Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Prkag2'

345857

Institutional Source

Beutler Lab

Gene Symbol

Prkag2

Ensembl Gene

ENSMUSG00000028944

Gene Name

protein kinase, AMP-activated, gamma 2 non-catalytic subunit

Synonyms

2410051C13Rik

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25067742-25305640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25083732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 84 (I84F)

Ref Sequence

ENSEMBL: ENSMUSP00000114978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030784] [ENSMUST00000076306] [ENSMUST00000114975] [ENSMUST00000131486] [ENSMUST00000150135]

AlphaFold

Q91WG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030784
AA Change: I323F

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

SMART Domains

Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: I323F

Domain	Start	End	E-Value	Type
low complexity region	9	29	N/A	INTRINSIC
low complexity region	81	95	N/A	INTRINSIC
low complexity region	113	122	N/A	INTRINSIC
low complexity region	129	144	N/A	INTRINSIC
low complexity region	151	172	N/A	INTRINSIC
low complexity region	228	243	N/A	INTRINSIC
CBS	276	325	7.01e-6	SMART
CBS	357	406	4.28e-10	SMART
CBS	432	480	8.11e-11	SMART
CBS	504	552	3.62e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076306
AA Change: I200F

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

SMART Domains

Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: I200F

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
low complexity region	104	119	N/A	INTRINSIC
CBS	153	202	7.01e-6	SMART
CBS	234	283	4.28e-10	SMART
CBS	309	357	8.11e-11	SMART
CBS	381	429	3.62e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114975
AA Change: I83F

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

SMART Domains

Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: I83F

Domain	Start	End	E-Value	Type
CBS	36	85	7.01e-6	SMART
CBS	117	166	4.28e-10	SMART
CBS	192	240	8.11e-11	SMART
CBS	264	312	3.62e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129022

Predicted Effect

probably damaging
Transcript: ENSMUST00000131486
AA Change: I65F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944
AA Change: I65F

Domain	Start	End	E-Value	Type
CBS	18	67	7.01e-6	SMART
CBS	99	148	4.28e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139698

