Mutagenetix > Incidental Mutation

Incidental Mutation 'R8326:Prkaa2'

644098

Institutional Source

Beutler Lab

Gene Symbol

Prkaa2

Ensembl Gene

ENSMUSG00000028518

Gene Name

protein kinase, AMP-activated, alpha 2 catalytic subunit

Synonyms

AMPKalpha2, 2310008I11Rik

MMRRC Submission

067726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104887071-104967087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104893495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 485 (T485A)

Ref Sequence

ENSEMBL: ENSMUSP00000030243 (fasta)

Gene Model

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

AlphaFold

Q8BRK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030243
AA Change: T485A

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: T485A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,533,190 (GRCm39)	T35A		Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Akt3	T	C	1: 176,877,611 (GRCm39)	N386D	possibly damaging	Het
Aox1	A	T	1: 58,335,046 (GRCm39)	H282L	probably benign	Het
Asb7	G	T	7: 66,309,675 (GRCm39)	N180K	possibly damaging	Het
Cdh23	T	C	10: 60,274,591 (GRCm39)	S500G	possibly damaging	Het
Cubn	C	T	2: 13,311,274 (GRCm39)	E3084K	probably benign	Het
Cyp2r1	G	A	7: 114,152,405 (GRCm39)	T184I	probably damaging	Het
Dclk3	A	G	9: 111,296,602 (GRCm39)	R49G	probably damaging	Het
Dcp1a	C	T	14: 30,241,527 (GRCm39)	Q446*	probably null	Het
Dnah9	A	G	11: 66,008,452 (GRCm39)	I791T	probably benign	Het
Dock10	A	T	1: 80,583,892 (GRCm39)	V189D	possibly damaging	Het
Dsg4	A	G	18: 20,582,788 (GRCm39)	E142G	probably benign	Het
Dsp	A	T	13: 38,375,611 (GRCm39)	D1132V	probably damaging	Het
Dync2h1	A	G	9: 7,147,771 (GRCm39)	M953T	probably benign	Het
Ecpas	G	T	4: 58,847,093 (GRCm39)	Q490K	probably damaging	Het
Ero1a	T	C	14: 45,531,805 (GRCm39)	H251R	probably damaging	Het
Fer1l5	A	G	1: 36,415,841 (GRCm39)	Y124C	probably benign	Het
Frmpd2	C	A	14: 33,232,992 (GRCm39)	P404Q	probably damaging	Het
Gpr87	G	T	3: 59,102,395 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,305,319 (GRCm39)	Y1217H	unknown	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Irf9	T	A	14: 55,843,210 (GRCm39)	D137E	probably benign	Het
Jup	G	T	11: 100,272,571 (GRCm39)	N280K	probably benign	Het
Kcna7	T	C	7: 45,058,765 (GRCm39)	F351L	probably damaging	Het
Klk13	A	T	7: 43,376,136 (GRCm39)	R270S	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myo5a	T	C	9: 75,125,271 (GRCm39)	V1855A	probably damaging	Het
Neb	T	C	2: 52,111,714 (GRCm39)	T138A	probably damaging	Het
Nfkbie	C	A	17: 45,870,234 (GRCm39)	T193K	probably damaging	Het
Nlrp4b	A	G	7: 10,452,471 (GRCm39)	K613E	probably benign	Het
Obox6	T	C	7: 15,567,481 (GRCm39)	E322G	possibly damaging	Het
Or51ai2	A	G	7: 103,586,809 (GRCm39)	D74G	probably damaging	Het
Or5v1b	T	G	17: 37,841,470 (GRCm39)	S201A	probably benign	Het
Or8b36	T	C	9: 37,938,014 (GRCm39)	M304T	probably benign	Het
Parn	A	T	16: 13,483,835 (GRCm39)	N36K	probably benign	Het
Ppp6r2	A	G	15: 89,164,650 (GRCm39)	E618G	probably benign	Het
