Mutagenetix > Incidental Mutation

Incidental Mutation 'R7477:Prkab2'

579534

Institutional Source

Beutler Lab

Gene Symbol

Prkab2

Ensembl Gene

ENSMUSG00000038205

Gene Name

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

Synonyms

5730553K21Rik

MMRRC Submission

045551-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.525) question?

Stock #

R7477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97565527-97581128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97566063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 45 (F45S)

Ref Sequence

ENSEMBL: ENSMUSP00000036410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045743] [ENSMUST00000107050] [ENSMUST00000130924] [ENSMUST00000143927]

AlphaFold

Q6PAM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045743
AA Change: F45S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036410
Gene: ENSMUSG00000038205
AA Change: F45S

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
Pfam:AMPK1_CBM	76	160	1.1e-38	PFAM
AMPKBI	181	271	6.31e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107050

SMART Domains

Protein: ENSMUSP00000102665
Gene: ENSMUSG00000028088

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	533	9.7e-280	PFAM
Pfam:Pyr_redox_2	4	228	8.5e-11	PFAM
Pfam:Pyr_redox_3	7	221	4.7e-11	PFAM
Pfam:NAD_binding_8	8	70	3.5e-7	PFAM
Pfam:K_oxygenase	80	222	2.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130924
AA Change: F45S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116622
Gene: ENSMUSG00000038205
AA Change: F45S

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143927
AA Change: F45S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115749
Gene: ENSMUSG00000038205
AA Change: F45S

Domain	Start	End	E-Value	Type
PDB:4CFF\|D	1	176	1e-68	PDB
Blast:AMPKBI	91	176	6e-50	BLAST

Meta Mutation Damage Score

0.1291

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (66/68)

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 may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	G	T	5: 35,749,447 (GRCm39)	E191*	probably null	Het
Adam26a	T	A	8: 44,022,107 (GRCm39)	E461V	probably damaging	Het
Adamtsl1	G	A	4: 86,333,888 (GRCm39)	R1539Q	probably damaging	Het
Adipor2	A	T	6: 119,338,883 (GRCm39)	H123Q	probably benign	Het
Akap13	C	T	7: 75,398,995 (GRCm39)	S2691L	probably benign	Het
Aldh1l1	T	C	6: 90,575,369 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,124 (GRCm39)	S909R	possibly damaging	Het
Bop1	T	C	15: 76,339,526 (GRCm39)	E273G	probably damaging	Het
Car1	G	A	3: 14,841,343 (GRCm39)	H97Y	probably damaging	Het
Casp14	T	C	10: 78,550,138 (GRCm39)	N170S	probably benign	Het
Ccdc158	A	T	5: 92,798,555 (GRCm39)	L382M	probably damaging	Het
Ccdc18	A	C	5: 108,368,716 (GRCm39)	Q1279H	probably damaging	Het
Cdh18	A	G	15: 23,410,811 (GRCm39)	N432S	probably benign	Het
Ctdp1	T	C	18: 80,483,929 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,916,208 (GRCm39)	I691T	probably damaging	Het
Dnah9	A	G	11: 65,883,557 (GRCm39)	I2562T	probably damaging	Het
Dsp	A	T	13: 38,356,839 (GRCm39)	I240F	probably damaging	Het
Ell	T	C	8: 71,037,868 (GRCm39)	S308P	probably benign	Het
Elmo1	A	G	13: 20,469,489 (GRCm39)	D26G		Het
Fam171a1	T	C	2: 3,226,676 (GRCm39)	V603A	probably benign	Het
Fam83e	G	A	7: 45,378,404 (GRCm39)	G476D	probably damaging	Het
Farp2	A	G	1: 93,508,750 (GRCm39)		probably null	Het
Fcer1a	C	T	1: 173,048,851 (GRCm39)		probably null	Het
Gpr179	G	T	11: 97,226,665 (GRCm39)	T1830K	possibly damaging	Het
Grin3a	G	A	4: 49,719,278 (GRCm39)	P823S	probably damaging	Het
Heatr4	T	A	12: 84,026,604 (GRCm39)	I218F	probably damaging	Het
Il36rn	T	A	2: 24,169,704 (GRCm39)	Y21*	probably null	Het
Jakmip1	A	G	5: 37,330,915 (GRCm39)	T532A	probably benign	Het
Klf11	A	G	12: 24,703,562 (GRCm39)	D16G	probably benign	Het
Lrp1	T	A	10: 127,404,789 (GRCm39)	I1971F	probably damaging	Het
Lrrc9	T	A	12: 72,550,301 (GRCm39)		probably null	Het
Lrrk2	C	T	15: 91,696,528 (GRCm39)	L2439F	probably damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mapk14	G	A	17: 28,964,052 (GRCm39)	D313N	probably damaging	Het
Max	A	T	12: 76,999,960 (GRCm39)	S52T	probably benign	Het
Mrpl23	A	G	7: 142,091,018 (GRCm39)	R80G	possibly damaging	Het
Muc5ac	C	A	7: 141,370,019 (GRCm39)	N3186K	possibly damaging	Het
Mylk2	G	A	2: 152,762,261 (GRCm39)	V511I	probably damaging	Het
Mypn	T	C	10: 62,961,500 (GRCm39)	M1031V	possibly damaging	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Ncbp1	A	T	4: 46,157,897 (GRCm39)	E378D	probably damaging	Het
Nedd9	A	T	13: 41,471,956 (GRCm39)	D174E	probably benign	Het
Nid2	T	A	14: 19,856,041 (GRCm39)	D1255E	probably benign	Het
Nlrc3	A	G	16: 3,782,675 (GRCm39)	C261R	probably damaging	Het
Or5w22	A	G	2: 87,362,431 (GRCm39)	N18S	probably benign	Het
Pgam1	T	A	19: 41,905,255 (GRCm39)	H196Q	probably damaging	Het
Pja2	A	C	17: 64,616,640 (GRCm39)	V85G	possibly damaging	Het
Pkd2	G	A	5: 104,631,108 (GRCm39)	V511M	probably benign	Het
Ppp2cb	T	A	8: 34,105,502 (GRCm39)	S171T	probably benign	Het
Rabep2	A	T	7: 126,043,990 (GRCm39)		probably null	Het
Rnf41	T	A	10: 128,271,303 (GRCm39)	I71N	probably damaging	Het
Slc5a7	G	A	17: 54,588,787 (GRCm39)	P287S	probably damaging	Het
Smc6	A	G	12: 11,321,808 (GRCm39)	D25G	probably benign	Het
Sptb	A	T	12: 76,675,339 (GRCm39)	L225Q	probably damaging	Het
Tenm4	A	C	7: 96,495,015 (GRCm39)	I1148L	probably damaging	Het
Tnk2	C	A	16: 32,496,709 (GRCm39)		probably null	Het
Trank1	G	A	9: 111,194,025 (GRCm39)	S683N	probably benign	Het
Trp53bp1	A	C	2: 121,066,827 (GRCm39)	V633G	probably benign	Het
Ugt2a3	T	C	5: 87,484,479 (GRCm39)	K182E	possibly damaging	Het
Uncx	A	T	5: 139,533,017 (GRCm39)	T361S	probably benign	Het
Vmn2r11	A	T	5: 109,207,214 (GRCm39)	N35K	possibly damaging	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het
Vmn2r5	C	T	3: 64,399,060 (GRCm39)	V640M	probably damaging	Het
Washc4	T	C	10: 83,410,307 (GRCm39)	Y632H	probably damaging	Het
Xkr6	T	C	14: 63,844,129 (GRCm39)	S51P	possibly damaging	Het
Zer1	C	A	2: 29,997,988 (GRCm39)	K408N	probably null	Het
Znhit2	A	G	19: 6,112,501 (GRCm39)		probably null	Het

