Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Pck1'

584529

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

Pck-1, PEPCK

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172994866-173001067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172998860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 373 (I373V)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

AlphaFold

Q9Z2V4

Predicted Effect

probably benign
Transcript: ENSMUST00000029017
AA Change: I373V

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: I373V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348 (GRCm39)	Q292L	probably benign	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,881 (GRCm39)	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Nup205	G	T	6: 35,178,934 (GRCm39)	R668L	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,154,539 (GRCm39)	D122G	probably benign	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vil1	G	A	1: 74,465,891 (GRCm39)		probably null	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	probably null	Het

Other mutations in Pck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Pck1	APN	2	172,995,911 (GRCm39)	critical splice donor site	probably null
IGL00817:Pck1	APN	2	172,995,225 (GRCm39)	missense	possibly damaging	0.47
IGL02476:Pck1	APN	2	173,000,075 (GRCm39)	missense	probably benign
IGL02803:Pck1	APN	2	172,997,797 (GRCm39)	missense	probably damaging	1.00
IGL02874:Pck1	APN	2	172,997,042 (GRCm39)	missense	probably damaging	1.00
IGL02886:Pck1	APN	2	172,996,649 (GRCm39)	missense	probably benign	0.43
Limestone	UTSW	2	173,000,353 (GRCm39)	missense	probably damaging	1.00
limpet	UTSW	2	172,995,805 (GRCm39)	missense	probably damaging	0.99
R0041:Pck1	UTSW	2	172,997,003 (GRCm39)	missense	probably benign	0.21
R0125:Pck1	UTSW	2	172,997,874 (GRCm39)	nonsense	probably null
R0238:Pck1	UTSW	2	172,998,861 (GRCm39)	missense	possibly damaging	0.91
R0238:Pck1	UTSW	2	172,998,861 (GRCm39)	missense	possibly damaging	0.91
R0373:Pck1	UTSW	2	172,995,183 (GRCm39)	start codon destroyed	probably null	0.99
R0595:Pck1	UTSW	2	172,998,822 (GRCm39)	missense	probably damaging	1.00
R1338:Pck1	UTSW	2	173,000,203 (GRCm39)	missense	probably benign	0.18
R1623:Pck1	UTSW	2	172,996,511 (GRCm39)	missense	probably benign	0.26
R1752:Pck1	UTSW	2	172,998,906 (GRCm39)	missense	probably benign	0.00
R2107:Pck1	UTSW	2	172,995,861 (GRCm39)	missense	probably benign	0.00
R2376:Pck1	UTSW	2	172,998,909 (GRCm39)	missense	probably benign
R2883:Pck1	UTSW	2	173,000,368 (GRCm39)	missense	probably benign	0.03
R3508:Pck1	UTSW	2	173,000,177 (GRCm39)	missense	possibly damaging	0.61
R4718:Pck1	UTSW	2	172,997,014 (GRCm39)	missense	probably damaging	0.99
R4853:Pck1	UTSW	2	172,996,507 (GRCm39)	nonsense	probably null
R4907:Pck1	UTSW	2	172,998,816 (GRCm39)	missense	probably damaging	1.00
R4950:Pck1	UTSW	2	172,996,620 (GRCm39)	missense	probably benign
R5073:Pck1	UTSW	2	172,998,770 (GRCm39)	missense	probably benign	0.41
R5134:Pck1	UTSW	2	172,995,282 (GRCm39)	missense	probably benign	0.23
R5213:Pck1	UTSW	2	172,997,878 (GRCm39)	nonsense	probably null
R5244:Pck1	UTSW	2	172,996,656 (GRCm39)	missense	possibly damaging	0.91
R5654:Pck1	UTSW	2	173,000,353 (GRCm39)	missense	probably damaging	1.00
R5831:Pck1	UTSW	2	172,998,792 (GRCm39)	missense	probably damaging	1.00
R6030:Pck1	UTSW	2	172,996,650 (GRCm39)	missense	probably benign	0.40
R6030:Pck1	UTSW	2	172,996,650 (GRCm39)	missense	probably benign	0.40
R6143:Pck1	UTSW	2	172,995,805 (GRCm39)	missense	probably damaging	0.99
R6276:Pck1	UTSW	2	172,999,112 (GRCm39)	missense	probably damaging	1.00
R7860:Pck1	UTSW	2	172,997,743 (GRCm39)	missense	possibly damaging	0.80
R8076:Pck1	UTSW	2	172,997,071 (GRCm39)	missense	probably damaging	1.00
R8187:Pck1	UTSW	2	172,997,033 (GRCm39)	missense	probably benign	0.23
R8523:Pck1	UTSW	2	172,999,064 (GRCm39)	missense	probably damaging	1.00
R8729:Pck1	UTSW	2	172,997,866 (GRCm39)	missense	probably damaging	1.00
R8982:Pck1	UTSW	2	172,999,112 (GRCm39)	missense	probably damaging	1.00
R9124:Pck1	UTSW	2	172,997,018 (GRCm39)	missense	probably benign	0.01
R9245:Pck1	UTSW	2	172,996,569 (GRCm39)	missense	probably damaging	1.00
R9520:Pck1	UTSW	2	172,997,854 (GRCm39)	missense	probably damaging	1.00
R9705:Pck1	UTSW	2	173,000,170 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGCTTGGCTTGCATTCATAC -3'
(R):5'- GGTGCAGAATCTCGAGTTGG -3'

Sequencing Primer
(F):5'- GGCTTGCATTCATACCTCCTTC -3'
(R):5'- AATCTCGAGTTGGGATGGGCAC -3'

Posted On

2019-10-17