Mutagenetix > Incidental Mutation

Incidental Mutation 'R7444:Prkag3'

577134

Institutional Source

Beutler Lab

Gene Symbol

Prkag3

Ensembl Gene

ENSMUSG00000006542

Gene Name

protein kinase, AMP-activated, gamma 3 non-catalytic subunit

Synonyms

AMPKg3, AMPKg3S, AMPKg3L

MMRRC Submission

045520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74778081-74788380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74786425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000080342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000159728] [ENSMUST00000160732] [ENSMUST00000162093] [ENSMUST00000188073]

AlphaFold

Q8BGM7

Predicted Effect

probably benign
Transcript: ENSMUST00000081636
AA Change: D173E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART
CBS	283	332	7.57e-11	SMART
CBS	358	406	8.69e-11	SMART
CBS	430	478	3.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113672
AA Change: D148E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
AA Change: D148E

Domain	Start	End	E-Value	Type
low complexity region	38	52	N/A	INTRINSIC
CBS	177	226	2.66e-6	SMART
CBS	258	307	7.57e-11	SMART
CBS	333	381	8.69e-11	SMART
CBS	405	453	3.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159728

Predicted Effect

probably benign
Transcript: ENSMUST00000160732
AA Change: D173E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART
CBS	283	332	7.57e-11	SMART
CBS	358	406	8.69e-11	SMART
CBS	430	478	3.73e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162093
AA Change: D173E

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188073
AA Change: D173E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
CBS	202	251	2.66e-6	SMART
CBS	283	332	7.57e-11	SMART
CBS	358	406	8.69e-11	SMART
CBS	430	478	3.73e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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 regulatory 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. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired glycogen synthesis after exercise. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,984,787 (GRCm39)	M2024V	probably benign	Het
Ahnak2	T	A	12: 112,745,831 (GRCm39)	Q1673L		Het
Atic	G	T	1: 71,602,946 (GRCm39)	V107L	probably benign	Het
B2m	A	G	2: 121,981,416 (GRCm39)	N44D	probably damaging	Het
Bud13	A	G	9: 46,209,799 (GRCm39)	D636G	probably damaging	Het
Cenpk	T	C	13: 104,386,025 (GRCm39)	*307Q	probably null	Het
Cep68	A	G	11: 20,189,438 (GRCm39)	S525P	probably benign	Het
Clca3a1	A	G	3: 144,733,193 (GRCm39)	L105P	probably damaging	Het
Cntnap5a	A	T	1: 116,220,079 (GRCm39)	M630L	probably benign	Het
Cpb2	A	G	14: 75,520,782 (GRCm39)	Y399C	probably damaging	Het
Dars2	G	T	1: 160,874,454 (GRCm39)	P412T	possibly damaging	Het
E2f8	A	T	7: 48,517,927 (GRCm39)	I665N	probably damaging	Het
Epha4	A	T	1: 77,364,553 (GRCm39)	I652N	probably damaging	Het
Ermn	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	2: 57,938,079 (GRCm39)		probably benign	Het
Flrt3	T	C	2: 140,502,387 (GRCm39)	T414A	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fosb	T	C	7: 19,041,199 (GRCm39)	D98G	possibly damaging	Het
Gm5773	T	C	3: 93,680,850 (GRCm39)	L174S	probably damaging	Het
Hectd3	T	A	4: 116,854,124 (GRCm39)	V258E	possibly damaging	Het
Inf2	T	A	12: 112,571,821 (GRCm39)	W617R	unknown	Het
Irf7	T	A	7: 140,843,599 (GRCm39)	I358F	probably damaging	Het
Lipo3	A	G	19: 33,535,663 (GRCm39)		probably null	Het
Lrig2	A	T	3: 104,404,829 (GRCm39)	L93*	probably null	Het
Lzts1	C	T	8: 69,588,331 (GRCm39)	V542M	probably damaging	Het
Mefv	T	A	16: 3,533,386 (GRCm39)	H295L	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nat8f6	G	C	6: 85,786,112 (GRCm39)	S12R	probably benign	Het
Nipal4	G	T	11: 46,057,062 (GRCm39)	N14K	probably benign	Het
Nlrp4c	T	A	7: 6,095,595 (GRCm39)	C824*	probably null	Het
Npat	T	C	9: 53,460,210 (GRCm39)	S53P	probably damaging	Het
Nrxn3	A	G	12: 89,477,464 (GRCm39)	E549G	probably damaging	Het
Or10a5	T	C	7: 106,635,554 (GRCm39)	L64P	probably damaging	Het
Or12e8	T	A	2: 87,188,444 (GRCm39)	L219I	possibly damaging	Het
Or1r1	T	C	11: 73,874,576 (GRCm39)	N286S	probably damaging	Het
Or4a80	T	C	2: 89,583,103 (GRCm39)	K23R	probably benign	Het
Or4f62	A	T	2: 111,987,060 (GRCm39)	I255F	probably damaging	Het
Or5p55	T	A	7: 107,566,811 (GRCm39)	V69E	probably damaging	Het
Or6c6b	T	C	10: 129,147,559 (GRCm39)	M61T	probably benign	Het
Or6z6	C	A	7: 6,490,919 (GRCm39)	W311L	probably benign	Het
Pcdhb11	T	A	18: 37,555,672 (GRCm39)	I334K	probably damaging	Het
Pcdhb4	T	C	18: 37,442,505 (GRCm39)	L605P	probably damaging	Het
Pced1a	G	T	2: 130,263,979 (GRCm39)	H224Q	probably damaging	Het
Pde6b	C	A	5: 108,575,008 (GRCm39)	S623*	probably null	Het
Pgr	T	C	9: 8,946,883 (GRCm39)	L708P	probably damaging	Het
Pnpla1	T	C	17: 29,097,455 (GRCm39)	I207T	possibly damaging	Het
Prrt4	A	G	6: 29,176,516 (GRCm39)	F270L	probably benign	Het
Ptdss2	C	A	7: 140,732,997 (GRCm39)	P260Q	possibly damaging	Het
Rftn1	T	A	17: 50,354,435 (GRCm39)	N309I	probably damaging	Het
Rgs12	T	C	5: 35,183,287 (GRCm39)	V978A	possibly damaging	Het
Rnf111	T	C	9: 70,348,125 (GRCm39)	Y816C	probably damaging	Het
Rnf208	C	T	2: 25,133,326 (GRCm39)	P7S	probably damaging	Het
Rnf24	T	C	2: 131,155,215 (GRCm39)	D4G	probably damaging	Het
Ryr2	T	A	13: 11,570,349 (GRCm39)	I4925L	probably benign	Het
S1pr5	A	T	9: 21,156,378 (GRCm39)	V16D	possibly damaging	Het
Scgb1b24	A	G	7: 33,443,566 (GRCm39)	D75G	possibly damaging	Het
Setdb2	A	T	14: 59,660,794 (GRCm39)	C116*	probably null	Het
Sh3rf2	G	A	18: 42,234,604 (GRCm39)	R129Q	probably damaging	Het
Spata31d1d	C	T	13: 59,875,007 (GRCm39)	V843I	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Tecrl	T	A	5: 83,502,915 (GRCm39)		probably benign	Het
Tex15	T	A	8: 34,066,590 (GRCm39)	S2007T	possibly damaging	Het
Tomm7	C	A	5: 24,049,155 (GRCm39)		probably benign	Het
Trpv1	A	C	11: 73,135,030 (GRCm39)	N409T	possibly damaging	Het
Try5	T	A	6: 41,288,299 (GRCm39)	Y218F	probably benign	Het
Tspan5	A	T	3: 138,603,883 (GRCm39)	I196F	possibly damaging	Het
Wdhd1	A	T	14: 47,489,405 (GRCm39)	C709*	probably null	Het

