Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Prkag1'

695876

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

068975-MU

Accession Numbers

Essential gene?

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

Stock #

R9163 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

98710678-98729354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98711900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 242 (K242R)

Ref Sequence

ENSEMBL: ENSMUSP00000132499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168846] [ENSMUST00000229297] [ENSMUST00000230409] [ENSMUST00000230560]

AlphaFold

O54950

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168846
AA Change: K242R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: K242R

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 benign
Transcript: ENSMUST00000229297

Predicted Effect

probably benign
Transcript: ENSMUST00000230409

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230560
AA Change: K211R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,393,400 (GRCm39)	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,777,174 (GRCm39)	S128P	probably benign	Het
Adam17	C	T	12: 21,401,588 (GRCm39)	V136I	probably benign	Het
Adam19	A	G	11: 46,018,176 (GRCm39)	T413A	probably benign	Het
Adam28	T	C	14: 68,866,531 (GRCm39)	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,567,541 (GRCm39)	T5211S	probably benign	Het
Adnp2	A	T	18: 80,172,200 (GRCm39)	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,884 (GRCm39)	W1082*	probably null	Het
Ap3b2	T	G	7: 81,113,546 (GRCm39)	M888L	unknown	Het
Arhgap35	C	A	7: 16,295,549 (GRCm39)	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 81,041,506 (GRCm39)	D402E	probably benign	Het
Ccdc14	T	C	16: 34,511,118 (GRCm39)	F31L	possibly damaging	Het
Cd5l	T	G	3: 87,274,932 (GRCm39)	L157R	probably benign	Het
Cdc14a	G	T	3: 116,122,213 (GRCm39)	D251E	possibly damaging	Het
Cfap210	A	T	2: 69,606,510 (GRCm39)	I302K	probably benign	Het
Chmp2a	T	A	7: 12,766,645 (GRCm39)	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,548,729 (GRCm39)		probably null	Het
Ctdsp1	G	T	1: 74,434,126 (GRCm39)	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,342,198 (GRCm39)	R40H	probably damaging	Het
Dnph1	A	G	17: 46,809,860 (GRCm39)	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,253,301 (GRCm39)	V488D	probably benign	Het
Gcn1	C	A	5: 115,742,944 (GRCm39)	N1538K	probably benign	Het
Gldc	T	A	19: 30,111,686 (GRCm39)	E500V	probably benign	Het
Hhip	G	A	8: 80,701,743 (GRCm39)	T597I	probably benign	Het
Hmgn1	A	G	16: 95,928,509 (GRCm39)		probably null	Het
Ifi205	A	T	1: 173,844,988 (GRCm39)	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,753 (GRCm39)	M2V	probably benign	Het
Irgm2	T	G	11: 58,111,280 (GRCm39)	S324A	probably damaging	Het
Jarid2	C	G	13: 45,064,727 (GRCm39)	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,404 (GRCm39)	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584 (GRCm39)	I319M	probably benign	Het
Klhl7	T	C	5: 24,364,465 (GRCm39)	Y500H	probably damaging	Het
Lats1	C	T	10: 7,578,052 (GRCm39)	A392V	probably benign	Het
Llgl1	G	T	11: 60,600,402 (GRCm39)	A584S	probably benign	Het
Macf1	G	T	4: 123,403,686 (GRCm39)	S560Y	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or8c10	T	A	9: 38,279,378 (GRCm39)	C169S	probably damaging	Het
Pde10a	G	A	17: 9,181,791 (GRCm39)	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,659,123 (GRCm39)		probably null	Het
Pdhx	G	A	2: 102,852,561 (GRCm39)	P434L	probably damaging	Het
Pdlim3	T	C	8: 46,338,711 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,427,483 (GRCm39)		probably null	Het
Rap1b	A	G	10: 117,654,391 (GRCm39)	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,217,076 (GRCm39)	S1102P	probably damaging	Het
Scrib	A	G	15: 75,921,108 (GRCm39)	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,578 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,425,444 (GRCm39)	V380A	probably damaging	Het
Slc5a4b	G	T	10: 75,917,165 (GRCm39)	Y290*	probably null	Het
Slco4c1	A	G	1: 96,764,633 (GRCm39)	F480L	probably damaging	Het
Srcap	T	C	7: 127,121,162 (GRCm39)	V146A	unknown	Het
Ssc5d	T	A	7: 4,936,432 (GRCm39)	D559E	probably damaging	Het
Sstr5	A	C	17: 25,710,584 (GRCm39)	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,212,634 (GRCm39)	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,560,809 (GRCm39)		probably benign	Het
Sycp3	T	C	10: 88,299,734 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,009,349 (GRCm39)	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,473,080 (GRCm39)	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,869,570 (GRCm39)	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,172,130 (GRCm39)	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,205,767 (GRCm39)	R802G	probably benign	Het
Trmu	T	C	15: 85,781,096 (GRCm39)	V360A	probably benign	Het
Tshz2	G	A	2: 169,726,562 (GRCm39)	C386Y	probably damaging	Het
Ttn	A	T	2: 76,700,771 (GRCm39)	D61E		Het
Upf1	T	C	8: 70,792,674 (GRCm39)	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,718,782 (GRCm39)	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,371,091 (GRCm39)	V652I	probably benign	Het
Wfdc1	T	C	8: 120,393,302 (GRCm39)	V8A	probably benign	Het
Xrn1	A	G	9: 95,880,274 (GRCm39)	Y738C	probably benign	Het
Zfp618	T	G	4: 63,051,511 (GRCm39)	V764G	probably damaging	Het
Znfx1	A	T	2: 166,898,261 (GRCm39)	M221K	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GCTCCTTAGCTCTGCTCACAAG -3'
(R):5'- TGGGCATCTTTGTACAGCACC -3'

Sequencing Primer
(F):5'- AGCCCACAGTTCTGTCAGC -3'
(R):5'- GCATCTTTGTACAGCACCGAGTC -3'

Posted On

2022-02-07