Mutagenetix > Incidental Mutation

Incidental Mutation 'R6726:Prkab1'

529858

Institutional Source

Beutler Lab

Gene Symbol

Prkab1

Ensembl Gene

ENSMUSG00000029513

Gene Name

protein kinase, AMP-activated, beta 1 non-catalytic subunit

Synonyms

1300015D22Rik

MMRRC Submission

044844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R6726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116151654-116162449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116158092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 168 (V168A)

Ref Sequence

ENSEMBL: ENSMUSP00000107630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031486] [ENSMUST00000111999] [ENSMUST00000133098] [ENSMUST00000148208]

AlphaFold

Q9R078

Predicted Effect

probably benign
Transcript: ENSMUST00000031486
AA Change: V168A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031486
Gene: ENSMUSG00000029513
AA Change: V168A

Domain	Start	End	E-Value	Type
Pfam:AMPK1_CBM	78	161	3e-37	PFAM
AMPKBI	180	270	4.04e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111999
AA Change: V168A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107630
Gene: ENSMUSG00000029513
AA Change: V168A

Domain	Start	End	E-Value	Type
AMPKBI	180	270	4.04e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127049

Predicted Effect

probably benign
Transcript: ENSMUST00000133098

SMART Domains

Protein: ENSMUSP00000138749
Gene: ENSMUSG00000029513

Domain	Start	End	E-Value	Type
PDB:4CFF\|D	1	139	4e-97	PDB
Blast:AMPKBI	90	139	2e-29	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143524

Predicted Effect

probably benign
Transcript: ENSMUST00000148208

SMART Domains

Protein: ENSMUSP00000138221
Gene: ENSMUSG00000029513

Domain	Start	End	E-Value	Type
PDB:4CFF\|D	1	139	4e-97	PDB
Blast:AMPKBI	90	139	2e-29	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147343

Meta Mutation Damage Score

0.0904

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (41/41)

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. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene trap allele exhibit altered brain development, seizures, and postnatal death. Homozygotes for a null allele are protected from diet-induced obesity and hepatic insulin resistance. Homozygotes for another null allele show microcytic anemia and extramedullary hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Arfgef2	T	A	2: 166,735,540 (GRCm39)		probably null	Het
Arsk	T	C	13: 76,222,907 (GRCm39)	Y230C	probably damaging	Het
Atf7ip	G	A	6: 136,559,389 (GRCm39)	V737M	probably damaging	Het
Atp6v1e1	A	T	6: 120,781,011 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,557,260 (GRCm39)	V3A	probably benign	Het
Brap	T	C	5: 121,813,365 (GRCm39)	S243P	probably damaging	Het
Camkmt	T	A	17: 85,702,037 (GRCm39)	I167N	probably damaging	Het
Ckap2l	C	A	2: 129,111,114 (GRCm39)	E694D	probably damaging	Het
Crmp1	G	A	5: 37,441,408 (GRCm39)	V497I	probably benign	Het
Dbx2	A	G	15: 95,522,741 (GRCm39)	V322A	possibly damaging	Het
Dll1	C	A	17: 15,590,513 (GRCm39)	C401F	probably damaging	Het
Dock10	T	C	1: 80,490,147 (GRCm39)	T1991A	probably damaging	Het
Dock3	C	T	9: 107,036,651 (GRCm39)	W42*	probably null	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Hdac1-ps	A	G	17: 78,800,287 (GRCm39)	E426G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Irs2	T	C	8: 11,054,961 (GRCm39)	N1157S	possibly damaging	Het
Kndc1	T	C	7: 139,502,667 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,748,185 (GRCm39)	N1241S	probably benign	Het
Or9g4b	T	C	2: 85,615,906 (GRCm39)	F17S	possibly damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pcdh17	T	A	14: 84,683,657 (GRCm39)	D41E	probably damaging	Het
Plg	T	G	17: 12,597,595 (GRCm39)	L14R	probably damaging	Het
Prr35	G	C	17: 26,166,689 (GRCm39)	P283A	probably benign	Het
Ptdss1	C	T	13: 67,101,595 (GRCm39)	R95*	probably null	Het
Rab3gap2	T	G	1: 184,980,062 (GRCm39)	S327A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Homo
Sdr42e2	T	C	7: 120,425,332 (GRCm39)	S308P	probably damaging	Het
Senp8	C	A	9: 59,644,473 (GRCm39)	V228L	probably benign	Het
Serpina10	A	T	12: 103,594,628 (GRCm39)	I197K	probably benign	Het
Serpinb6d	A	G	13: 33,854,718 (GRCm39)	N231S	probably benign	Het
Sez6l2	T	C	7: 126,567,177 (GRCm39)	V869A	probably damaging	Het
Sgo2b	T	A	8: 64,380,769 (GRCm39)	K688*	probably null	Het
Sh3kbp1	A	T	X: 158,624,176 (GRCm39)	E39D	probably benign	Homo
Ufsp2	T	C	8: 46,438,504 (GRCm39)	M194T	probably benign	Het
Ush2a	T	C	1: 188,485,881 (GRCm39)	I2997T	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,637 (GRCm39)	G730D	probably damaging	Het
Wdr72	T	C	9: 74,059,822 (GRCm39)	Y411H	possibly damaging	Het
Xirp2	T	C	2: 67,343,212 (GRCm39)	S1818P	possibly damaging	Het

Other mutations in Prkab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Prkab1	APN	5	116,162,169 (GRCm39)	missense	probably damaging	1.00
IGL01730:Prkab1	APN	5	116,159,551 (GRCm39)	missense	probably damaging	1.00
R0145:Prkab1	UTSW	5	116,156,144 (GRCm39)	splice site	probably benign
R0233:Prkab1	UTSW	5	116,159,711 (GRCm39)	splice site	probably benign
R2295:Prkab1	UTSW	5	116,159,715 (GRCm39)	splice site	probably null
R5845:Prkab1	UTSW	5	116,162,219 (GRCm39)	missense	probably benign	0.00
R7432:Prkab1	UTSW	5	116,162,221 (GRCm39)	missense	possibly damaging	0.60
R8857:Prkab1	UTSW	5	116,158,147 (GRCm39)	missense	probably damaging	1.00
R9701:Prkab1	UTSW	5	116,162,274 (GRCm39)	missense	probably benign
R9802:Prkab1	UTSW	5	116,162,274 (GRCm39)	missense	probably benign
RF018:Prkab1	UTSW	5	116,159,689 (GRCm39)	missense	probably damaging	0.96
X0062:Prkab1	UTSW	5	116,159,571 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GGGTTAAACTCCAACAGCCAGG -3'
(R):5'- AAGAGTCGCTAACCAGGCAG -3'

Sequencing Primer
(F):5'- CCACTGGAATTAGGAAGGAACTGC -3'
(R):5'- TCGCTAACCAGGCAGTGAGG -3'

Posted On

2018-08-01