T	G	10: 90,958,190 (GRCm39)	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,228,008 (GRCm39)	I395F	probably benign	Het
Slc6a5	C	T	7: 49,559,991 (GRCm39)		probably benign	Het
Snta1	G	C	2: 154,219,987 (GRCm39)	T391S	possibly damaging	Het
Spata7	T	C	12: 98,629,479 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,158,809 (GRCm39)		probably null	Het
Terf2	A	T	8: 107,803,486 (GRCm39)	S365T	probably benign	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trim8	A	T	19: 46,491,346 (GRCm39)	H155L	probably benign	Het
Wipi2	T	A	5: 142,641,693 (GRCm39)	V83D	probably damaging	Het
Zbtb47	T	G	9: 121,592,725 (GRCm39)	D348E	probably benign	Het
Zfp316	C	A	5: 143,240,639 (GRCm39)	R460L	possibly damaging	Het
Zfp799	C	T	17: 33,039,259 (GRCm39)	V336M	probably damaging	Het
Zfp947	A	T	17: 22,365,395 (GRCm39)	I93N	probably damaging	Het
Zranb3	A	G	1: 127,968,694 (GRCm39)	Y74H	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
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
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

Posted On

2018-05-04