Mutagenetix > Incidental Mutation

Incidental Mutation 'R0755:Prkag2'

70403

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

038935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25067742-25305640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 25152629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 158 (S158R)

Ref Sequence

ENSEMBL: ENSMUSP00000030784 (fasta)

Gene Model

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

AlphaFold

Q91WG5

Predicted Effect

probably benign
Transcript: ENSMUST00000030784
AA Change: S158R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: S158R

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 benign
Transcript: ENSMUST00000076306
AA Change: S34R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: S34R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,638 (GRCm39)		probably benign	Het
Acin1	A	G	14: 54,889,292 (GRCm39)	M1T	probably null	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aldh1a1	A	G	19: 20,595,358 (GRCm39)	M96V	probably benign	Het
Ankfn1	T	A	11: 89,282,913 (GRCm39)	M245L	probably benign	Het
Arhgap19	T	C	19: 41,769,614 (GRCm39)	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,116,948 (GRCm39)	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,247,330 (GRCm39)	V557I	possibly damaging	Het
AU041133	A	T	10: 81,986,724 (GRCm39)	K126*	probably null	Het
Axin1	T	A	17: 26,401,480 (GRCm39)	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,221,367 (GRCm39)	K176E	probably damaging	Het
Baz2a	C	T	10: 127,955,560 (GRCm39)	T848I	possibly damaging	Het
Bbs2	A	C	8: 94,808,708 (GRCm39)	V333G	probably benign	Het
BC051019	G	A	7: 109,315,302 (GRCm39)	Q318*	probably null	Het
Bltp1	T	C	3: 37,000,513 (GRCm39)	S1231P	probably damaging	Het
Cdc37	C	T	9: 21,051,160 (GRCm39)	D362N	probably damaging	Het
Cep170	A	T	1: 176,583,319 (GRCm39)	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,758,747 (GRCm39)	V385A	probably benign	Het
Cntrl	G	A	2: 35,035,151 (GRCm39)	S373N	probably damaging	Het
Col23a1	G	A	11: 51,467,706 (GRCm39)	G19D	probably damaging	Het
Cyb5r4	G	T	9: 86,911,625 (GRCm39)	A100S	probably damaging	Het
Dctn1	C	T	6: 83,166,059 (GRCm39)	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,472,247 (GRCm39)	T46M	probably damaging	Het
Disp2	T	C	2: 118,620,243 (GRCm39)	F325S	probably benign	Het
Dnah11	T	G	12: 117,918,564 (GRCm39)	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,162,360 (GRCm39)	V70F	probably benign	Het
Duoxa1	T	A	2: 122,135,161 (GRCm39)	T195S	probably benign	Het
Dync2i1	T	C	12: 116,175,412 (GRCm39)	I922V	probably benign	Het
Eif2ak1	T	A	5: 143,821,742 (GRCm39)	F353I	possibly damaging	Het
Esam	A	G	9: 37,447,998 (GRCm39)	T211A	probably damaging	Het
Faf1	A	G	4: 109,819,036 (GRCm39)	N636S	probably benign	Het
Fbxo25	A	G	8: 13,985,219 (GRCm39)	Y305C	probably benign	Het
Fchsd1	C	T	18: 38,101,803 (GRCm39)		probably null	Het
Fdxacb1	T	A	9: 50,683,025 (GRCm39)	D329E	possibly damaging	Het
Gvin2	A	T	7: 105,545,892 (GRCm39)	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,237,104 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,343,172 (GRCm39)	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,116,053 (GRCm39)	T5I	probably benign	Het
Itfg1	A	T	8: 86,452,834 (GRCm39)	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 66,932,378 (GRCm39)		probably benign	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,375,591 (GRCm39)	K89M	probably damaging	Het
Krt19	A	T	11: 100,032,965 (GRCm39)	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,123,196 (GRCm39)	Y665N	possibly damaging	Het
