Mutagenetix > Incidental Mutation

Incidental Mutation 'R1804:Prkaa1'

203409

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

039834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5173343-5211380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5208259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 509 (D509G)

Ref Sequence

ENSEMBL: ENSMUSP00000063166 (fasta)

Gene Model

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

AlphaFold

Q5EG47

Predicted Effect

probably benign
Transcript: ENSMUST00000051186
AA Change: D509G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: D509G

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

noncoding transcript
Transcript: ENSMUST00000150079

Predicted Effect

probably benign
Transcript: ENSMUST00000228218
AA Change: D500G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0742

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,400 (GRCm39)	Y220H	probably benign	Het
4930579C12Rik	T	C	9: 89,034,113 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,769,903 (GRCm39)	S871G	probably benign	Het
Acly	T	C	11: 100,406,731 (GRCm39)	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,401,389 (GRCm39)	D128E	probably damaging	Het
Alms1	C	T	6: 85,598,257 (GRCm39)	Q1497*	probably null	Het
Bltp2	A	G	11: 78,164,295 (GRCm39)	H1165R	probably damaging	Het
Cacna1c	G	A	6: 118,664,007 (GRCm39)	T688M	probably damaging	Het
Ccdc7a	A	T	8: 129,715,247 (GRCm39)	L279*	probably null	Het
Cep135	A	G	5: 76,784,779 (GRCm39)	E958G	probably benign	Het
Clec4n	G	T	6: 123,206,981 (GRCm39)	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612 (GRCm39)		probably null	Het
Dcaf5	A	G	12: 80,386,603 (GRCm39)	S508P	probably benign	Het
Dlgap2	C	A	8: 14,777,809 (GRCm39)	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,927,381 (GRCm39)	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,037,303 (GRCm39)	V322A	probably damaging	Het
Ebf3	A	C	7: 136,802,250 (GRCm39)	L412V	possibly damaging	Het
Epha5	T	C	5: 84,479,674 (GRCm39)	N110S	probably benign	Het
Fcgbp	T	C	7: 27,785,564 (GRCm39)	C334R	probably benign	Het
Glp1r	T	A	17: 31,149,687 (GRCm39)		probably null	Het
Gm4952	G	T	19: 12,595,784 (GRCm39)	R58L	probably damaging	Het
Gm7579	G	A	7: 141,765,675 (GRCm39)	C27Y	unknown	Het
Golm1	T	A	13: 59,790,203 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,198,741 (GRCm39)	I801F	probably benign	Het
H2-D1	T	C	17: 35,482,528 (GRCm39)	Y83H	probably damaging	Het
Homez	A	T	14: 55,094,598 (GRCm39)	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,179,628 (GRCm39)	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,311,051 (GRCm39)	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,866,913 (GRCm39)	N668K	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klb	A	G	5: 65,537,196 (GRCm39)	D842G	probably damaging	Het
Minar1	T	A	9: 89,485,152 (GRCm39)	M82L	possibly damaging	Het
Mmp21	G	T	7: 133,280,611 (GRCm39)	P120T	probably benign	Het
Mroh7	T	A	4: 106,551,589 (GRCm39)	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,417,517 (GRCm39)	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,356,145 (GRCm39)	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,288,565 (GRCm39)	Y214C	probably damaging	Het
Or2q1	G	A	6: 42,795,155 (GRCm39)	C250Y	possibly damaging	Het
Or4k15c	A	T	14: 50,321,359 (GRCm39)	W260R	probably damaging	Het
Or4k35	T	C	2: 111,100,275 (GRCm39)	M146V	probably benign	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or8d23	A	G	9: 38,841,946 (GRCm39)	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,894,883 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,511,041 (GRCm39)	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,202,566 (GRCm39)	K492E	probably damaging	Het
Rims2	C	T	15: 39,300,439 (GRCm39)	Q57*	probably null	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rraga	A	G	4: 86,494,681 (GRCm39)	I176V	probably damaging	Het
Rrm2	T	C	12: 24,758,611 (GRCm39)	I51T	probably benign	Het
Serpina3a	T	A	12: 104,084,675 (GRCm39)		probably benign	Het
Skint7	T	C	4: 111,839,209 (GRCm39)	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,701,279 (GRCm39)	M357V	probably benign	Het
Slc4a3	A	G	1: 75,528,361 (GRCm39)	H452R	probably damaging	Het
Smc1b	A	T	15: 85,011,991 (GRCm39)	I127K	possibly damaging	Het
Snap91	T	A	9: 86,665,470 (GRCm39)	M383L	probably benign	Het
Taf6l	A	T	19: 8,750,998 (GRCm39)	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,732,488 (GRCm39)	I266V	probably benign	Het
Tesk2	T	C	4: 116,657,818 (GRCm39)		probably benign	Het
Tmem131l	T	G	3: 83,817,786 (GRCm39)	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Tnfaip8	T	A	18: 50,223,728 (GRCm39)	C179S	probably damaging	Het
Ush2a	G	A	1: 188,365,926 (GRCm39)		probably null	Het
Vps13b	A	T	15: 35,917,283 (GRCm39)	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,998,511 (GRCm39)	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,047,012 (GRCm39)		probably benign	Het
Zfp438	A	G	18: 5,213,689 (GRCm39)	I423T	probably damaging	Het
Zfp592	C	A	7: 80,673,443 (GRCm39)	P136T	probably damaging	Het
Zfp783	T	A	6: 47,922,819 (GRCm39)		noncoding transcript	Het
Zfp804b	A	T	5: 6,821,756 (GRCm39)	S400T	possibly 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
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
R6825:Prkaa1	UTSW	15	5,173,432 (GRCm39)	missense	possibly damaging	0.91
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'- AAACCAGTGTGCTTTGGAGAAC -3'
(R):5'- AACTTGGTAAGTGGAAGTATTTGGC -3'

Sequencing Primer
(F):5'- GGAGAACTGGTTAGTAGTCTCAC -3'
(R):5'- TGACTTCCTGGTCTTGGA -3'

Posted On

2014-06-23