Predicted Effect

probably damaging
Transcript: ENSMUST00000150135
AA Change: I84F

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

SMART Domains

Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944
AA Change: I84F

Domain	Start	End	E-Value	Type
CBS	37	86	7.01e-6	SMART
CBS	118	167	4.28e-10	SMART
CBS	193	241	8.11e-11	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous constitutively active mutants develop age related obesity caused by polyphagia, glucose intolerance and insulin resistance and exhibit slowing of heart rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,699,074 (GRCm39)		probably benign	Het
Abcb6	G	A	1: 75,156,521 (GRCm39)	T81I	probably benign	Het
Acp6	A	G	3: 97,083,075 (GRCm39)	K362R	probably benign	Het
Adam26a	A	G	8: 44,023,088 (GRCm39)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,327,915 (GRCm39)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp2a1	G	A	7: 126,047,795 (GRCm39)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,919,406 (GRCm39)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,786,426 (GRCm39)		probably null	Het
Btnl6	T	A	17: 34,727,435 (GRCm39)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 44,915,928 (GRCm39)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,759 (GRCm39)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,454 (GRCm39)	K775E	probably benign	Het
Cdh23	T	G	10: 60,173,445 (GRCm39)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,948,993 (GRCm39)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,493,729 (GRCm39)	T124K	probably benign	Het
Ckap5	A	T	2: 91,408,476 (GRCm39)	E890D	probably benign	Het
Col22a1	G	T	15: 71,824,188 (GRCm39)	P569T	probably benign	Het
Colq	A	T	14: 31,267,060 (GRCm39)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,664,278 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,868,211 (GRCm39)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,841,072 (GRCm39)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,019,830 (GRCm39)	D256G	possibly damaging	Het
Dclk3	A	T	9: 111,298,253 (GRCm39)	D599V	probably damaging	Het
Defb26	T	A	2: 152,350,104 (GRCm39)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,106,643 (GRCm39)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,415,960 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,713,836 (GRCm39)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm39)	H1344R	probably benign	Het
Enam	A	C	5: 88,652,142 (GRCm39)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,049,748 (GRCm39)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 85,882,666 (GRCm39)	W393G	probably damaging	Het
Gab2	A	G	7: 96,953,420 (GRCm39)	T599A	probably damaging	Het
Gfy	T	A	7: 44,826,612 (GRCm39)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,591,433 (GRCm39)		probably null	Het
Gm4787	A	G	12: 81,425,987 (GRCm39)	M57T	probably benign	Het
Gper1	A	G	5: 139,412,480 (GRCm39)	E275G	probably damaging	Het
Grik4	T	C	9: 42,435,882 (GRCm39)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,875,513 (GRCm39)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,904,767 (GRCm39)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,057,747 (GRCm39)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,009,600 (GRCm39)		probably null	Het
Hipk3	A	C	2: 104,269,674 (GRCm39)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,313,225 (GRCm39)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 104,104,124 (GRCm39)	H281N	unknown	Het
Ilrun	T	C	17: 28,039,289 (GRCm39)	D7G	probably damaging	Het
Irak2	T	A	6: 113,649,848 (GRCm39)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,334,296 (GRCm39)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,359,106 (GRCm39)		probably null	Het
Kcnn3	G	T	3: 89,427,727 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,328,775 (GRCm39)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,221,127 (GRCm39)	N195Y	probably damaging	Het
Ltf	A	T	9: 110,851,409 (GRCm39)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,447,527 (GRCm39)	I479T	probably damaging	Het
Mfhas1	T	C	8: 36,055,764 (GRCm39)	S80P	probably benign	Het
Mknk1	A	G	4: 115,735,224 (GRCm39)	E364G	probably damaging	Het
Msh4	C	T	3: 153,577,920 (GRCm39)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,712,631 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,547,007 (GRCm39)	W356R	probably damaging	Het
Nbea	A	G	3: 55,631,069 (GRCm39)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,427,992 (GRCm39)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,407,158 (GRCm39)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,645,908 (GRCm39)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,448,365 (GRCm39)	S137P	probably damaging	Het
Obscn	C	T	11: 58,971,031 (GRCm39)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,013,572 (GRCm39)	K1092E	probably damaging	Het
Oosp2	A	C	19: 11,627,047 (GRCm39)	I92S	probably benign	Het
Or5ar1	C	T	2: 85,671,526 (GRCm39)	C203Y	probably damaging	Het
Pcdh9	T	C	14: 94,124,616 (GRCm39)	D518G	probably damaging	Het
Pde11a	G	T	2: 76,168,137 (GRCm39)	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,549,851 (GRCm39)	Q162L	probably null	Het
Prm2	G	T	16: 10,609,613 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,032,035 (GRCm39)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,559,793 (GRCm39)	C158S	probably benign	Het
Prrt3	C	A	6: 113,475,198 (GRCm39)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,263,728 (GRCm39)	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,462,887 (GRCm39)	V337A	probably benign	Het
Sall1	T	A	8: 89,756,969 (GRCm39)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,524,708 (GRCm39)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,234,036 (GRCm39)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,428,529 (GRCm39)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,727,319 (GRCm39)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,678,658 (GRCm39)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,682,353 (GRCm39)	T463S	probably benign	Het
Spsb4	C	A	9: 96,877,931 (GRCm39)	A131S	probably benign	Het
Sting1	T	A	18: 35,871,743 (GRCm39)	I170F	probably damaging	Het
Syne2	A	G	12: 76,014,484 (GRCm39)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,857,634 (GRCm39)		probably null	Het
Tekt4	T	A	17: 25,690,749 (GRCm39)	D18E	probably benign	Het
Timm50	A	G	7: 28,010,443 (GRCm39)	V37A	probably benign	Het
Tlx2	A	C	6: 83,045,741 (GRCm39)	*285G	probably null	Het
Tshz1	C	A	18: 84,031,499 (GRCm39)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,700,805 (GRCm39)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,100,274 (GRCm39)	S113T	probably benign	Het
Tyk2	T	C	9: 21,019,305 (GRCm39)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 103,791,698 (GRCm39)	S131P	probably benign	Het
Uncx	A	T	5: 139,529,837 (GRCm39)	H30L	possibly damaging	Het
Usp25	T	A	16: 76,912,303 (GRCm39)	D1007E	probably damaging	Het
Usp47	T	C	7: 111,701,038 (GRCm39)	V1083A	probably damaging	Het
Wdr24	T	A	17: 26,047,479 (GRCm39)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,986,330 (GRCm39)	D37G	probably damaging	Het
Xpo6	T	C	7: 125,712,924 (GRCm39)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,392,124 (GRCm39)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,855,425 (GRCm39)	C71*	probably null	Het

