Mutagenetix > Incidental Mutation

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

AMPKalpha2, 2310008I11Rik

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0004 (G1)

Quality Score

199

Status

Validated (trace)

Chromosome

Chromosomal Location

104887071-104967087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104904288 bp (GRCm39)

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]

AlphaFold

Q8BRK8

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: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Or51k1	A	T	7: 103,661,638 (GRCm39)	N90K	probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	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
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

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