Mutagenetix > Incidental Mutation

Incidental Mutation 'R5597:Prkag1'

437892

Institutional Source

Beutler Lab

Gene Symbol

Prkag1

Ensembl Gene

ENSMUSG00000067713

Gene Name

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

Synonyms

Prkaac

MMRRC Submission

043149-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R5597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98710678-98729354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98713789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 14 (S14P)

Ref Sequence

ENSEMBL: ENSMUSP00000155591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168846] [ENSMUST00000229297] [ENSMUST00000230560]

AlphaFold

O54950

Predicted Effect

probably damaging
Transcript: ENSMUST00000168846
AA Change: S45P

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

SMART Domains

Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: S45P

Domain	Start	End	E-Value	Type
CBS	46	95	8.18e-7	SMART
CBS	127	176	3.12e-12	SMART
CBS	202	250	1.01e-11	SMART
CBS	274	322	2.11e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181510

Predicted Effect

probably damaging
Transcript: ENSMUST00000229297
AA Change: S14P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230113

Predicted Effect

probably damaging
Transcript: ENSMUST00000230560
AA Change: S14P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6841

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (55/55)

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 is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hemolytic anemia, extramedullary hematopoiesis, and iron accumulation in the spleen, liver, and Kupffer cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,927,363 (GRCm39)	T1330I	probably damaging	Het
Aebp1	T	C	11: 5,816,487 (GRCm39)	V322A	probably benign	Het
Anks3	T	A	16: 4,771,793 (GRCm39)	H77L	possibly damaging	Het
Bsn	A	T	9: 107,992,131 (GRCm39)	M1207K	probably benign	Het
Btla	A	G	16: 45,064,599 (GRCm39)	T183A	probably benign	Het
Cdca8	G	A	4: 124,812,793 (GRCm39)	R286W	probably damaging	Het
Cnot6l	T	C	5: 96,278,978 (GRCm39)	D80G	probably damaging	Het
Col16a1	A	G	4: 129,952,097 (GRCm39)	D93G	probably damaging	Het
Ctsk	T	C	3: 95,409,007 (GRCm39)	V130A	probably damaging	Het
Cul9	T	C	17: 46,813,591 (GRCm39)	E2294G	possibly damaging	Het
Dcaf5	G	T	12: 80,386,817 (GRCm39)	S436R	probably damaging	Het
Dnah7a	A	T	1: 53,573,611 (GRCm39)	L1792H	probably benign	Het
Dst	T	C	1: 34,231,794 (GRCm39)	V3307A	probably benign	Het
Frrs1	C	T	3: 116,671,887 (GRCm39)		probably benign	Het
Gimap4	T	C	6: 48,667,698 (GRCm39)	L151P	probably damaging	Het
Hook2	A	G	8: 85,720,657 (GRCm39)	N166S	probably benign	Het
Hp1bp3	A	T	4: 137,948,939 (GRCm39)	M1L	possibly damaging	Het
Igkv4-56	T	A	6: 69,564,467 (GRCm39)		noncoding transcript	Het
Kdm6b	C	T	11: 69,296,900 (GRCm39)	A456T	probably damaging	Het
Lamc1	A	G	1: 153,127,716 (GRCm39)	C396R	probably damaging	Het
Lars2	A	T	9: 123,284,047 (GRCm39)	D745V	probably damaging	Het
Macf1	A	T	4: 123,433,570 (GRCm39)		probably benign	Het
Mapk4	T	A	18: 74,070,341 (GRCm39)	Y184F	probably benign	Het
Mgat5	A	G	1: 127,325,303 (GRCm39)	Y390C	probably damaging	Het
Msh2	T	C	17: 88,030,789 (GRCm39)	S889P	probably benign	Het
Nebl	A	G	2: 17,382,978 (GRCm39)	S100P	probably benign	Het
Nudt7	A	T	8: 114,878,506 (GRCm39)	H154L	probably benign	Het
Olig2	A	T	16: 91,023,768 (GRCm39)	M161L	probably benign	Het
Or2ah1	T	C	2: 85,653,804 (GRCm39)	L163P	probably damaging	Het
Or5h24	A	T	16: 58,918,710 (GRCm39)	V215D	unknown	Het
Or6c214	T	C	10: 129,590,755 (GRCm39)	D188G	probably damaging	Het
Palmd	T	A	3: 116,717,225 (GRCm39)	D424V	probably damaging	Het
Pdzk1ip1	A	G	4: 114,950,689 (GRCm39)	N164D	probably damaging	Het
Prss12	C	T	3: 123,258,389 (GRCm39)	P161L	probably benign	Het
Pwwp2a	T	C	11: 43,573,422 (GRCm39)	V168A	probably benign	Het
Rassf7	A	G	7: 140,797,024 (GRCm39)	D79G	probably damaging	Het
Rgs3	A	T	4: 62,542,082 (GRCm39)	I19F	probably damaging	Het
Slc30a10	C	A	1: 185,194,897 (GRCm39)	H236Q	probably damaging	Het
Slco3a1	C	A	7: 73,934,210 (GRCm39)	R654L	probably benign	Het
Smad4	A	C	18: 73,795,898 (GRCm39)	F165L	probably benign	Het
Swsap1	G	T	9: 21,867,242 (GRCm39)	R62M	probably damaging	Het
Tenm4	T	A	7: 96,202,724 (GRCm39)	M113K	probably benign	Het
Tmem225	A	G	9: 40,060,726 (GRCm39)	N95S	possibly damaging	Het
Tnni3k	A	T	3: 154,577,765 (GRCm39)	L658H	probably damaging	Het
Trem2	G	A	17: 48,658,840 (GRCm39)	V202I	probably benign	Het
Tyw1	C	T	5: 130,303,498 (GRCm39)	L289F	probably benign	Het
Vcam1	T	A	3: 115,919,651 (GRCm39)	D205V	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,674,073 (GRCm39)	D377G	probably benign	Het
Yy1	A	G	12: 108,781,436 (GRCm39)	D367G	probably damaging	Het
Zfp11	A	T	5: 129,734,166 (GRCm39)	C432S	probably benign	Het

