Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01292:Prkab1'

72947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkab1

Ensembl Gene

ENSMUSG00000029513

Gene Name

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

Synonyms

1300015D22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

IGL01292

Quality Score

Status

Chromosome

Chromosomal Location

116151654-116162449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116162169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 47 (F47Y)

Ref Sequence

ENSEMBL: ENSMUSP00000107630 (fasta)

Gene Model

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

AlphaFold

Q9R078

Predicted Effect

probably damaging
Transcript: ENSMUST00000031486
AA Change: F47Y

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

SMART Domains

Protein: ENSMUSP00000031486
Gene: ENSMUSG00000029513
AA Change: F47Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111999
AA Change: F47Y

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

SMART Domains

Protein: ENSMUSP00000107630
Gene: ENSMUSG00000029513
AA Change: F47Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133098
AA Change: F47Y

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138749
Gene: ENSMUSG00000029513
AA Change: F47Y

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: ENSMUST00000144932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147343

Predicted Effect

probably benign
Transcript: ENSMUST00000148208
AA Change: F47Y

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138221
Gene: ENSMUSG00000029513
AA Change: F47Y

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: ENSMUST00000156331

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,831 (GRCm39)	S1045G	probably benign	Het
Aak1	T	C	6: 86,926,520 (GRCm39)		probably benign	Het
Car15	A	G	16: 17,653,393 (GRCm39)	F258S	probably damaging	Het
Cpd	A	G	11: 76,737,071 (GRCm39)	I241T	possibly damaging	Het
Dchs1	T	C	7: 105,410,098 (GRCm39)	D1758G	probably damaging	Het
Dnaaf11	A	T	15: 66,353,082 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,120,988 (GRCm39)	N75I	possibly damaging	Het
Eps8l1	T	C	7: 4,481,919 (GRCm39)		probably benign	Het
Gdpd4	T	C	7: 97,664,161 (GRCm39)		probably benign	Het
Igbp1b	C	T	6: 138,634,533 (GRCm39)	E304K	probably benign	Het
Ighv1-63	A	G	12: 115,459,478 (GRCm39)	S40P	probably damaging	Het
Intu	T	C	3: 40,618,696 (GRCm39)	V234A	probably benign	Het
Mars1	A	T	10: 127,141,387 (GRCm39)	I334N	probably damaging	Het
Morc2a	C	A	11: 3,638,175 (GRCm39)	A967D	probably damaging	Het
Mtrf1l	A	T	10: 5,764,090 (GRCm39)	M291K	probably benign	Het
Muc19	A	G	15: 91,778,470 (GRCm39)		noncoding transcript	Het
Myl3	A	T	9: 110,597,045 (GRCm39)	D135V	probably damaging	Het
Myt1	T	A	2: 181,446,805 (GRCm39)	L537M	probably damaging	Het
Ndst4	A	G	3: 125,232,403 (GRCm39)	D324G	probably damaging	Het
Plce1	T	A	19: 38,640,229 (GRCm39)		probably benign	Het
Prkag2	C	T	5: 25,226,963 (GRCm39)	S98N	probably benign	Het
Rasgef1a	T	A	6: 118,057,344 (GRCm39)	V15D	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,051 (GRCm39)	C67*	probably null	Het
Slc25a15	T	C	8: 22,880,052 (GRCm39)	D31G	possibly damaging	Het
Slc4a11	C	T	2: 130,532,752 (GRCm39)		probably null	Het
Snx15	A	T	19: 6,169,915 (GRCm39)	M331K	probably benign	Het
Tsks	T	C	7: 44,601,982 (GRCm39)	Y224H	probably damaging	Het
Ufd1	T	C	16: 18,639,864 (GRCm39)	S123P	probably damaging	Het
Xpnpep3	T	G	15: 81,311,699 (GRCm39)	V135G	probably damaging	Het

Other mutations in Prkab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6726:Prkab1	UTSW	5	116,158,092 (GRCm39)	missense	probably benign	0.04
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

Posted On

2013-10-07