Mutagenetix > Incidental Mutation

Incidental Mutation 'R1752:Pck1'

193588

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

Pck-1, PEPCK

MMRRC Submission

039784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1752 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172994866-173001067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172998906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 388 (N388S)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

AlphaFold

Q9Z2V4

Predicted Effect

probably benign
Transcript: ENSMUST00000029017
AA Change: N388S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: N388S

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Accsl	C	T	2: 93,688,375 (GRCm39)	G420S	probably damaging	Het
Adam29	A	G	8: 56,325,309 (GRCm39)	S382P	probably damaging	Het
Apob	T	C	12: 8,038,766 (GRCm39)	L393P	probably benign	Het
Arhgef19	T	G	4: 140,978,354 (GRCm39)	S616A	probably benign	Het
Atp11a	C	T	8: 12,863,094 (GRCm39)	T91I	probably damaging	Het
Ccdc88b	C	T	19: 6,830,690 (GRCm39)	V751I	probably benign	Het
Ccni	T	C	5: 93,350,315 (GRCm39)		probably benign	Het
Cd2	G	A	3: 101,183,511 (GRCm39)	A266V	probably benign	Het
Cd33	T	C	7: 43,181,722 (GRCm39)	D146G	probably benign	Het
Cdh16	A	G	8: 105,346,505 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,963,494 (GRCm39)		probably null	Het
Chd5	A	T	4: 152,459,590 (GRCm39)	I1109F	probably damaging	Het
Cir1	T	C	2: 73,140,882 (GRCm39)	E29G	probably damaging	Het
Clec5a	T	C	6: 40,559,187 (GRCm39)	T66A	probably damaging	Het
Cpa2	A	G	6: 30,552,023 (GRCm39)	D250G	probably damaging	Het
Crybg2	T	A	4: 133,800,961 (GRCm39)	L707H	probably damaging	Het
Csmd3	T	C	15: 47,523,669 (GRCm39)	T2646A	probably benign	Het
Cul7	G	A	17: 46,964,093 (GRCm39)	R390Q	probably benign	Het
Cyp2c69	T	A	19: 39,869,597 (GRCm39)	I141F	probably damaging	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Dclk2	C	T	3: 86,713,434 (GRCm39)	V470I	possibly damaging	Het
Dixdc1	A	G	9: 50,593,850 (GRCm39)	V530A	probably benign	Het
Dock7	A	G	4: 98,854,681 (GRCm39)	F1528L	probably damaging	Het
Edn1	T	A	13: 42,457,075 (GRCm39)	V36E	possibly damaging	Het
Eng	T	C	2: 32,563,404 (GRCm39)	V319A	probably benign	Het
Epb41l2	A	G	10: 25,336,690 (GRCm39)	K229E	probably damaging	Het
Fam184a	T	C	10: 53,550,666 (GRCm39)	N698S	probably benign	Het
Fndc7	T	C	3: 108,776,646 (GRCm39)	N465S	probably benign	Het
Fstl4	T	C	11: 53,077,622 (GRCm39)	V793A	probably benign	Het
Gm9797	A	T	10: 11,485,287 (GRCm39)		noncoding transcript	Het
Hsd17b4	T	C	18: 50,303,834 (GRCm39)	S436P	probably benign	Het
Itsn2	T	G	12: 4,761,950 (GRCm39)		probably null	Het
Kank3	T	C	17: 34,038,791 (GRCm39)	V570A	probably damaging	Het
Kif13a	A	T	13: 46,951,885 (GRCm39)	F733Y	probably damaging	Het
Kif16b	G	T	2: 142,532,586 (GRCm39)	D1184E	probably benign	Het
Kif20a	A	G	18: 34,764,634 (GRCm39)	D727G	possibly damaging	Het
Kif20b	T	A	19: 34,915,736 (GRCm39)	S504R	probably benign	Het
Lrrc37	T	C	11: 103,505,381 (GRCm39)	T2196A	possibly damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Luzp2	T	C	7: 54,914,088 (GRCm39)	S306P	possibly damaging	Het
Macf1	T	C	4: 123,377,465 (GRCm39)	I1490V	possibly damaging	Het
Manba	T	A	3: 135,212,706 (GRCm39)	W72R	probably damaging	Het