Other mutations in Prkag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Prkag2	APN	5	25,226,963 (GRCm39)	missense	probably benign	0.01
R0437:Prkag2	UTSW	5	25,233,503 (GRCm39)	missense	possibly damaging	0.65
R0622:Prkag2	UTSW	5	25,074,247 (GRCm39)	missense	probably damaging	0.98
R0755:Prkag2	UTSW	5	25,152,629 (GRCm39)	missense	probably benign	0.25
R1400:Prkag2	UTSW	5	25,078,916 (GRCm39)	missense	probably damaging	1.00
R1561:Prkag2	UTSW	5	25,076,593 (GRCm39)	missense	probably damaging	1.00
R1569:Prkag2	UTSW	5	25,152,475 (GRCm39)	missense	possibly damaging	0.59
R1612:Prkag2	UTSW	5	25,082,026 (GRCm39)	missense	probably benign	0.06
R1615:Prkag2	UTSW	5	25,080,176 (GRCm39)	missense	possibly damaging	0.56
R1700:Prkag2	UTSW	5	25,076,539 (GRCm39)	missense	probably damaging	0.97
R2011:Prkag2	UTSW	5	25,076,052 (GRCm39)	critical splice donor site	probably null
R2045:Prkag2	UTSW	5	25,152,580 (GRCm39)	missense	possibly damaging	0.76
R2230:Prkag2	UTSW	5	25,113,362 (GRCm39)	missense	probably benign	0.10
R2863:Prkag2	UTSW	5	25,226,790 (GRCm39)	missense	probably benign	0.39
R3104:Prkag2	UTSW	5	25,076,067 (GRCm39)	nonsense	probably null
R4193:Prkag2	UTSW	5	25,083,758 (GRCm39)	missense	probably damaging	1.00
R4520:Prkag2	UTSW	5	25,071,169 (GRCm39)	missense	probably damaging	1.00
R5736:Prkag2	UTSW	5	25,083,720 (GRCm39)	missense	probably damaging	1.00
R6273:Prkag2	UTSW	5	25,152,534 (GRCm39)	missense	probably damaging	0.96
R6414:Prkag2	UTSW	5	25,305,178 (GRCm39)	start gained	probably benign
R6510:Prkag2	UTSW	5	25,305,286 (GRCm39)	start gained	probably benign
R6511:Prkag2	UTSW	5	25,305,286 (GRCm39)	start gained	probably benign
R7035:Prkag2	UTSW	5	25,152,564 (GRCm39)	missense	probably damaging	1.00
R7084:Prkag2	UTSW	5	25,226,967 (GRCm39)	missense	probably benign
R7211:Prkag2	UTSW	5	25,200,296 (GRCm39)	missense	probably benign	0.00
R7353:Prkag2	UTSW	5	25,085,684 (GRCm39)	missense	possibly damaging	0.85
R8204:Prkag2	UTSW	5	25,074,125 (GRCm39)	splice site	probably null
R8354:Prkag2	UTSW	5	25,074,137 (GRCm39)	nonsense	probably null
R8401:Prkag2	UTSW	5	25,068,868 (GRCm39)	missense	probably benign
R8560:Prkag2	UTSW	5	25,071,063 (GRCm39)	critical splice donor site	probably benign
R8747:Prkag2	UTSW	5	25,085,680 (GRCm39)	critical splice donor site	probably null
R9634:Prkag2	UTSW	5	25,074,238 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CCTTCTCAAAGCGTCCAAAG -3'
(R):5'- GCAGTATGCCTAGTAAGCCAG -3'

Sequencing Primer
(F):5'- CGTCCAAAGATGCCGTGAG -3'
(R):5'- GTAAGCCAGCCAGTTTATCCTAGG -3'

Posted On

2015-09-25