Mutagenetix > Incidental Mutation

Incidental Mutation 'R2883:Pck1'

260903

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

PEPCK, Pck-1

MMRRC Submission

040471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173153048-173159273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173158575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 600 (V600I)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029017]

AlphaFold

Q9Z2V4

Predicted Effect

probably benign
Transcript: ENSMUST00000029017
AA Change: V600I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: V600I

Domain	Start	End	E-Value	Type
Pfam:PEPCK	29	619	3.2e-275	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151269

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	C	A	17: 47,436,725	V32F	probably damaging	Het
1700018B08Rik	G	A	8: 121,539,905	P81S	probably damaging	Het
Arhgef10l	T	C	4: 140,516,802	Q790R	probably benign	Het
Asic2	T	A	11: 80,894,013	I367F	possibly damaging	Het
Asxl2	T	C	12: 3,501,830	S1191P	probably benign	Het
Bod1l	A	G	5: 41,832,259	S374P	probably benign	Het
C1qtnf7	T	A	5: 43,615,880	F167I	probably damaging	Het
Col13a1	A	G	10: 61,978,356	L94P	probably benign	Het
Cped1	A	T	6: 22,143,979	T575S	probably damaging	Het
Cpt1b	T	C	15: 89,417,869	Y702C	probably benign	Het
D630039A03Rik	T	A	4: 57,910,560	N84I	probably damaging	Het
Dse	A	T	10: 34,152,507	D862E	probably benign	Het
Etl4	A	T	2: 20,806,174	T1023S	possibly damaging	Het
Fat4	T	A	3: 38,980,804	N2868K	probably damaging	Het
Fgd5	G	A	6: 91,987,109		probably null	Het
Fsip2	C	T	2: 82,991,524	T5867I	possibly damaging	Het
Fuca2	A	G	10: 13,505,951	T203A	probably benign	Het
Gli2	T	C	1: 118,868,144	I131V	probably damaging	Het
Gtpbp4	A	G	13: 8,990,723	V122A	possibly damaging	Het
Kif1b	G	A	4: 149,237,648	T938I	possibly damaging	Het
Klhl29	T	C	12: 5,084,036	D767G	probably damaging	Het
Mageb3	A	G	2: 121,954,366	V285A	probably benign	Het
Myoc	A	G	1: 162,639,616	E118G	possibly damaging	Het
Nedd1	A	C	10: 92,694,998	F410V	probably damaging	Het
Nipal1	A	T	5: 72,667,730	K255N	probably damaging	Het
Npr3	T	C	15: 11,883,324	K340E	possibly damaging	Het
Obsl1	C	A	1: 75,496,511	G1023C	possibly damaging	Het
Ogdh	T	C	11: 6,334,545	L188P	probably damaging	Het
Olfr110	C	T	17: 37,499,380	S243F	probably damaging	Het
Olfr1500	T	A	19: 13,827,875	I174F	probably damaging	Het
Olfr616	T	C	7: 103,565,264	N5S	probably benign	Het
Otogl	G	A	10: 107,768,981	T2188M	probably damaging	Het
Ranbp17	A	G	11: 33,504,708	C42R	probably damaging	Het
Rapgef4	G	A	2: 72,031,125	R53H	probably benign	Het
Rbm12	G	A	2: 156,097,075	H426Y	probably damaging	Het
Retreg2	C	T	1: 75,146,712	P428L	probably benign	Het
Rev3l	G	T	10: 39,825,156	S1883I	probably damaging	Het
Rinl	CGGG	CGGGGG	7: 28,797,658		probably null	Het
Rora	T	C	9: 69,375,435	S356P	probably damaging	Het
Slc31a1	T	C	4: 62,388,771	V188A	probably damaging	Het
Slc9a3	A	G	13: 74,158,760	K335E	probably damaging	Het
Spata22	C	A	11: 73,344,678	H274N	possibly damaging	Het
Srrm1	T	C	4: 135,321,411		probably benign	Het
Stab2	A	T	10: 86,967,686	I333N	possibly damaging	Het
Supt5	A	G	7: 28,329,320	Y153H	possibly damaging	Het
Tyk2	T	C	9: 21,110,587	T825A	probably benign	Het
Usp20	G	A	2: 31,018,800	V798M	probably benign	Het
Wdr26	A	T	1: 181,211,120	D102E	probably damaging	Het

