Mutagenetix > Incidental Mutation

Incidental Mutation 'R6825:Prkaa1'

534125

Institutional Source

Beutler Lab

Gene Symbol

Prkaa1

Ensembl Gene

ENSMUSG00000050697

Gene Name

protein kinase, AMP-activated, alpha 1 catalytic subunit

Synonyms

C130083N04Rik, AMPKalpha1

MMRRC Submission

044937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6825 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

5173343-5211380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5173432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 19 (I19F)

Ref Sequence

ENSEMBL: ENSMUSP00000154562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]

AlphaFold

Q5EG47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051186
AA Change: I28F

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: I28F

Domain	Start	End	E-Value	Type
S_TKc	27	279	2.23e-103	SMART
low complexity region	305	318	N/A	INTRINSIC
Pfam:AdenylateSensor	406	503	1.3e-15	PFAM
low complexity region	516	535	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228218
AA Change: I19F

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, splenomegaly, increased erythrocyte turnover, and elevated plasma erythropoietin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,954,654 (GRCm39)	S206T	probably benign	Het
Aasdh	A	T	5: 77,036,696 (GRCm39)		probably null	Het
Adam10	G	T	9: 70,668,884 (GRCm39)	C400F	probably damaging	Het
Ankle2	A	T	5: 110,398,635 (GRCm39)	R561S	probably null	Het
Arhgef5	C	T	6: 43,251,895 (GRCm39)	T882I	probably damaging	Het
Arpc1a	A	T	5: 145,032,936 (GRCm39)	K82*	probably null	Het
Card11	C	A	5: 140,863,837 (GRCm39)	R967L	probably benign	Het
Ccdc82	G	T	9: 13,251,601 (GRCm39)		probably benign	Het
Cebpz	T	C	17: 79,227,392 (GRCm39)	D1026G	probably damaging	Het
Cit	A	T	5: 116,119,833 (GRCm39)	Q1321L	probably damaging	Het
Clcn2	C	A	16: 20,528,408 (GRCm39)		probably benign	Het
Csf3	G	C	11: 98,593,273 (GRCm39)	G130A	probably damaging	Het
Cul2	T	A	18: 3,434,946 (GRCm39)	S737T	probably damaging	Het
Cyp1a2	G	A	9: 57,584,543 (GRCm39)	H504Y	probably benign	Het
Cyp3a44	G	A	5: 145,716,396 (GRCm39)	P398L	probably damaging	Het
Dnah8	T	C	17: 30,960,147 (GRCm39)	I2206T	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Epb41l5	A	T	1: 119,547,931 (GRCm39)	D157E	possibly damaging	Het
Ercc8	T	C	13: 108,295,343 (GRCm39)	S6P	probably damaging	Het
Faxc	T	C	4: 21,931,672 (GRCm39)	S37P	probably benign	Het
Fbxl19	T	A	7: 127,349,187 (GRCm39)	I119K	probably damaging	Het
Frmd4b	A	G	6: 97,302,437 (GRCm39)	V195A	possibly damaging	Het
Fut9	A	T	4: 25,619,925 (GRCm39)	S296R	probably benign	Het
Gas6	T	C	8: 13,533,674 (GRCm39)	N112D	probably benign	Het
H2-Q1	T	C	17: 35,540,028 (GRCm39)	L99P	probably damaging	Het
Helq	A	T	5: 100,940,561 (GRCm39)	I346N	probably damaging	Het
Hepacam	A	G	9: 37,278,976 (GRCm39)	K2E	possibly damaging	Het
Itgae	T	C	11: 73,009,322 (GRCm39)	M502T	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,277,015 (GRCm39)		probably null	Het
Mgat4a	T	A	1: 37,503,515 (GRCm39)	K220*	probably null	Het
Or2t43	T	C	11: 58,457,476 (GRCm39)	R232G	possibly damaging	Het
Or4c104	T	C	2: 88,586,255 (GRCm39)	I255V	possibly damaging	Het
Or5b3	G	A	19: 13,388,514 (GRCm39)	V194I	probably benign	Het
Pex5	A	T	6: 124,391,340 (GRCm39)	M18K	probably damaging	Het
Phlda3	T	C	1: 135,694,562 (GRCm39)	*126Q	probably null	Het
Plxna1	G	T	6: 89,297,597 (GRCm39)	D1862E	probably benign	Het
Pold4	A	T	19: 4,282,164 (GRCm39)	I7F	possibly damaging	Het
Prl7d1	T	G	13: 27,894,125 (GRCm39)	E148A	probably benign	Het
Prr14l	A	T	5: 32,985,892 (GRCm39)	V1201E	possibly damaging	Het
Rab3gap1	T	C	1: 127,858,158 (GRCm39)	C510R	probably damaging	Het
Rhbdf1	C	T	11: 32,159,970 (GRCm39)	R802H	probably damaging	Het
Rpl18a	A	C	8: 71,348,836 (GRCm39)	F47V	probably damaging	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,442,459 (GRCm39)	G1985R	probably benign	Het
Tcaf2	C	T	6: 42,606,452 (GRCm39)	A501T	probably benign	Het
Tcerg1	A	G	18: 42,681,542 (GRCm39)	D563G	probably damaging	Het
Tdh	G	A	14: 63,733,281 (GRCm39)	T155M	probably damaging	Het
Tenm2	T	C	11: 35,937,711 (GRCm39)	N1654S	probably benign	Het
Tlr5	A	T	1: 182,800,609 (GRCm39)		probably benign	Het
Tns1	G	T	1: 74,041,482 (GRCm39)	C136*	probably null	Het
Tomm5	A	T	4: 45,106,443 (GRCm39)		probably null	Het
Trio	A	T	15: 27,889,394 (GRCm39)	F512I	probably damaging	Het
Ttll5	A	T	12: 85,930,102 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,081,707 (GRCm39)	H81Q	probably benign	Het
Usp42	A	G	5: 143,713,562 (GRCm39)	S71P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Zap70	A	G	1: 36,817,471 (GRCm39)	Y238C	probably damaging	Het
Zfp398	A	G	6: 47,843,265 (GRCm39)	D307G	probably damaging	Het

