Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Prkag3'

722261

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

Accession Numbers

Essential gene?

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

Stock #

R9576 (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 74787082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 59 (W59R)

Ref Sequence

ENSEMBL: ENSMUSP00000080342 (fasta)

Gene Model

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

AlphaFold

Q8BGM7

Predicted Effect

SMART Domains

Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
AA Change: W59R

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: W34R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
AA Change: W34R

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: W59R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
AA Change: W59R

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

possibly damaging
Transcript: ENSMUST00000162093
AA Change: W59R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542
AA Change: W59R

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: W59R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
AA Change: W59R

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: 99.9%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Aars1	T	A	8: 111,768,296 (GRCm39)	Y222*	probably null	Het
Abi2	G	T	1: 60,449,008 (GRCm39)	R16L	possibly damaging	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Adgrv1	T	C	13: 81,691,608 (GRCm39)	T1660A	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arhgap26	T	A	18: 39,253,207 (GRCm39)	Y211*	probably null	Het
Ascc3	T	C	10: 50,494,254 (GRCm39)	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,030,436 (GRCm39)	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,407,544 (GRCm39)	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,658,338 (GRCm39)	T241A		Het
Chd9	T	A	8: 91,659,294 (GRCm39)	S85T	unknown	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Crygb	T	C	1: 65,119,686 (GRCm39)	D98G	probably benign	Het
Ctbp2	A	T	7: 132,616,198 (GRCm39)	S246T	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Dpp10	A	G	1: 123,269,409 (GRCm39)	S667P	probably damaging	Het
Epha7	G	A	4: 28,870,659 (GRCm39)	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Glp2r	T	C	11: 67,655,622 (GRCm39)	K40R	probably benign	Het
H2-Q5	G	A	17: 35,613,413 (GRCm39)	V49M		Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hc	T	A	2: 34,873,767 (GRCm39)	T1656S	probably benign	Het
Hfm1	A	T	5: 107,021,938 (GRCm39)	I999N	probably benign	Het
Hoxc4	A	T	15: 102,944,384 (GRCm39)	E254V	probably benign	Het
Il5ra	T	C	6: 106,712,688 (GRCm39)	N275S	probably damaging	Het
Itfg2	C	A	6: 128,389,950 (GRCm39)	A272S	probably benign	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Jakmip3	A	G	7: 138,621,988 (GRCm39)	E296G	probably damaging	Het
Jchain	T	G	5: 88,673,976 (GRCm39)	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,944,307 (GRCm39)	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Klk1b4	A	T	7: 43,860,477 (GRCm39)	D165V	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo18a	T	A	11: 77,709,827 (GRCm39)	I607N	probably damaging	Het
Nefh	C	T	11: 4,891,222 (GRCm39)	E466K	possibly damaging	Het
Nudc	T	C	4: 133,262,989 (GRCm39)	E118G	probably benign	Het
Or2aj6	A	T	16: 19,442,961 (GRCm39)	D296E	probably damaging	Het
Or56a3	T	C	7: 104,735,760 (GRCm39)	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Plekha7	T	C	7: 115,728,669 (GRCm39)	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Skap1	T	C	11: 96,472,030 (GRCm39)	F101S	probably benign	Het
Slc16a8	T	A	15: 79,136,182 (GRCm39)	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,578,004 (GRCm39)	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,556,235 (GRCm39)	D47A	probably benign	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,742,367 (GRCm39)	M387V	probably benign	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,946,822 (GRCm39)	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,511,335 (GRCm39)	G385W	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Usp13	A	T	3: 32,969,135 (GRCm39)		probably null	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn2r50	T	C	7: 9,771,190 (GRCm39)	Q837R	probably benign	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	probably benign	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
R7444:Prkag3	UTSW	1	74,786,425 (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
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'- CAACTCTGTTCCATCCCAAGG -3'
(R):5'- GGCTCAGTAATGACATGGGAC -3'

Sequencing Primer
(F):5'- ACCCTGGGTCATCACATAGTTATTG -3'
(R):5'- CAGTAATGACATGGGACTTGGTTTTG -3'

Posted On

2022-08-09