Other mutations in Pck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Pck1	APN	2	173154118	critical splice donor site	probably null
IGL00817:Pck1	APN	2	173153432	missense	possibly damaging	0.47
IGL02476:Pck1	APN	2	173158282	missense	probably benign
IGL02803:Pck1	APN	2	173156004	missense	probably damaging	1.00
IGL02874:Pck1	APN	2	173155249	missense	probably damaging	1.00
IGL02886:Pck1	APN	2	173154856	missense	probably benign	0.43
Limestone	UTSW	2	173158560	missense	probably damaging	1.00
limpet	UTSW	2	173154012	missense	probably damaging	0.99
R0041:Pck1	UTSW	2	173155210	missense	probably benign	0.21
R0125:Pck1	UTSW	2	173156081	nonsense	probably null
R0238:Pck1	UTSW	2	173157068	missense	possibly damaging	0.91
R0238:Pck1	UTSW	2	173157068	missense	possibly damaging	0.91
R0373:Pck1	UTSW	2	173153390	start codon destroyed	probably null	0.99
R0595:Pck1	UTSW	2	173157029	missense	probably damaging	1.00
R1338:Pck1	UTSW	2	173158410	missense	probably benign	0.18
R1623:Pck1	UTSW	2	173154718	missense	probably benign	0.26
R1752:Pck1	UTSW	2	173157113	missense	probably benign	0.00
R2107:Pck1	UTSW	2	173154068	missense	probably benign	0.00
R2376:Pck1	UTSW	2	173157116	missense	probably benign
R3508:Pck1	UTSW	2	173158384	missense	possibly damaging	0.61
R4718:Pck1	UTSW	2	173155221	missense	probably damaging	0.99
R4853:Pck1	UTSW	2	173154714	nonsense	probably null
R4907:Pck1	UTSW	2	173157023	missense	probably damaging	1.00
R4950:Pck1	UTSW	2	173154827	missense	probably benign
R5073:Pck1	UTSW	2	173156977	missense	probably benign	0.41
R5134:Pck1	UTSW	2	173153489	missense	probably benign	0.23
R5213:Pck1	UTSW	2	173156085	nonsense	probably null
R5244:Pck1	UTSW	2	173154863	missense	possibly damaging	0.91
R5654:Pck1	UTSW	2	173158560	missense	probably damaging	1.00
R5831:Pck1	UTSW	2	173156999	missense	probably damaging	1.00
R6030:Pck1	UTSW	2	173154857	missense	probably benign	0.40
R6030:Pck1	UTSW	2	173154857	missense	probably benign	0.40
R6143:Pck1	UTSW	2	173154012	missense	probably damaging	0.99
R6276:Pck1	UTSW	2	173157319	missense	probably damaging	1.00
R7553:Pck1	UTSW	2	173157067	missense	probably benign	0.13
R7860:Pck1	UTSW	2	173155950	missense	possibly damaging	0.80
R8076:Pck1	UTSW	2	173155278	missense	probably damaging	1.00
R8187:Pck1	UTSW	2	173155240	missense	probably benign	0.23
R8523:Pck1	UTSW	2	173157271	missense	probably damaging	1.00
R8729:Pck1	UTSW	2	173156073	missense	probably damaging	1.00
R8982:Pck1	UTSW	2	173157319	missense	probably damaging	1.00
R9124:Pck1	UTSW	2	173155225	missense	probably benign	0.01
R9245:Pck1	UTSW	2	173154776	missense	probably damaging	1.00
R9520:Pck1	UTSW	2	173156061	missense	probably damaging	1.00
R9705:Pck1	UTSW	2	173158377	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GACAAAGATGGCAAGTTCCTCTG -3'
(R):5'- CGCTATCTCAAAGCTGGAGC -3'

Sequencing Primer
(F):5'- AGGCTTTGGCGAGAACTC -3'
(R):5'- TATCTCAAAGCTGGAGCAGGCTG -3'

Posted On

2015-01-23