Mutagenetix > Incidental Mutations

Incidental Mutation 'R4950:Pck1'

381902

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

PEPCK, Pck-1

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173153048-173159273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173154827 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 178 (I178K)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029017
AA Change: I178K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: I178K

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,311,659	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACCATTAGGAGGAGGAGCC -3'
(R):5'- AGGCTCTGCAAACAAGCAAG -3'

Sequencing Primer
(F):5'- AGCCGAGGATGCTCAGTG -3'
(R):5'- TGTCTGGGATCAAACTCAGGGC -3'

Posted On

2016-04-27