Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Prkag3'

359478

Institutional Source

Beutler Lab

Gene Symbol

Prkag3

Ensembl Gene

ENSMUSG00000006542

Gene Name

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

Synonyms

AMPKg3L, AMPKg3, AMPKg3S

MMRRC Submission

042025-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74738922-74749221 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 74740705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 490 (*490W)

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 null
Transcript: ENSMUST00000081636
AA Change: *490W

SMART Domains

Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
AA Change: *490W

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 null
Transcript: ENSMUST00000113672
AA Change: *465W

SMART Domains

Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
AA Change: *465W

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 null
Transcript: ENSMUST00000160732
AA Change: *490W

SMART Domains

Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
AA Change: *490W

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 null
Transcript: ENSMUST00000188073
AA Change: *490W

SMART Domains

Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
AA Change: *490W

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

96% (102/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	T	1: 158,969,334		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,567,506		probably benign	Het
Aadat	T	C	8: 60,540,106	V360A	probably benign	Het
Abcc5	T	A	16: 20,399,626	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,812,020	K155N	probably damaging	Het
Acot3	T	C	12: 84,058,590	I277T	probably benign	Het
Ankrd45	G	A	1: 161,155,390	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,697,999	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,982,845	N677T	probably benign	Het
Atg13	A	G	2: 91,684,695	S254P	probably damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Avl9	T	A	6: 56,726,309	V120D	probably damaging	Het
Cc2d1b	T	C	4: 108,628,042	V527A	probably benign	Het
Ccnl1	A	G	3: 65,946,671		probably benign	Het
Cenpl	T	A	1: 161,083,267	D261E	probably damaging	Het
Cep192	T	G	18: 67,851,732	I1604M	probably benign	Het
Cep95	A	G	11: 106,815,734	I573V	probably benign	Het
Cfap100	A	G	6: 90,412,843		probably null	Het
Cmc1	T	A	9: 118,075,177	M49L	probably benign	Het
Cyfip2	G	T	11: 46,279,993	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,356,675	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,196,036	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,460,976	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,207,777	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,533,339	L119Q	probably damaging	Het
Dnah3	T	C	7: 120,077,946	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,275,189	N432Y	possibly damaging	Het
Dst	T	A	1: 34,191,147	I2785N	probably benign	Het
Dynap	A	T	18: 70,241,225	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 138,183,199	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 138,198,097	S1584T	probably benign	Het
Enpp1	A	T	10: 24,679,248	C67S	probably null	Het
Enpp5	C	T	17: 44,081,136	T152I	probably damaging	Het
Erbb4	T	C	1: 68,343,900	M313V	probably damaging	Het
Erc2	T	G	14: 27,776,881	L238R	probably damaging	Het
Eya3	T	A	4: 132,721,387		probably benign	Het
Farp1	T	C	14: 121,238,787	F339L	probably damaging	Het
Fsip2	A	C	2: 82,975,353	D672A	possibly damaging	Het
Gap43	G	T	16: 42,292,218	P60Q	probably benign	Het
Gatsl3	A	G	11: 4,219,004	E57G	possibly damaging	Het
Gpr37l1	T	A	1: 135,167,045	I154F	probably damaging	Het
Greb1	A	G	12: 16,696,328	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,348,442	M3167L	probably benign	Het
Hps3	C	T	3: 20,030,410		probably null	Het
Hps5	A	G	7: 46,786,589	C178R	probably benign	Het
Hspg2	T	A	4: 137,570,073		probably benign	Het
Impdh2-ps	A	G	8: 100,031,207		noncoding transcript	Het
Josd2	T	A	7: 44,471,254	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,292,097	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,413,080	V323M	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Myo18a	T	C	11: 77,823,323	Y748H	probably damaging	Het
Narfl	A	T	17: 25,781,309	H322L	probably damaging	Het
Nek1	A	T	8: 61,098,511	N853I	probably benign	Het
Npnt	T	G	3: 132,904,691	T272P	possibly damaging	Het
Olfr11	T	A	13: 21,639,170	M118L	possibly damaging	Het
Olfr1390	G	A	11: 49,341,321	G263D	probably benign	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Olfr668	G	A	7: 104,924,810	T318I	possibly damaging	Het
Olfr694	C	A	7: 106,689,144	E196*	probably null	Het
Olfr76	A	G	19: 12,119,870	Y269H	possibly damaging	Het
Pappa2	T	G	1: 158,957,002	D146A	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pcsk9	C	T	4: 106,447,156	G496R	probably damaging	Het
Pes1	A	G	11: 3,964,058	K8E	probably damaging	Het
Phlpp2	G	A	8: 109,940,420	G1194S	probably damaging	Het
Pkn1	A	C	8: 83,671,749	V763G	probably damaging	Het
Pkp2	C	A	16: 16,230,724	A331E	probably damaging	Het
Plb1	T	A	5: 32,349,679		probably null	Het
Plxna1	A	T	6: 89,332,675		probably null	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Prl2c1	T	C	13: 27,857,678	C228R	probably damaging	Het
Pus7l	T	C	15: 94,540,710	S85G	probably benign	Het
Rfc3	A	C	5: 151,644,776		probably benign	Het
Riox2	A	G	16: 59,489,369	N362S	probably benign	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Scaper	A	T	9: 55,743,648	D904E	probably damaging	Het
Scn11a	T	C	9: 119,754,561	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,430,289	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,434,997	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,209,917	M66K	probably damaging	Het
Styk1	T	G	6: 131,300,466	E404A	probably damaging	Het
Synj1	T	A	16: 90,955,419	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,120,111		probably null	Het
Tmem87a	A	G	2: 120,360,037		probably null	Het
Trappc9	T	G	15: 72,937,060	Y718S	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,327,195	G397R	probably damaging	Het
Wdr33	T	A	18: 31,886,086	M454K	probably benign	Het
Wdtc1	G	T	4: 133,301,799	N325K	possibly damaging	Het
Whrn	T	C	4: 63,418,165	H720R	probably damaging	Het
Xirp2	A	T	2: 67,519,265	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 11,141,709	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,674,498	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,805,329	T901M	probably damaging	Het

