Mutagenetix > Incidental Mutations

Incidental Mutation 'R7090:Prkaa1'

550172

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5143861-5181899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5177130 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 454 (T454A)

Ref Sequence

ENSEMBL: ENSMUSP00000063166 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051186
AA Change: T454A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: T454A

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

probably benign
Transcript: ENSMUST00000228218
AA Change: T445A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm3	A	T	7: 16,917,079	Y139*	probably null	Het
Ccdc27	T	C	4: 154,028,066	N584S	probably benign	Het
Cdh24	C	G	14: 54,639,507	G13A	probably damaging	Het
Chd8	T	C	14: 52,215,220	K1281E	probably damaging	Het
Clasp1	G	T	1: 118,482,086	G4C	probably benign	Het
Cul9	G	T	17: 46,500,839	P2488T	probably damaging	Het
Daam2	A	G	17: 49,482,945	V428A	probably damaging	Het
Dcaf8	A	G	1: 172,188,968	S441G	probably damaging	Het
Dchs2	A	G	3: 83,348,274	T2426A	probably benign	Het
Dpys	A	G	15: 39,826,883	V358A	probably damaging	Het
Efhd1	A	G	1: 87,289,497	D112G	probably damaging	Het
Exoc1	T	C	5: 76,566,953	S120P	unknown	Het
Fyco1	A	G	9: 123,797,719	L1309S	probably damaging	Het
Gm14403	A	G	2: 177,509,321	N111S	possibly damaging	Het
Gm5901	A	G	7: 105,377,348	T108A	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itgb5	T	G	16: 33,885,094	D251E	probably damaging	Het
Kcnk15	T	C	2: 163,858,717	V292A	probably benign	Het
Kdm2a	A	T	19: 4,319,141	Y1149N	probably damaging	Het
Kdm3a	T	C	6: 71,595,545	T1011A	possibly damaging	Het
Krt35	A	T	11: 100,095,672		probably null	Het
Lipn	T	A	19: 34,071,780	D115E	possibly damaging	Het
Lpin3	T	G	2: 160,896,752	L208R	probably damaging	Het
Ltf	C	A	9: 111,025,980	Q354K	probably benign	Het
Marf1	C	A	16: 14,111,702	C1680F	possibly damaging	Het
Mtss1l	T	A	8: 110,730,024	V242E	probably damaging	Het
Myo7b	T	C	18: 31,998,712	Y477C	probably damaging	Het
Nbn	T	A	4: 15,981,350	S481T	probably benign	Het
Ncoa2	A	G	1: 13,186,838	Y146H	probably damaging	Het
Ntng1	A	T	3: 109,935,180	C92*	probably null	Het
Olfr1049	T	A	2: 86,255,076	N206Y	probably damaging	Het
Olfr1077-ps1	T	C	2: 86,526,127	I17V	probably benign	Het
Olfr133	G	A	17: 38,149,494	G302D	probably benign	Het
Olfr286	C	T	15: 98,227,202	V150I	probably benign	Het
Os9	A	T	10: 127,099,678	S308T	probably benign	Het
Otx2	T	A	14: 48,658,735	T289S	probably benign	Het
Palm2	C	T	4: 57,648,042	A60V	probably benign	Het
Pigg	A	G	5: 108,336,512	T675A	possibly damaging	Het
Pink1	C	T	4: 138,315,601	E461K	probably damaging	Het
Pip5k1a	A	G	3: 95,060,498	S543P	possibly damaging	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rab31	C	T	17: 65,698,017	V83I	possibly damaging	Het
Rabggtb	G	T	3: 153,910,349	D117E	probably benign	Het
Rbl1	T	C	2: 157,152,900	H951R	probably benign	Het
Sapcd2	A	G	2: 25,376,079	S314G	probably benign	Het
Sept4	T	C	11: 87,584,438	L164P	probably damaging	Het
Shroom1	A	G	11: 53,465,933	E541G	probably damaging	Het
Slc26a7	C	A	4: 14,565,460	G208*	probably null	Het
Smco2	A	G	6: 146,871,213	I304M	probably damaging	Het
Spg7	T	C	8: 123,091,752		probably null	Het
Spocd1	T	C	4: 129,953,898	F552L		Het
St6galnac2	T	C	11: 116,677,635	D334G	probably damaging	Het
Sub1	A	G	15: 11,986,486	S92P	probably benign	Het
Syne2	T	C	12: 75,942,351	F1829L	probably benign	Het
Tdrd1	T	C	19: 56,851,401	V631A	probably benign	Het
Tdrd9	T	C	12: 111,992,470	S113P	probably benign	Het
Tgfbrap1	A	C	1: 43,071,565	V260G	probably damaging	Het
Tyw3	G	C	3: 154,593,789	S94R	probably benign	Het
Urb2	T	C	8: 124,030,599	V1015A	probably benign	Het
Usp5	A	G	6: 124,829,394	M1T	probably null	Het
Utrn	T	C	10: 12,684,516	D1343G	possibly damaging	Het
Vmn2r56	T	C	7: 12,715,327	Y328C	probably damaging	Het
Vmn2r99	A	T	17: 19,393,710	E564V	possibly damaging	Het
Wdr63	C	A	3: 146,040,827	K881N	possibly damaging	Het
Zc3h8	T	C	2: 128,935,321	T133A	possibly damaging	Het

