Mutagenetix > Incidental Mutation

Incidental Mutation 'R5213:Pck1'

403242

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

Pck-1, PEPCK

MMRRC Submission

042854-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172994866-173001067 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 172997878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 316 (K316*)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

AlphaFold

Q9Z2V4

Predicted Effect

probably null
Transcript: ENSMUST00000029017
AA Change: K316*

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: K316*

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,303,865 (GRCm39)	H1342N	possibly damaging	Het
Adcy2	G	T	13: 68,768,942 (GRCm39)	T1062K	possibly damaging	Het
Aqr	T	C	2: 113,943,808 (GRCm39)	N1110S	probably damaging	Het
Atp10a	C	T	7: 58,423,731 (GRCm39)	T232I	probably damaging	Het
Atp5pb	T	A	3: 105,863,227 (GRCm39)	K70*	probably null	Het
Atp8b4	A	C	2: 126,231,329 (GRCm39)		probably null	Het
Atraid	A	C	5: 31,209,552 (GRCm39)	Q72P	probably damaging	Het
Atxn2	G	T	5: 121,952,543 (GRCm39)		probably null	Het
Best3	A	T	10: 116,860,377 (GRCm39)	T546S	probably benign	Het
Brd3	T	C	2: 27,353,960 (GRCm39)	K51E	possibly damaging	Het
Brip1	A	G	11: 86,034,147 (GRCm39)	S525P	possibly damaging	Het
Cenpf	A	G	1: 189,387,177 (GRCm39)	I1701T	probably benign	Het
Chrna9	A	T	5: 66,128,427 (GRCm39)	K208*	probably null	Het
Clec2l	T	A	6: 38,657,127 (GRCm39)	C197S	probably damaging	Het
Crp	A	G	1: 172,526,086 (GRCm39)	H57R	probably benign	Het
Cyp27b1	C	A	10: 126,887,964 (GRCm39)	T492N	probably damaging	Het
Dock4	A	T	12: 40,726,741 (GRCm39)	I340F	probably damaging	Het
Dsg1b	A	T	18: 20,528,987 (GRCm39)	D241V	probably damaging	Het
Epg5	G	T	18: 78,058,049 (GRCm39)	V1865L	probably benign	Het
Erap1	A	G	13: 74,819,614 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,144,658 (GRCm39)	C4072Y	probably benign	Het
Fat4	T	A	3: 39,034,340 (GRCm39)	I2664N	possibly damaging	Het
Gabrp	A	G	11: 33,517,211 (GRCm39)		probably null	Het
Glis2	G	T	16: 4,431,946 (GRCm39)		probably benign	Het
Gm17654	A	G	14: 43,816,559 (GRCm39)	S15P	probably damaging	Het
Gm21836	A	G	9: 124,252,736 (GRCm39)	V14A	unknown	Het
Gon7	G	A	12: 102,720,380 (GRCm39)	T84I	possibly damaging	Het
Greb1	G	T	12: 16,764,791 (GRCm39)	Y447*	probably null	Het
Grip2	A	T	6: 91,756,812 (GRCm39)	D546E	probably benign	Het
Hectd1	A	G	12: 51,849,316 (GRCm39)		probably null	Het
Il36a	T	A	2: 24,114,486 (GRCm39)	F120L	probably damaging	Het
Itga4	T	C	2: 79,150,920 (GRCm39)	V842A	probably benign	Het
Khsrp	G	A	17: 57,331,366 (GRCm39)	A404V	probably benign	Het
Map3k11	T	C	19: 5,740,669 (GRCm39)	V132A	probably damaging	Het
Mcub	A	C	3: 129,710,646 (GRCm39)	F262C	probably benign	Het
Msantd5f6	G	T	4: 73,319,571 (GRCm39)	Q302K	probably damaging	Het
Mysm1	A	T	4: 94,836,614 (GRCm39)	V732E	probably damaging	Het