Other mutations in Prkag3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Prkag3	APN	1	74748812	splice site	probably benign
IGL02139:Prkag3	APN	1	74740724	missense	probably benign	0.14
P0023:Prkag3	UTSW	1	74740739	missense	probably damaging	1.00
R0002:Prkag3	UTSW	1	74744788	missense	probably damaging	1.00
R0002:Prkag3	UTSW	1	74744788	missense	probably damaging	1.00
R0256:Prkag3	UTSW	1	74741171	missense	probably benign	0.01
R0547:Prkag3	UTSW	1	74744720	critical splice donor site	probably null
R1314:Prkag3	UTSW	1	74747184	missense	probably damaging	1.00
R1484:Prkag3	UTSW	1	74740760	missense	probably damaging	1.00
R2842:Prkag3	UTSW	1	74741175	missense	probably benign	0.30
R5159:Prkag3	UTSW	1	74741487	missense	probably damaging	1.00
R5876:Prkag3	UTSW	1	74748816	critical splice donor site	probably benign
R5989:Prkag3	UTSW	1	74741274	missense	probably benign	0.00
R7444:Prkag3	UTSW	1	74747266	missense	probably benign	0.00
R7553:Prkag3	UTSW	1	74744735	missense	probably damaging	1.00
R7630:Prkag3	UTSW	1	74744735	missense	probably damaging	1.00
R7922:Prkag3	UTSW	1	74741257	missense	probably benign	0.10
R7974:Prkag3	UTSW	1	74744821	missense	probably benign	0.14
R7994:Prkag3	UTSW	1	74747255	missense	probably benign
R8084:Prkag3	UTSW	1	74747207	missense	probably damaging	1.00
R8115:Prkag3	UTSW	1	74747959	missense	possibly damaging	0.49
R8387:Prkag3	UTSW	1	74745695	critical splice donor site	probably null
R9015:Prkag3	UTSW	1	74741194	missense	probably benign	0.05
R9489:Prkag3	UTSW	1	74747219	missense	probably damaging	1.00
R9576:Prkag3	UTSW	1	74747923	missense
R9605:Prkag3	UTSW	1	74747219	missense	probably damaging	1.00
Z1177:Prkag3	UTSW	1	74748025	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGCCATCTTTGAGGTGCC -3'
(R):5'- AAGCTTACCCTACTTCTTGGGAC -3'

Sequencing Primer
(F):5'- GTGCCATAATTTGAGATCTAGGAGC -3'
(R):5'- TACTTCTTGGGACCGGCC -3'

Posted On

2015-11-11