Prdm13	A	G	4: 21,679,557 (GRCm39)	L311P	unknown	Het
Prmt2	G	T	10: 76,053,247 (GRCm39)	T256K	probably benign	Het
Rspry1	T	C	8: 95,366,217 (GRCm39)	Y362H	probably damaging	Het
Slc16a14	A	T	1: 84,890,066 (GRCm39)	I413N	possibly damaging	Het
Slc8a1	T	C	17: 81,715,535 (GRCm39)	T821A	probably damaging	Het
Spock2	A	T	10: 59,962,777 (GRCm39)	K276N	probably damaging	Het
Synj1	A	T	16: 90,785,084 (GRCm39)	N257K	probably benign	Het
Taar7f	T	C	10: 23,925,811 (GRCm39)	L135P	possibly damaging	Het
Tmem132b	T	C	5: 125,864,618 (GRCm39)	F908S	probably damaging	Het
Tmem202	A	T	9: 59,426,500 (GRCm39)	V222D	probably benign	Het
Trim33	T	A	3: 103,218,770 (GRCm39)	C302*	probably null	Het
Tuba4a	G	A	1: 75,195,265 (GRCm39)	S1L		Het
Tyrp1	G	A	4: 80,768,921 (GRCm39)	E472K	probably benign	Het
V1ra8	A	G	6: 90,180,246 (GRCm39)	I150V	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,180 (GRCm39)	M686K	possibly damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Prkaa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Prkaa2	APN	4	104,932,659 (GRCm39)	missense	probably damaging	1.00
IGL01350:Prkaa2	APN	4	104,909,109 (GRCm39)	splice site	probably null
IGL01474:Prkaa2	APN	4	104,906,529 (GRCm39)	critical splice donor site	probably null
IGL02149:Prkaa2	APN	4	104,897,285 (GRCm39)	missense	probably benign	0.01
IGL02187:Prkaa2	APN	4	104,904,363 (GRCm39)	missense	probably benign	0.10
IGL03185:Prkaa2	APN	4	104,896,918 (GRCm39)	critical splice donor site	probably null
R0004:Prkaa2	UTSW	4	104,904,288 (GRCm39)	missense	probably null	1.00
R1536:Prkaa2	UTSW	4	104,932,647 (GRCm39)	missense	probably damaging	1.00
R1588:Prkaa2	UTSW	4	104,908,420 (GRCm39)	missense	probably damaging	0.96
R1596:Prkaa2	UTSW	4	104,893,526 (GRCm39)	missense	probably damaging	1.00
R1920:Prkaa2	UTSW	4	104,893,950 (GRCm39)	nonsense	probably null
R2356:Prkaa2	UTSW	4	104,896,918 (GRCm39)	critical splice donor site	probably null
R2995:Prkaa2	UTSW	4	104,909,204 (GRCm39)	missense	probably damaging	1.00
R4037:Prkaa2	UTSW	4	104,908,444 (GRCm39)	missense	probably damaging	1.00
R4038:Prkaa2	UTSW	4	104,908,444 (GRCm39)	missense	probably damaging	1.00
R4039:Prkaa2	UTSW	4	104,908,444 (GRCm39)	missense	probably damaging	1.00
R4257:Prkaa2	UTSW	4	104,897,153 (GRCm39)	missense	probably benign	0.00
R4810:Prkaa2	UTSW	4	104,897,011 (GRCm39)	missense	probably damaging	1.00
R5387:Prkaa2	UTSW	4	104,897,374 (GRCm39)	missense	probably damaging	1.00
R5813:Prkaa2	UTSW	4	104,893,291 (GRCm39)	makesense	probably null
R6812:Prkaa2	UTSW	4	104,904,349 (GRCm39)	missense	probably benign
R7417:Prkaa2	UTSW	4	104,932,740 (GRCm39)	missense	probably benign	0.05
R8156:Prkaa2	UTSW	4	104,909,172 (GRCm39)	missense	probably benign	0.44
R9051:Prkaa2	UTSW	4	104,906,600 (GRCm39)	nonsense	probably null
R9422:Prkaa2	UTSW	4	104,909,195 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCAGGGGTGGATAATCAACG -3'
(R):5'- TGCTGCATCTTCTAAACACAAG -3'

Sequencing Primer
(F):5'- CAGTGATAAGACTGGCGCACATTTC -3'
(R):5'- GCATCACAGTCCTTCCTAAGC -3'

Posted On

2020-09-02