Lct	A	T	1: 128,221,872 (GRCm39)	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,263,719 (GRCm39)	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,804,472 (GRCm39)		probably null	Het
Mff	G	A	1: 82,728,326 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,412,230 (GRCm39)	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,572,295 (GRCm39)	L123M	probably damaging	Het
Ntn5	C	T	7: 45,335,952 (GRCm39)	P128S	probably benign	Het
Nudt9	T	C	5: 104,212,920 (GRCm39)	V331A	probably damaging	Het
Or2y3	A	T	17: 38,393,085 (GRCm39)	Y261*	probably null	Het
Or7g34	T	C	9: 19,478,415 (GRCm39)	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,877,664 (GRCm39)	K406N	possibly damaging	Het
Pkdrej	T	A	15: 85,700,336 (GRCm39)	I1867L	probably benign	Het
Plppr4	C	T	3: 117,116,319 (GRCm39)	G455R	possibly damaging	Het
Pramel11	A	G	4: 143,624,299 (GRCm39)	V66A	probably damaging	Het
Ptprq	T	G	10: 107,418,400 (GRCm39)	T1659P	probably benign	Het
Rasl12	A	G	9: 65,318,241 (GRCm39)	K202E	probably benign	Het
Rb1	A	C	14: 73,434,653 (GRCm39)	*922G	probably null	Het
Rsf1	C	T	7: 97,229,174 (GRCm39)	P22S	probably damaging	Het
Scn1a	T	G	2: 66,151,379 (GRCm39)	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc22a7	T	G	17: 46,749,113 (GRCm39)	H68P	possibly damaging	Het
Slc4a2	G	A	5: 24,640,575 (GRCm39)	A652T	probably benign	Het
Slc5a1	T	A	5: 33,290,733 (GRCm39)	L106M	probably benign	Het
Slco1c1	C	T	6: 141,477,258 (GRCm39)	P19S	probably damaging	Het
Snx1	A	G	9: 66,005,738 (GRCm39)	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,576 (GRCm39)	I199N	probably damaging	Het
Snx33	T	C	9: 56,832,741 (GRCm39)	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,089,016 (GRCm39)	F749L	probably damaging	Het
Stoml3	T	A	3: 53,405,559 (GRCm39)	Y53*	probably null	Het
Stxbp2	A	G	8: 3,692,019 (GRCm39)	T554A	probably benign	Het
Tal1	T	C	4: 114,925,573 (GRCm39)	I214T	probably damaging	Het
Tas2r140	T	A	6: 40,468,344 (GRCm39)	I58N	probably damaging	Het
Thap1	A	G	8: 26,648,501 (GRCm39)	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,368 (GRCm39)	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,842,740 (GRCm39)	D735E	probably damaging	Het
Unc80	G	A	1: 66,544,082 (GRCm39)	D402N	probably damaging	Het
Upf1	G	T	8: 70,786,779 (GRCm39)	R902S	probably benign	Het
Urb1	A	G	16: 90,570,982 (GRCm39)	Y1276H	probably damaging	Het
Urb1	A	T	16: 90,576,026 (GRCm39)	F843L	probably benign	Het
Vmn1r198	C	T	13: 22,539,402 (GRCm39)	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,588,892 (GRCm39)	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,993,830 (GRCm39)	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,364,226 (GRCm39)	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 41,844,869 (GRCm39)	G744D	probably damaging	Het
Vstm4	T	C	14: 32,614,601 (GRCm39)	V181A	probably damaging	Het
Wdr72	G	A	9: 74,052,376 (GRCm39)	V136I	probably benign	Het
Zfp236	T	A	18: 82,638,457 (GRCm39)	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,728,839 (GRCm39)	F291I	probably damaging	Het
Zfp944	A	T	17: 22,558,889 (GRCm39)	H119Q	possibly damaging	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
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
R4604:Prkag2	UTSW	5	25,083,732 (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'- ACCCTGGGAGAGATGCAGACTTAC -3'
(R):5'- CCCCACCAATATGGCTCTGTGATG -3'

Sequencing Primer
(F):5'- CTTACAGTTCTCAAAGGAGCATGG -3'
(R):5'- TGCTCACACCTCAGCATGG -3'

Posted On

2013-09-30