Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Prkaa2'

32374

Institutional Source

Beutler Lab

Gene Symbol

Prkaa2

Ensembl Gene

ENSMUSG00000028518

Gene Name

protein kinase, AMP-activated, alpha 2 catalytic subunit

Synonyms

2310008I11Rik, AMPKalpha2

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0004 (G1)

Quality Score

199

Status

Validated (trace)

Chromosome

Chromosomal Location

105029874-105109890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105047091 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 263 (R263Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030243]

Predicted Effect

probably null
Transcript: ENSMUST00000030243
AA Change: R263Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: R263Q

Domain	Start	End	E-Value	Type
S_TKc	16	268	1.47e-103	SMART
Pfam:AdenylateSensor	401	501	6.4e-18	PFAM
low complexity region	511	527	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are hyperglycemic, hypoinsulinemic, and show glucose intolerance and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	Het

Other mutations in Prkaa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Prkaa2	APN	4	105075462	missense	probably damaging	1.00
IGL01350:Prkaa2	APN	4	105051912	splice site	probably null
IGL01474:Prkaa2	APN	4	105049332	critical splice donor site	probably null
IGL02149:Prkaa2	APN	4	105040088	missense	probably benign	0.01
IGL02187:Prkaa2	APN	4	105047166	missense	probably benign	0.10
IGL03185:Prkaa2	APN	4	105039721	critical splice donor site	probably null
R1536:Prkaa2	UTSW	4	105075450	missense	probably damaging	1.00
R1588:Prkaa2	UTSW	4	105051223	missense	probably damaging	0.96
R1596:Prkaa2	UTSW	4	105036329	missense	probably damaging	1.00
R1920:Prkaa2	UTSW	4	105036753	nonsense	probably null
R2356:Prkaa2	UTSW	4	105039721	critical splice donor site	probably null
R2995:Prkaa2	UTSW	4	105052007	missense	probably damaging	1.00
R4037:Prkaa2	UTSW	4	105051247	missense	probably damaging	1.00
R4038:Prkaa2	UTSW	4	105051247	missense	probably damaging	1.00
R4039:Prkaa2	UTSW	4	105051247	missense	probably damaging	1.00
R4257:Prkaa2	UTSW	4	105039956	missense	probably benign	0.00
R4810:Prkaa2	UTSW	4	105039814	missense	probably damaging	1.00
R5387:Prkaa2	UTSW	4	105040177	missense	probably damaging	1.00
R5813:Prkaa2	UTSW	4	105036094	makesense	probably null
R6812:Prkaa2	UTSW	4	105047152	missense	probably benign
R7417:Prkaa2	UTSW	4	105075543	missense	probably benign	0.05
R8156:Prkaa2	UTSW	4	105051975	missense	probably benign	0.44
R8326:Prkaa2	UTSW	4	105036298	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TAAGAGACTGGCTCCTCCTCACAC -3'
(R):5'- ACCCTCCCTTTCGATGATGAGCAC -3'

Sequencing Primer
(F):5'- ACATCACCAGGTTTGCCTAAG -3'
(R):5'- ACGTGCCTACGCTCTTCAAG -3'

Posted On

2013-05-09