Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Pck1'

379088

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

Pck-1, PEPCK

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172994866-173001067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172998816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 358 (T358I)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

AlphaFold

Q9Z2V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029017
AA Change: T358I

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

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: T358I

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

0.8068

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,422,350 (GRCm39)	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 59,887,957 (GRCm39)	E161G	probably benign	Het
Abcc5	A	G	16: 20,195,296 (GRCm39)	S734P	possibly damaging	Het
Actn1	T	G	12: 80,228,188 (GRCm39)	H394P	probably damaging	Het
Adam8	A	T	7: 139,569,286 (GRCm39)	D144E	probably benign	Het
Ankrd50	A	T	3: 38,510,824 (GRCm39)	N514K	probably damaging	Het
Ankrd50	T	A	3: 38,509,122 (GRCm39)	K1082*	probably null	Het
Atp4a	A	G	7: 30,418,517 (GRCm39)	I602V	possibly damaging	Het
Baz2a	A	G	10: 127,946,677 (GRCm39)	T64A	probably damaging	Het
Btbd19	A	G	4: 116,977,764 (GRCm39)		probably benign	Het
Casz1	T	A	4: 149,028,998 (GRCm39)	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,284,007 (GRCm39)	D103E	probably benign	Het
Cd209d	T	C	8: 3,927,948 (GRCm39)	N52S	probably benign	Het
Cdh20	T	A	1: 110,066,053 (GRCm39)	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,299,140 (GRCm39)	V101A	probably damaging	Het
Cldn22	T	C	8: 48,277,742 (GRCm39)	V60A	probably benign	Het
Clec10a	G	A	11: 70,060,797 (GRCm39)	G183D	probably benign	Het
Cnga3	T	C	1: 37,281,023 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,714,634 (GRCm39)	F224I	probably benign	Het
Dync2i2	A	G	2: 29,922,472 (GRCm39)		probably null	Het
Fbxo40	A	G	16: 36,790,064 (GRCm39)	Y349H	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gm10029	A	T	13: 6,712,592 (GRCm39)		noncoding transcript	Het
Gm14399	T	A	2: 174,973,182 (GRCm39)		probably benign	Het
Gm9932	T	C	5: 100,347,014 (GRCm39)		noncoding transcript	Het
Immp1l	A	G	2: 105,767,462 (GRCm39)	Y107C	probably damaging	Het
Ism1	G	T	2: 139,520,672 (GRCm39)	G28V	probably benign	Het
Klf1	C	A	8: 85,629,814 (GRCm39)	S213*	probably null	Het
Krt12	T	C	11: 99,309,188 (GRCm39)	E329G	probably damaging	Het
Lama2	A	T	10: 27,040,942 (GRCm39)	N1460K	probably benign	Het
Llgl2	T	A	11: 115,744,800 (GRCm39)	Y932*	probably null	Het
Lrrc7	T	C	3: 157,866,877 (GRCm39)	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,312,899 (GRCm39)	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,329,275 (GRCm39)	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,811,677 (GRCm39)		noncoding transcript	Het
Mical3	T	A	6: 120,984,259 (GRCm39)	M206L	probably benign	Het
Mndal	T	G	1: 173,690,256 (GRCm39)	N358T	probably damaging	Het
Nckap5	A	G	1: 125,953,889 (GRCm39)	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,573,554 (GRCm39)		probably benign	Het
Nfatc3	C	A	8: 106,806,359 (GRCm39)	H401Q	probably damaging	Het
Npas2	T	C	1: 39,401,066 (GRCm39)	V810A	unknown	Het
Nt5c2	A	G	19: 46,884,978 (GRCm39)	V245A	possibly damaging	Het
Or1j4	A	T	2: 36,740,270 (GRCm39)	I71F	probably benign	Het
Or4d5	A	T	9: 40,011,955 (GRCm39)	M277K	probably benign	Het
Or51ah3	A	G	7: 103,210,241 (GRCm39)	M186V	possibly damaging	Het
Or52h9	A	G	7: 104,202,518 (GRCm39)	R131G	probably damaging	Het
Or5b109	A	G	19: 13,212,157 (GRCm39)	D181G	probably damaging	Het
Otof	A	T	5: 30,536,005 (GRCm39)		probably null	Het
Pclo	T	C	5: 14,730,065 (GRCm39)		probably benign	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pgr	G	A	9: 8,947,044 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,367,475 (GRCm39)	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,142,581 (GRCm39)	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,279,450 (GRCm39)	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,390,703 (GRCm39)		probably null	Het
Rgs22	T	A	15: 36,087,570 (GRCm39)	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,732,051 (GRCm39)	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,503,505 (GRCm39)	L393P	probably damaging	Het
Snw1	T	C	12: 87,506,259 (GRCm39)	I214V	probably benign	Het
Sorbs1	G	A	19: 40,328,491 (GRCm39)	Q595*	probably null	Het
Spata21	T	A	4: 140,824,432 (GRCm39)		probably null	Het
Ss18l1	G	T	2: 179,705,192 (GRCm39)		probably null	Het
Tmem163	A	T	1: 127,447,107 (GRCm39)	L176H	probably damaging	Het
Tpd52	T	C	3: 9,009,668 (GRCm39)		probably null	Het
Tpsab1	T	A	17: 25,562,436 (GRCm39)	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,728,538 (GRCm39)	T450A	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Txndc11	A	T	16: 10,906,398 (GRCm39)	H377Q	probably benign	Het
Usp17la	A	G	7: 104,510,355 (GRCm39)	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,770,348 (GRCm39)	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Wdr33	T	C	18: 32,040,046 (GRCm39)	*1331Q	probably null	Het
Wdr90	T	A	17: 26,079,624 (GRCm39)		probably benign	Het
Xpo7	T	C	14: 70,908,069 (GRCm39)	M903V	probably benign	Het
Zfhx3	T	A	8: 109,519,986 (GRCm39)	S369R	probably damaging	Het
Zfp808	T	C	13: 62,319,287 (GRCm39)	F172S	possibly damaging	Het
Zfp821	A	G	8: 110,450,625 (GRCm39)	E55G	probably benign	Het
Zfp964	T	C	8: 70,115,972 (GRCm39)	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,621,646 (GRCm39)	T250A	probably 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
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
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'- CTAGCCTGGCAAAGCTTTAAGAAC -3'
(R):5'- ATGGTTCCGCTGCAAGAGAG -3'

Sequencing Primer
(F):5'- CCTGGCAAAGCTTTAAGAACTCTGG -3'
(R):5'- GAGAGATACCCCTTAGCATGGC -3'

Posted On

2016-04-15