Mutagenetix > Incidental Mutation

Incidental Mutation 'R9422:Prkaa2'

712369

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104887071-104967087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104909195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 83 (I83T)

Ref Sequence

ENSEMBL: ENSMUSP00000030243 (fasta)

Gene Model

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

AlphaFold

Q8BRK8

Predicted Effect

probably benign
Transcript: ENSMUST00000030243
AA Change: I83T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: I83T

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: 99.7%
20x: 98.9%

Validation Efficiency

96% (55/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,667,153 (GRCm39)	V209I		Het
Adamts18	T	A	8: 114,501,910 (GRCm39)	Y317F	probably damaging	Het
Adgrg6	C	T	10: 14,302,740 (GRCm39)	R863H	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ank2	C	A	3: 126,890,505 (GRCm39)	K55N	unknown	Het
B3galnt2	A	G	13: 14,150,136 (GRCm39)	T160A	probably benign	Het
Becn1	C	A	11: 101,192,832 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,444 (GRCm39)	N777S	possibly damaging	Het
Cd302	T	C	2: 60,082,697 (GRCm39)	Y209C	probably damaging	Het
Cfap69	A	G	5: 5,699,851 (GRCm39)	V63A	probably benign	Het
Clasp1	T	A	1: 118,390,257 (GRCm39)	I147N	possibly damaging	Het
Cmtm3	A	T	8: 105,067,358 (GRCm39)		probably benign	Het
Cmtm3	G	T	8: 105,067,359 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,293,364 (GRCm39)		probably null	Het
Csn3	A	G	5: 88,077,872 (GRCm39)	N126S	probably benign	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dctn1	T	A	6: 83,170,691 (GRCm39)	H729Q	possibly damaging	Het
Dop1a	C	T	9: 86,425,093 (GRCm39)	H2138Y	probably damaging	Het
Fbxo2	T	C	4: 148,248,616 (GRCm39)	L36P	unknown	Het
Gzmg	T	A	14: 56,395,812 (GRCm39)	Y49F	probably benign	Het
H2bc3	A	G	13: 23,930,940 (GRCm39)	I55V	possibly damaging	Het
Hivep1	A	G	13: 42,313,213 (GRCm39)	T1818A	probably benign	Het
Ipmk	T	C	10: 71,212,550 (GRCm39)	S171P	possibly damaging	Het
Milr1	T	A	11: 106,657,805 (GRCm39)	Y239N	probably damaging	Het
Muc16	T	C	9: 18,553,102 (GRCm39)	N4397S	probably benign	Het
Nell1	C	A	7: 49,712,387 (GRCm39)	S69*	probably null	Het
Nme8	A	G	13: 19,859,918 (GRCm39)	V234A	probably benign	Het
Notch2	A	G	3: 98,054,668 (GRCm39)	S2444G	probably damaging	Het
Odad3	T	A	9: 21,913,628 (GRCm39)	H48L	possibly damaging	Het
Or5p75-ps1	A	T	7: 108,108,155 (GRCm39)	K297N	unknown	Het
Or7g35	T	A	9: 19,495,968 (GRCm39)	I45K	probably damaging	Het
Pex5l	T	C	3: 33,136,401 (GRCm39)		probably benign	Het
Pgm3	A	T	9: 86,443,938 (GRCm39)	L322H	probably damaging	Het
Plxna2	T	A	1: 194,326,730 (GRCm39)	F221L	probably damaging	Het
Pramel22	T	A	4: 143,382,982 (GRCm39)	K79M	probably damaging	Het
R3hdml	A	G	2: 163,334,526 (GRCm39)	T39A	probably benign	Het
Ralgds	A	G	2: 28,435,184 (GRCm39)	M447V	probably benign	Het
Rgs2	T	C	1: 143,878,783 (GRCm39)	D40G	probably damaging	Het
Robo3	T	C	9: 37,329,789 (GRCm39)	M1176V	probably benign	Het
Rpap1	G	A	2: 119,613,519 (GRCm39)		probably benign	Het
Skic3	A	T	13: 76,278,447 (GRCm39)		probably benign	Het
Slc26a8	T	C	17: 28,857,560 (GRCm39)	D861G	possibly damaging	Het
Slc4a8	A	T	15: 100,698,469 (GRCm39)	I705F	probably benign	Het
Slco3a1	C	T	7: 73,946,996 (GRCm39)	V576I	probably damaging	Het
Socs7	A	G	11: 97,253,973 (GRCm39)	D169G	possibly damaging	Het
Tanc1	T	C	2: 59,637,933 (GRCm39)	V878A	probably benign	Het
Thop1	C	T	10: 80,916,001 (GRCm39)	R395W	probably damaging	Het
Tpp2	T	A	1: 44,017,897 (GRCm39)	H765Q	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r233	T	A	17: 21,214,069 (GRCm39)	M294L	possibly damaging	Het
Vmn1r27	T	C	6: 58,192,867 (GRCm39)	T46A	probably benign	Het
Vmn2r28	A	G	7: 5,483,747 (GRCm39)	S818P	probably damaging	Het
Vmn2r97	T	A	17: 19,149,333 (GRCm39)	N240K	probably benign	Het
Zfhx3	C	T	8: 109,430,850 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,321 (GRCm39)	M330V	probably benign	Het
Zhx1	T	C	15: 57,916,071 (GRCm39)	Y725C	probably damaging	Het
Zhx3	C	T	2: 160,624,020 (GRCm39)	S49N	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
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
R8326:Prkaa2	UTSW	4	104,893,495 (GRCm39)	missense	possibly damaging	0.67
R9051:Prkaa2	UTSW	4	104,906,600 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCACTGGAAATATGTTTGTGG -3'
(R):5'- AGTCTATAAGCCTCAGAAAGTGGG -3'

Sequencing Primer
(F):5'- AAATATGTTTGTGGTTAGTTCCTTCC -3'
(R):5'- GGTTATTTGTAGGCACACCA -3'

Posted On

2022-05-16