Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Prkag1'

598970

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

045833-MU

Accession Numbers

Essential gene?

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

Stock #

R7777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98710678-98729354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98712478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 149 (I149N)

Ref Sequence

ENSEMBL: ENSMUSP00000132499 (fasta)

Gene Model

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

AlphaFold

O54950

Predicted Effect

probably damaging
Transcript: ENSMUST00000168846
AA Change: I149N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: I149N

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

probably damaging
Transcript: ENSMUST00000229297
AA Change: I118N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230560
AA Change: I118N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,758 (GRCm39)	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,995,373 (GRCm39)	T353A	probably damaging	Het
Cabyr	A	G	18: 12,877,828 (GRCm39)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,584,733 (GRCm39)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,498,947 (GRCm39)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,573 (GRCm39)	I105V	probably benign	Het
Fras1	A	G	5: 96,900,763 (GRCm39)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,228,641 (GRCm39)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,139,911 (GRCm39)	Y164*	probably null	Het
Gm4353	T	G	7: 115,682,998 (GRCm39)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,413,085 (GRCm39)		probably null	Het
Ism2	T	A	12: 87,333,658 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,254,268 (GRCm39)	T196I	probably benign	Het
Lcor	T	G	19: 41,547,234 (GRCm39)	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lysmd4	T	A	7: 66,873,446 (GRCm39)	M27K	possibly damaging	Het
Muc17	G	A	5: 137,175,564 (GRCm39)		silent	Het
Or11h4b	A	T	14: 50,918,261 (GRCm39)	Y277N	probably damaging	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or5m10	A	G	2: 85,717,951 (GRCm39)	E269G	possibly damaging	Het
Oscp1	T	C	4: 125,958,774 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,549,913 (GRCm39)	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,062,677 (GRCm39)	G96R	possibly damaging	Het
Plcd3	G	C	11: 102,965,481 (GRCm39)	R535G	probably benign	Het
Plcg1	A	G	2: 160,596,523 (GRCm39)	M681V	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,575,022 (GRCm39)	D836E	probably benign	Het
Pramel12	T	C	4: 143,144,331 (GRCm39)	Y226H	possibly damaging	Het
Prkci	A	T	3: 31,104,362 (GRCm39)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,591,846 (GRCm39)	W276*	probably null	Het
Ptprn	T	C	1: 75,228,946 (GRCm39)	D823G	possibly damaging	Het
Radil	A	C	5: 142,529,303 (GRCm39)	F131C	probably damaging	Het
Rif1	A	G	2: 52,006,368 (GRCm39)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,361,713 (GRCm39)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,512,212 (GRCm39)	K561*	probably null	Het
Spata31g1	C	T	4: 42,970,171 (GRCm39)	Q53*	probably null	Het
Spata31g1	T	C	4: 42,971,095 (GRCm39)	S143P	probably benign	Het
Tbx5	A	C	5: 120,021,232 (GRCm39)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,480,963 (GRCm39)		probably null	Het
Tnfaip8l2	T	C	3: 95,047,307 (GRCm39)	*185W	probably null	Het
Tpst2	A	G	5: 112,457,560 (GRCm39)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,467,688 (GRCm39)	S801T	probably damaging	Het
Usp34	A	G	11: 23,332,638 (GRCm39)	S1141G		Het
Uts2r	A	G	11: 121,052,279 (GRCm39)	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,381,314 (GRCm39)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,801,884 (GRCm39)	M223K	probably benign	Het
Wdr64	T	C	1: 175,617,564 (GRCm39)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,208,081 (GRCm39)	F80S	possibly damaging	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
R5597:Prkag1	UTSW	15	98,713,789 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTCCGGATAGAGCAGGAGG -3'
(R):5'- TCATGCACACTGCCATGCTG -3'

Sequencing Primer
(F):5'- AGGAGGTGCTACGCTCAATCATC -3'
(R):5'- AGGCTGTCGTGAACTTAGACTC -3'

Posted On

2019-11-26