Other mutations in Prkaa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Prkaa1	APN	15	5174318	missense	probably damaging	1.00
IGL01797:Prkaa1	APN	15	5168706	missense	probably damaging	1.00
IGL02442:Prkaa1	APN	15	5176888	missense	probably damaging	1.00
IGL02890:Prkaa1	APN	15	5177086	missense	possibly damaging	0.91
IGL03146:Prkaa1	APN	15	5168641	missense	probably damaging	0.99
IGL03396:Prkaa1	APN	15	5176650	missense	probably damaging	1.00
pressor	UTSW	15	5176956	missense	probably damaging	1.00
R1439:Prkaa1	UTSW	15	5164744	missense	probably damaging	0.99
R1466:Prkaa1	UTSW	15	5178798	missense	probably benign
R1466:Prkaa1	UTSW	15	5178798	missense	probably benign
R1804:Prkaa1	UTSW	15	5178778	missense	probably benign	0.41
R1807:Prkaa1	UTSW	15	5143954	missense	probably damaging	1.00
R4381:Prkaa1	UTSW	15	5176808	missense	probably benign
R4398:Prkaa1	UTSW	15	5177161	missense	possibly damaging	0.58
R4579:Prkaa1	UTSW	15	5160601	critical splice acceptor site	probably null
R4689:Prkaa1	UTSW	15	5178696	missense	probably benign
R4832:Prkaa1	UTSW	15	5160620	missense	probably damaging	0.96
R4874:Prkaa1	UTSW	15	5174357	missense	probably benign	0.16
R4876:Prkaa1	UTSW	15	5174405	missense	probably benign	0.44
R5074:Prkaa1	UTSW	15	5176911	missense	possibly damaging	0.82
R5260:Prkaa1	UTSW	15	5160668	missense	probably damaging	1.00
R5563:Prkaa1	UTSW	15	5169956	missense	probably damaging	1.00
R5706:Prkaa1	UTSW	15	5174342	missense	probably benign	0.01
R6363:Prkaa1	UTSW	15	5176956	missense	probably damaging	1.00
R6825:Prkaa1	UTSW	15	5143950	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGTAGAGCAATCAAGCAGTTGG -3'
(R):5'- AGGCGCCATATGAAGCTTACTAC -3'

Sequencing Primer
(F):5'- AGCAATCAAGCAGTTGGATTATG -3'
(R):5'- GCGCCATATGAAGCTTACTACTTTGC -3'

Posted On

2019-05-15