Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Pck1'

507622

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

PEPCK, Pck-1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173153048-173159273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173157319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 426 (V426A)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

AlphaFold

Q9Z2V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029017
AA Change: V426A

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

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: V426A

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

Meta Mutation Damage Score

0.7720

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	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
R2883:Pck1	UTSW	2	173158575	missense	probably benign	0.03
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
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'- CACCTCCTGGAAGAACAAGGAG -3'
(R):5'- GGCTGGCCCTATGTTTAAAACTG -3'

Sequencing Primer
(F):5'- ACGGTGAGTCCCTCGAGAG -3'
(R):5'- GGCCCTATGTTTAAAACTGCCCAG -3'

Posted On

2018-03-15