Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Prkag3'

163275

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

039537-MU

Accession Numbers

Essential gene?

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

Stock #

R1484 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

74778081-74788380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74779919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 472 (D472V)

Ref Sequence

ENSEMBL: ENSMUSP00000139909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027356] [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000160732] [ENSMUST00000162093] [ENSMUST00000188073]

AlphaFold

Q8BGM7

Predicted Effect

probably benign
Transcript: ENSMUST00000027356

SMART Domains

Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170

Domain	Start	End	E-Value	Type
Pfam:p450	63	529	5.1e-107	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000081636
AA Change: D472V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
AA Change: D472V

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 damaging
Transcript: ENSMUST00000113672
AA Change: D447V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
AA Change: D447V

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 damaging
Transcript: ENSMUST00000160732
AA Change: D472V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
AA Change: D472V

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

SMART Domains

Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188073
AA Change: D472V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
AA Change: D472V

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

noncoding transcript
Transcript: ENSMUST00000189083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190781

Meta Mutation Damage Score

0.9434

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	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
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
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'- GCAAATGGATGTCTTGCCTCCACC -3'
(R):5'- GAGATGCCCTTTTCTCCTTGAGCTG -3'

Sequencing Primer
(F):5'- GTGCAATTATGACTGGCACC -3'
(R):5'- TCTCCTTGAGCTGTGTTAAGC -3'

Posted On

2014-03-28