Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02149:Prkaa2'

281886

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkaa2

Ensembl Gene

ENSMUSG00000028518

Gene Name

protein kinase, AMP-activated, alpha 2 catalytic subunit

Synonyms

AMPKalpha2, 2310008I11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02149

Quality Score

Status

Chromosome

Chromosomal Location

104887071-104967087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104897285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 309 (N309K)

Ref Sequence

ENSEMBL: ENSMUSP00000030243 (fasta)

Gene Model

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

AlphaFold

Q8BRK8

Predicted Effect

probably benign
Transcript: ENSMUST00000030243
AA Change: N309K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: N309K

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	T	9: 70,610,713 (GRCm39)	H67L	probably damaging	Het
Adgrb1	C	T	15: 74,412,326 (GRCm39)	T435I	probably damaging	Het
Adgrd1	T	A	5: 129,256,325 (GRCm39)	F652Y	probably damaging	Het
Adgrl4	T	A	3: 151,205,991 (GRCm39)	F250Y	possibly damaging	Het
Aebp2	C	T	6: 140,588,010 (GRCm39)	A360V	probably benign	Het
AW551984	A	C	9: 39,504,220 (GRCm39)	M582R	probably benign	Het
B430306N03Rik	T	C	17: 48,624,020 (GRCm39)	V107A	probably benign	Het
Cage1	T	C	13: 38,206,505 (GRCm39)	N447D	probably damaging	Het
Col17a1	T	C	19: 47,657,071 (GRCm39)	D524G	probably benign	Het
Dpp6	A	T	5: 27,743,022 (GRCm39)	I218F	probably benign	Het
Ep300	T	G	15: 81,512,621 (GRCm39)		probably benign	Het
Ephb2	C	T	4: 136,421,225 (GRCm39)	C375Y	probably damaging	Het
Fastk	A	G	5: 24,649,051 (GRCm39)	V112A	probably damaging	Het
Fbxo11	T	A	17: 88,301,187 (GRCm39)	R775S	possibly damaging	Het
Fbxw20	A	G	9: 109,062,886 (GRCm39)		probably null	Het
Hamp2	G	T	7: 30,622,122 (GRCm39)	A50E	probably damaging	Het
Il22b	C	A	10: 118,130,902 (GRCm39)		probably benign	Het
Ints1	G	A	5: 139,737,715 (GRCm39)	R2139C	probably damaging	Het
Itgae	T	A	11: 72,994,720 (GRCm39)	V24E	probably benign	Het
Jakmip3	G	A	7: 138,609,075 (GRCm39)	V60M	possibly damaging	Het
Kcnk10	A	C	12: 98,485,099 (GRCm39)		probably benign	Het
Klra1	A	T	6: 130,352,293 (GRCm39)	C150S	probably damaging	Het
Lhx9	A	T	1: 138,759,172 (GRCm39)	V376E	probably damaging	Het
Mdm1	T	A	10: 117,983,970 (GRCm39)	F199I	probably damaging	Het
Nipal3	G	T	4: 135,194,163 (GRCm39)	T290K	possibly damaging	Het
Obsl1	C	T	1: 75,480,464 (GRCm39)	E387K	probably damaging	Het
Or8b43	A	G	9: 38,360,693 (GRCm39)	H175R	probably damaging	Het
Oxct1	A	G	15: 4,120,711 (GRCm39)	Y265C	probably damaging	Het
Pccb	G	A	9: 100,867,243 (GRCm39)	H411Y	probably damaging	Het
Pkp1	A	G	1: 135,814,485 (GRCm39)	S279P	probably benign	Het
Prdm14	C	A	1: 13,195,663 (GRCm39)	G133C	probably benign	Het
Shc2	T	C	10: 79,458,102 (GRCm39)	D527G	probably damaging	Het
Shkbp1	C	T	7: 27,042,064 (GRCm39)		probably benign	Het
Skil	T	C	3: 31,151,856 (GRCm39)	V126A	possibly damaging	Het
Slc25a36	A	T	9: 96,975,122 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,924 (GRCm39)	T423A	probably benign	Het
Spty2d1	A	G	7: 46,657,892 (GRCm39)		probably benign	Het
Stag1	A	G	9: 100,769,442 (GRCm39)	D519G	probably benign	Het
Tmprss2	G	T	16: 97,400,479 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,060,109 (GRCm39)	T759K	possibly damaging	Het
Trpc4ap	C	A	2: 155,481,467 (GRCm39)	A530S	probably damaging	Het
Ttn	A	T	2: 76,642,099 (GRCm39)	D11625E	probably damaging	Het
Ube4b	T	C	4: 149,483,141 (GRCm39)	I42M	possibly damaging	Het
Ubxn10	A	G	4: 138,448,584 (GRCm39)	S31P	probably benign	Het
Ubxn7	A	G	16: 32,194,088 (GRCm39)	Y220C	probably damaging	Het
Vmn1r234	A	G	17: 21,449,269 (GRCm39)	Y61C	probably benign	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
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
R8326:Prkaa2	UTSW	4	104,893,495 (GRCm39)	missense	possibly damaging	0.67
R9051:Prkaa2	UTSW	4	104,906,600 (GRCm39)	nonsense	probably null
R9422:Prkaa2	UTSW	4	104,909,195 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16