Mast1	A	G	8: 85,651,965 (GRCm39)	V339A	probably benign	Het
Mnx1	A	G	5: 29,682,727 (GRCm39)	S183P	unknown	Het
Muc5b	T	G	7: 141,421,488 (GRCm39)	L4326R	possibly damaging	Het
Myb	T	C	10: 21,032,336 (GRCm39)	D15G	possibly damaging	Het
Ncapg2	A	T	12: 116,390,338 (GRCm39)	D429V	probably damaging	Het
Neurod6	A	G	6: 55,656,511 (GRCm39)	V42A	probably benign	Het
Nfxl1	A	T	5: 72,698,218 (GRCm39)	C276S	probably damaging	Het
Nptx2	C	A	5: 144,492,171 (GRCm39)	T316N	probably damaging	Het
Nrp2	T	A	1: 62,777,600 (GRCm39)	F135Y	probably damaging	Het
Nxpe3	A	T	16: 55,686,837 (GRCm39)	F57Y	probably benign	Het
Or4c109	C	A	2: 88,817,659 (GRCm39)	A296S	possibly damaging	Het
Or51ag1	T	A	7: 103,155,765 (GRCm39)	R129S	probably benign	Het
Osbpl11	T	C	16: 33,025,205 (GRCm39)	Y144H	probably damaging	Het
Pax5	T	C	4: 44,609,729 (GRCm39)	Y233C	probably damaging	Het
Plcd3	T	A	11: 102,971,085 (GRCm39)	Q157L	probably benign	Het
Pnma2	A	C	14: 67,153,785 (GRCm39)	M70L	probably benign	Het
Pogk	T	C	1: 166,235,997 (GRCm39)	K35E	probably damaging	Het
Ptprb	T	A	10: 116,176,895 (GRCm39)	V1227E	probably benign	Het
Pygm	T	A	19: 6,441,064 (GRCm39)	V450E	probably damaging	Het
Rb1	T	A	14: 73,525,064 (GRCm39)	I190F	probably damaging	Het
Setd2	T	A	9: 110,423,673 (GRCm39)	Y2243N	probably damaging	Het
Slc11a2	A	T	15: 100,303,687 (GRCm39)	L182Q	probably damaging	Het
Slc45a3	T	C	1: 131,905,259 (GRCm39)	L94P	probably damaging	Het
Slc9a4	T	C	1: 40,668,421 (GRCm39)	F688S	probably benign	Het
Slit3	A	T	11: 35,455,480 (GRCm39)	I196F	probably damaging	Het
Sprn	G	A	7: 139,733,408 (GRCm39)		probably benign	Het
Spsb2	A	G	6: 124,787,292 (GRCm39)	D242G	probably benign	Het
Srpk2	A	G	5: 23,733,017 (GRCm39)	I111T	probably damaging	Het
St8sia4	T	A	1: 95,519,537 (GRCm39)	Y317F	probably benign	Het
Stat5a	T	A	11: 100,774,884 (GRCm39)	*798K	probably null	Het
Sult1c2	C	T	17: 54,271,777 (GRCm39)	V137M	possibly damaging	Het
Synj1	T	C	16: 90,735,361 (GRCm39)	T1531A	probably benign	Het
Tasor	T	A	14: 27,193,885 (GRCm39)	Y1028*	probably null	Het
Tax1bp1	A	G	6: 52,698,398 (GRCm39)	T37A	probably damaging	Het
Tet1	T	A	10: 62,648,768 (GRCm39)	D1888V	probably damaging	Het
Tln1	T	C	4: 43,536,311 (GRCm39)	T1994A	probably damaging	Het
Tmco3	A	C	8: 13,341,741 (GRCm39)	D5A	probably benign	Het
Tnk1	T	A	11: 69,747,532 (GRCm39)	N74I	possibly damaging	Het
Ttc16	A	T	2: 32,662,162 (GRCm39)	S120T	probably damaging	Het
Ttn	T	A	2: 76,774,448 (GRCm39)	T2153S	probably damaging	Het
Ttn	A	G	2: 76,594,606 (GRCm39)	V20480A	probably damaging	Het
Usp4	T	C	9: 108,251,441 (GRCm39)	Y539H	probably damaging	Het
Zar1	A	C	5: 72,734,715 (GRCm39)	V168G	probably damaging	Het
Zcchc9	T	C	13: 91,953,899 (GRCm39)	K119E	possibly damaging	Het
Zfp251	T	C	15: 76,737,863 (GRCm39)	N410S	possibly damaging	Het
Zfp605	A	T	5: 110,271,639 (GRCm39)	D10V	probably damaging	Het
Zyg11a	A	T	4: 108,062,479 (GRCm39)	N107K	possibly damaging	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
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
R7553:Pck1	UTSW	2	172,998,860 (GRCm39)	missense	probably benign	0.13
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'- TGGCACCTCAGTGAAGACAAATCC -3'
(R):5'- CAGCCTGAATAGAAGATGCCTCACC -3'

Sequencing Primer
(F):5'- TCAGTGAAGACAAATCCAAATGC -3'
(R):5'- TTCCCAGGCAGGGTCAATAATG -3'

Posted On

2014-05-23