Other mutations in Prkab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Prkab2	APN	3	97,569,659 (GRCm39)	missense	possibly damaging	0.95
dire	UTSW	3	97,566,063 (GRCm39)	missense	probably damaging	0.99
R0255:Prkab2	UTSW	3	97,574,728 (GRCm39)	nonsense	probably null
R0377:Prkab2	UTSW	3	97,569,633 (GRCm39)	missense	probably benign
R1500:Prkab2	UTSW	3	97,571,263 (GRCm39)	missense	probably damaging	1.00
R1952:Prkab2	UTSW	3	97,573,943 (GRCm39)	missense	probably benign	0.00
R2114:Prkab2	UTSW	3	97,574,711 (GRCm39)	missense	possibly damaging	0.49
R2437:Prkab2	UTSW	3	97,574,715 (GRCm39)	missense	probably damaging	1.00
R4935:Prkab2	UTSW	3	97,569,671 (GRCm39)	missense	probably damaging	1.00
R5085:Prkab2	UTSW	3	97,580,308 (GRCm39)	unclassified	probably benign
R5566:Prkab2	UTSW	3	97,569,609 (GRCm39)	missense	probably benign	0.21
R6186:Prkab2	UTSW	3	97,571,307 (GRCm39)	splice site	probably null
R8291:Prkab2	UTSW	3	97,569,605 (GRCm39)	missense	possibly damaging	0.94
R8313:Prkab2	UTSW	3	97,570,911 (GRCm39)	missense	probably benign	0.23
R8442:Prkab2	UTSW	3	97,566,002 (GRCm39)	missense	probably damaging	1.00
R8955:Prkab2	UTSW	3	97,573,943 (GRCm39)	missense	probably benign	0.00
Z1177:Prkab2	UTSW	3	97,569,677 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTGGTCTCCTTGTACGCCG -3'
(R):5'- CGCCCCTATCCTAATTTGAGG -3'

Sequencing Primer
(F):5'- TCCTTGTACGCCGAACAG -3'
(R):5'- GTAGTATCTAGGAGGAATTAGCACCC -3'

Posted On

2019-10-07