Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Prkag2'

660588

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

067806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25067742-25305640 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25074137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 283 (R283*)

Ref Sequence

ENSEMBL: ENSMUSP00000110626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030784] [ENSMUST00000076306] [ENSMUST00000114975] [ENSMUST00000131486] [ENSMUST00000150135]

AlphaFold

Q91WG5

Predicted Effect

probably null
Transcript: ENSMUST00000030784
AA Change: R523*

SMART Domains

Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: R523*

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 null
Transcript: ENSMUST00000076306
AA Change: R400*

SMART Domains

Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: R400*

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 null
Transcript: ENSMUST00000114975
AA Change: R283*

SMART Domains

Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: R283*

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

probably benign
Transcript: ENSMUST00000131486

SMART Domains

Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944

Domain	Start	End	E-Value	Type
CBS	18	67	7.01e-6	SMART
CBS	99	148	4.28e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150135

SMART Domains

Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944

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

0.9642

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,676,297 (GRCm39)	S353R	probably damaging	Het
Ap1ar	T	C	3: 127,606,428 (GRCm39)		probably null	Het
Asxl1	C	A	2: 153,235,345 (GRCm39)	N213K	probably benign	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,401,334 (GRCm39)	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,233,414 (GRCm39)	V296I	probably benign	Het
Cldn5	A	G	16: 18,596,043 (GRCm39)	T100A	probably benign	Het
Ctnna1	C	A	18: 35,385,776 (GRCm39)	N802K	possibly damaging	Het
Dennd2b	G	A	7: 109,124,755 (GRCm39)	R675*	probably null	Het
Dip2c	A	G	13: 9,671,918 (GRCm39)	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,862,234 (GRCm39)	D203V	probably benign	Het
Dnajc13	A	G	9: 104,094,927 (GRCm39)	M585T	probably damaging	Het
Donson	G	T	16: 91,480,685 (GRCm39)	T262K	possibly damaging	Het
E2f3	T	A	13: 30,169,787 (GRCm39)		probably benign	Het
Fam110c	A	G	12: 31,125,178 (GRCm39)	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,242,027 (GRCm39)	T177P	probably damaging	Het
Gins3	C	T	8: 96,364,646 (GRCm39)	A132V	probably benign	Het
Glra3	T	A	8: 56,578,345 (GRCm39)	Y467*	probably null	Het
Gm7138	A	G	10: 77,612,444 (GRCm39)		probably benign	Het
Golim4	T	C	3: 75,802,308 (GRCm39)	E328G	probably damaging	Het
Habp2	T	A	19: 56,301,388 (GRCm39)	C270*	probably null	Het
Hecw2	A	G	1: 53,964,467 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,634,142 (GRCm39)	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,887,619 (GRCm39)	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,220,260 (GRCm39)	V57A	probably damaging	Het
Itpkb	G	A	1: 180,160,908 (GRCm39)	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,334,893 (GRCm39)	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,127,211 (GRCm39)	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,375,235 (GRCm39)	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Krt10	A	G	11: 99,280,086 (GRCm39)		probably benign	Het
Lgals3bp	T	A	11: 118,289,367 (GRCm39)	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,843 (GRCm39)	L293P	probably damaging	Het
Mical3	T	C	6: 120,950,381 (GRCm39)	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,169,224 (GRCm39)	R380L	probably damaging	Het
Msh5	A	G	17: 35,250,742 (GRCm39)	F469L	possibly damaging	Het
Ncam2	A	G	16: 81,309,847 (GRCm39)	T446A	probably benign	Het
Neurl4	A	G	11: 69,800,062 (GRCm39)	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,509,793 (GRCm39)	Y714H	possibly damaging	Het
Or5d43	T	C	2: 88,105,036 (GRCm39)	D119G	probably damaging	Het
Or8c17	T	C	9: 38,180,513 (GRCm39)	S235P	probably benign	Het
Pcnx2	T	C	8: 126,488,357 (GRCm39)	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,681,707 (GRCm39)	L1051Q	probably damaging	Het
Prrc1	T	A	18: 57,504,503 (GRCm39)	M238K	probably damaging	Het
Ptprj	T	C	2: 90,300,061 (GRCm39)	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,614 (GRCm39)	Y568C	probably damaging	Het
Rab36	G	A	10: 74,884,291 (GRCm39)	A114T	probably damaging	Het
Rfx7	T	C	9: 72,526,731 (GRCm39)	V1307A	probably benign	Het
Scaf1	A	C	7: 44,657,251 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,866 (GRCm39)	T440S	probably benign	Het
Setbp1	A	T	18: 78,900,598 (GRCm39)	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931 (GRCm39)	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313 (GRCm38)	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,222,753 (GRCm39)	H162R	probably benign	Het
Spata31f1e	T	A	4: 42,793,223 (GRCm39)	H303L	probably benign	Het
Strip2	G	A	6: 29,920,531 (GRCm39)		probably null	Het
Stx2	T	A	5: 129,071,932 (GRCm39)	I42L	probably benign	Het
Tas2r124	A	T	6: 132,732,410 (GRCm39)	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,115,070 (GRCm39)	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,766,181 (GRCm39)	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,018,439 (GRCm39)	T74A	possibly damaging	Het
Trim16	G	T	11: 62,727,587 (GRCm39)	R216L	probably benign	Het
Trmt10c	T	C	16: 55,854,870 (GRCm39)	K255R	probably benign	Het
Trpm2	A	T	10: 77,769,483 (GRCm39)	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,399,005 (GRCm39)	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928 (GRCm39)	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 78,984,710 (GRCm39)	I21F	probably benign	Het
Wdr11	T	C	7: 129,204,723 (GRCm39)	L176S	probably damaging	Het
Zfp992	A	G	4: 146,551,319 (GRCm39)	T347A	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
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
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'- AGCCTTCCCATCTGTGTATCAAAC -3'
(R):5'- CGGCATGCCAGATTCTACAG -3'

Sequencing Primer
(F):5'- TCAAACACTATTCTGGGGTTCAG -3'
(R):5'- CGGCATGCCAGATTCTACAGTTAATG -3'

Posted On

2021-01-18