Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Prkag2'

570726

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

045439-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25067742-25305640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25085684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 312 (V312E)

Ref Sequence

ENSEMBL: ENSMUSP00000030784 (fasta)

Gene Model

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

AlphaFold

Q91WG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030784
AA Change: V312E

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: V312E

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: V189E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: V189E

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

possibly damaging
Transcript: ENSMUST00000114975
AA Change: V72E

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: V72E

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

possibly damaging
Transcript: ENSMUST00000131486
AA Change: V54E

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944
AA Change: V54E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150135
AA Change: V73E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944
AA Change: V73E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,714 (GRCm39)	A11S	unknown	Het
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,546,731 (GRCm39)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,403,495 (GRCm39)	I427F	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,542,993 (GRCm39)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,211,710 (GRCm39)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,306,341 (GRCm39)	T454A	probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Boc	C	T	16: 44,306,100 (GRCm39)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,413,368 (GRCm39)	N635K	probably benign	Het
Ccr2	T	C	9: 123,906,793 (GRCm39)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,663,100 (GRCm39)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,386,335 (GRCm39)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,933,161 (GRCm39)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,943 (GRCm39)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,107,230 (GRCm39)	R304L	possibly damaging	Het
Dop1a	T	A	9: 86,394,912 (GRCm39)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,750,741 (GRCm39)	E336V	probably damaging	Het
Eml5	A	G	12: 98,791,683 (GRCm39)	Y63H		Het
Fbxo41	G	T	6: 85,456,958 (GRCm39)	R404S	possibly damaging	Het
Gpr155	A	T	2: 73,197,835 (GRCm39)	Y456*	probably null	Het
Gpr156	T	A	16: 37,812,523 (GRCm39)	N286K	probably damaging	Het
Kcna5	A	G	6: 126,511,808 (GRCm39)	S107P	probably benign	Het
Kcne2	A	T	16: 92,093,710 (GRCm39)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,648,025 (GRCm39)	M113L	probably benign	Het
Lad1	T	A	1: 135,755,513 (GRCm39)	L263Q	probably damaging	Het
Lctl	G	A	9: 64,034,249 (GRCm39)	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,437,424 (GRCm39)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,029,079 (GRCm39)	R661L	unknown	Het
Mcm10	G	A	2: 5,011,920 (GRCm39)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,108,247 (GRCm39)	A446D		Het
N4bp2	G	A	5: 65,963,714 (GRCm39)	V588M	probably benign	Het
Naip6	C	T	13: 100,436,259 (GRCm39)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,229,099 (GRCm39)	V213A	probably damaging	Het
Nrdc	A	G	4: 108,896,946 (GRCm39)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,042,763 (GRCm39)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,534,296 (GRCm39)	L707S	probably damaging	Het
Oas2	A	T	5: 120,876,587 (GRCm39)	V452D	probably damaging	Het
Or10a3n	A	G	7: 108,493,429 (GRCm39)	F67L	probably damaging	Het
Or1j1	A	G	2: 36,702,915 (GRCm39)	L63P	probably damaging	Het
Or1j4	A	T	2: 36,740,081 (GRCm39)	M8L	probably benign	Het
Or1n1	G	A	2: 36,749,680 (GRCm39)	R227*	probably null	Het
Or52s1	A	C	7: 102,861,516 (GRCm39)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,914,327 (GRCm39)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm39)	P33L	probably damaging	Het
Rps17	T	A	7: 80,994,093 (GRCm39)	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,904,038 (GRCm39)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,205,807 (GRCm39)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,339,764 (GRCm39)	C56S	possibly damaging	Het
Speer1f	G	A	5: 11,466,403 (GRCm39)	D7N	possibly damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,147,640 (GRCm39)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,724,315 (GRCm39)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,934,278 (GRCm39)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,038,497 (GRCm39)		probably null	Het
Tstd1	G	T	1: 171,247,523 (GRCm39)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,638,567 (GRCm39)	D252G	probably benign	Het
Ulk2	T	C	11: 61,710,174 (GRCm39)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,481,355 (GRCm39)	D1694G	probably benign	Het
Vill	T	C	9: 118,894,561 (GRCm39)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,564,887 (GRCm39)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,232,452 (GRCm39)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,315,088 (GRCm39)	S263P	probably benign	Het
Zfp980	A	G	4: 145,428,714 (GRCm39)	D481G	probably benign	Het
Zmpste24	A	G	4: 120,952,778 (GRCm39)	S81P	probably damaging	Het
Znrf4	A	G	17: 56,819,169 (GRCm39)	V46A	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
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'- CTTTGGTGTGCTCAGAAACTG -3'
(R):5'- ACTGGTAAGAGTCTGTTGAAACC -3'

Sequencing Primer
(F):5'- TGTCTTAAAAACACTAGTGGTCTGG -3'
(R):5'- AGAGTCTGTTGAAACCTTAGTTGAG -3'

Posted On

2019-09-13