Other mutations in Prkaa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Prkaa1	APN	15	5,203,799 (GRCm39)	missense	probably damaging	1.00
IGL01797:Prkaa1	APN	15	5,198,187 (GRCm39)	missense	probably damaging	1.00
IGL02442:Prkaa1	APN	15	5,206,369 (GRCm39)	missense	probably damaging	1.00
IGL02890:Prkaa1	APN	15	5,206,567 (GRCm39)	missense	possibly damaging	0.91
IGL03146:Prkaa1	APN	15	5,198,122 (GRCm39)	missense	probably damaging	0.99
IGL03396:Prkaa1	APN	15	5,206,131 (GRCm39)	missense	probably damaging	1.00
pressor	UTSW	15	5,206,437 (GRCm39)	missense	probably damaging	1.00
R1439:Prkaa1	UTSW	15	5,194,225 (GRCm39)	missense	probably damaging	0.99
R1466:Prkaa1	UTSW	15	5,208,279 (GRCm39)	missense	probably benign
R1466:Prkaa1	UTSW	15	5,208,279 (GRCm39)	missense	probably benign
R1804:Prkaa1	UTSW	15	5,208,259 (GRCm39)	missense	probably benign	0.41
R1807:Prkaa1	UTSW	15	5,173,436 (GRCm39)	missense	probably damaging	1.00
R4381:Prkaa1	UTSW	15	5,206,289 (GRCm39)	missense	probably benign
R4398:Prkaa1	UTSW	15	5,206,642 (GRCm39)	missense	possibly damaging	0.58
R4579:Prkaa1	UTSW	15	5,190,082 (GRCm39)	critical splice acceptor site	probably null
R4689:Prkaa1	UTSW	15	5,208,177 (GRCm39)	missense	probably benign
R4832:Prkaa1	UTSW	15	5,190,101 (GRCm39)	missense	probably damaging	0.96
R4874:Prkaa1	UTSW	15	5,203,838 (GRCm39)	missense	probably benign	0.16
R4876:Prkaa1	UTSW	15	5,203,886 (GRCm39)	missense	probably benign	0.44
R5074:Prkaa1	UTSW	15	5,206,392 (GRCm39)	missense	possibly damaging	0.82
R5260:Prkaa1	UTSW	15	5,190,149 (GRCm39)	missense	probably damaging	1.00
R5563:Prkaa1	UTSW	15	5,199,437 (GRCm39)	missense	probably damaging	1.00
R5706:Prkaa1	UTSW	15	5,203,823 (GRCm39)	missense	probably benign	0.01
R6363:Prkaa1	UTSW	15	5,206,437 (GRCm39)	missense	probably damaging	1.00
R7090:Prkaa1	UTSW	15	5,206,611 (GRCm39)	missense	probably benign
R7921:Prkaa1	UTSW	15	5,206,632 (GRCm39)	missense	probably damaging	1.00
R7989:Prkaa1	UTSW	15	5,206,166 (GRCm39)	missense	probably damaging	1.00
R8289:Prkaa1	UTSW	15	5,206,563 (GRCm39)	missense	possibly damaging	0.88
R8314:Prkaa1	UTSW	15	5,208,354 (GRCm39)	missense	probably damaging	0.98
R9183:Prkaa1	UTSW	15	5,205,969 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAAGCAAGCATCGTCCTCCTG -3'
(R):5'- AAGTTGCACCCAGAGCCATC -3'

Sequencing Primer
(F):5'- TCCTCCTGGGAATTACGGG -3'
(R):5'- GACCCCACAGCTCTGCAG -3'

Posted On

2018-09-12