Other mutations in Prkag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Prkag1	APN	15	98,712,412 (GRCm39)	missense	probably damaging	1.00
IGL02621:Prkag1	APN	15	98,711,909 (GRCm39)	missense	probably damaging	1.00
IGL02804:Prkag1	APN	15	98,713,385 (GRCm39)	missense	probably damaging	1.00
IGL03197:Prkag1	APN	15	98,713,058 (GRCm39)	splice site	probably benign
R0328:Prkag1	UTSW	15	98,713,563 (GRCm39)	missense	probably damaging	1.00
R1188:Prkag1	UTSW	15	98,712,479 (GRCm39)	missense	probably damaging	0.99
R1493:Prkag1	UTSW	15	98,711,551 (GRCm39)	missense	probably benign	0.02
R1663:Prkag1	UTSW	15	98,713,776 (GRCm39)	missense	probably damaging	1.00
R2115:Prkag1	UTSW	15	98,712,433 (GRCm39)	missense	probably damaging	1.00
R2216:Prkag1	UTSW	15	98,713,827 (GRCm39)	start codon destroyed	probably null	1.00
R5037:Prkag1	UTSW	15	98,713,768 (GRCm39)	missense	possibly damaging	0.51
R5175:Prkag1	UTSW	15	98,713,596 (GRCm39)	missense	possibly damaging	0.82
R6185:Prkag1	UTSW	15	98,723,595 (GRCm39)	missense	probably benign	0.00
R6359:Prkag1	UTSW	15	98,712,433 (GRCm39)	missense	probably damaging	1.00
R6429:Prkag1	UTSW	15	98,712,404 (GRCm39)	missense	probably damaging	1.00
R7777:Prkag1	UTSW	15	98,712,478 (GRCm39)	missense	probably damaging	1.00
R8432:Prkag1	UTSW	15	98,713,425 (GRCm39)	missense	possibly damaging	0.71
R8922:Prkag1	UTSW	15	98,712,147 (GRCm39)	missense	probably benign
R9163:Prkag1	UTSW	15	98,711,900 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CTTTACCTATGGCCAAGAGAGTA -3'
(R):5'- AAGGAAGCTGGACGTGGTGT -3'

Sequencing Primer
(F):5'- TATGGCCAAGAGAGTAACCTCCTAAG -3'
(R):5'- GACGTGGTGTCTCGAAAAAC -3'

Posted On

2016-10-26