Other mutations in Prkag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Prkag3	APN	1	74,787,971 (GRCm39)	splice site	probably benign
IGL02139:Prkag3	APN	1	74,779,883 (GRCm39)	missense	probably benign	0.14
P0023:Prkag3	UTSW	1	74,779,898 (GRCm39)	missense	probably damaging	1.00
R0002:Prkag3	UTSW	1	74,783,947 (GRCm39)	missense	probably damaging	1.00
R0002:Prkag3	UTSW	1	74,783,947 (GRCm39)	missense	probably damaging	1.00
R0256:Prkag3	UTSW	1	74,780,330 (GRCm39)	missense	probably benign	0.01
R0547:Prkag3	UTSW	1	74,783,879 (GRCm39)	critical splice donor site	probably null
R1314:Prkag3	UTSW	1	74,786,343 (GRCm39)	missense	probably damaging	1.00
R1484:Prkag3	UTSW	1	74,779,919 (GRCm39)	missense	probably damaging	1.00
R2842:Prkag3	UTSW	1	74,780,334 (GRCm39)	missense	probably benign	0.30
R4739:Prkag3	UTSW	1	74,779,864 (GRCm39)	makesense	probably null
R5159:Prkag3	UTSW	1	74,780,646 (GRCm39)	missense	probably damaging	1.00
R5876:Prkag3	UTSW	1	74,787,975 (GRCm39)	critical splice donor site	probably benign
R5989:Prkag3	UTSW	1	74,780,433 (GRCm39)	missense	probably benign	0.00
R7553:Prkag3	UTSW	1	74,783,894 (GRCm39)	missense	probably damaging	1.00
R7630:Prkag3	UTSW	1	74,783,894 (GRCm39)	missense	probably damaging	1.00
R7922:Prkag3	UTSW	1	74,780,416 (GRCm39)	missense	probably benign	0.10
R7974:Prkag3	UTSW	1	74,783,980 (GRCm39)	missense	probably benign	0.14
R7994:Prkag3	UTSW	1	74,786,414 (GRCm39)	missense	probably benign
R8084:Prkag3	UTSW	1	74,786,366 (GRCm39)	missense	probably damaging	1.00
R8115:Prkag3	UTSW	1	74,787,118 (GRCm39)	missense	possibly damaging	0.49
R8387:Prkag3	UTSW	1	74,784,854 (GRCm39)	critical splice donor site	probably null
R9015:Prkag3	UTSW	1	74,780,353 (GRCm39)	missense	probably benign	0.05
R9489:Prkag3	UTSW	1	74,786,378 (GRCm39)	missense	probably damaging	1.00
R9576:Prkag3	UTSW	1	74,787,082 (GRCm39)	missense
R9605:Prkag3	UTSW	1	74,786,378 (GRCm39)	missense	probably damaging	1.00
Z1177:Prkag3	UTSW	1	74,787,184 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGACTTTCAGACAACCTG -3'
(R):5'- AAGCTGTTCCCTTGGCTGAAG -3'

Sequencing Primer
(F):5'- CCTGACAAGGCATCCAGGAG -3'
(R):5'- TTGGCTGAAGCGGAGACCTC -3'

Posted On

2019-10-07