Npr2	T	A	4: 43,640,673 (GRCm39)		probably null	Het
Or10d5	A	C	9: 39,861,389 (GRCm39)	I226S	probably damaging	Het
Or12d12	T	C	17: 37,610,942 (GRCm39)	I124V	probably damaging	Het
Or5k1b	T	C	16: 58,580,984 (GRCm39)	Y185C	probably damaging	Het
Oxgr1	G	T	14: 120,259,552 (GRCm39)	Y218*	probably null	Het
Paf1	A	G	7: 28,095,397 (GRCm39)	Q161R	possibly damaging	Het
Plac8	T	A	5: 100,704,371 (GRCm39)	M109L	probably benign	Het
Plagl2	A	T	2: 153,074,239 (GRCm39)	C221S	probably damaging	Het
Polg	T	C	7: 79,103,846 (GRCm39)	D870G	probably damaging	Het
Polr2k	T	A	15: 36,175,143 (GRCm39)	M1K	probably null	Het
Prdm9	T	C	17: 15,775,416 (GRCm39)	H276R	probably damaging	Het
Resf1	C	A	6: 149,227,551 (GRCm39)	P199Q	possibly damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Serpina3i	A	G	12: 104,231,914 (GRCm39)	I184V	probably benign	Het
Shank3	A	G	15: 89,417,481 (GRCm39)	E26G	possibly damaging	Het
Skil	T	C	3: 31,171,600 (GRCm39)	S575P	probably damaging	Het
Slc13a1	A	G	6: 24,108,158 (GRCm39)	L306P	probably damaging	Het
Slc20a1	G	T	2: 129,042,429 (GRCm39)	W166L	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snrnp200	G	T	2: 127,073,661 (GRCm39)	G1353V	probably damaging	Het
Spata6l	A	T	19: 28,940,964 (GRCm39)	V50E	probably benign	Het
Sphkap	A	G	1: 83,258,224 (GRCm39)	I173T	probably damaging	Het
Stab2	A	T	10: 86,743,061 (GRCm39)	F1183I	probably damaging	Het
Stard9	A	G	2: 120,529,707 (GRCm39)	D1988G	probably damaging	Het
Tank	T	A	2: 61,480,292 (GRCm39)	I276N	probably benign	Het
Tcaf3	A	G	6: 42,568,401 (GRCm39)	W652R	probably damaging	Het
Tgm2	G	A	2: 157,984,980 (GRCm39)	T42I	possibly damaging	Het
Tnni2	G	T	7: 141,997,039 (GRCm39)		probably null	Het
Tns1	A	G	1: 73,992,771 (GRCm39)	S9P	probably damaging	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Trdv2-1	T	C	14: 54,183,863 (GRCm39)	S32P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Trpm3	T	G	19: 22,674,818 (GRCm39)	Y72*	probably null	Het
Ube2o	G	A	11: 116,432,285 (GRCm39)	P894S	possibly damaging	Het
Ubr4	C	T	4: 139,129,877 (GRCm39)	R666*	probably null	Het
Ugt1a8	T	A	1: 88,015,845 (GRCm39)	L86*	probably null	Het
Usp32	T	A	11: 84,913,085 (GRCm39)	N941I	probably damaging	Het
Utrn	C	T	10: 12,512,504 (GRCm39)	V2322M	probably damaging	Het
Vmn1r184	A	T	7: 25,967,136 (GRCm39)	Y294F	probably damaging	Het
Vmn2r108	T	C	17: 20,691,755 (GRCm39)	N256S	probably benign	Het
Wdr7	T	C	18: 63,888,197 (GRCm39)	S557P	probably damaging	Het
Xrra1	C	A	7: 99,547,690 (GRCm39)	P293Q	possibly damaging	Het
Zc3h18	A	G	8: 123,110,388 (GRCm39)	D79G	probably damaging	Het
Zfp74	A	T	7: 29,634,668 (GRCm39)	Y347N	probably damaging	Het
Zfp740	T	C	15: 102,121,082 (GRCm39)	C169R	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
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
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'- GACACTAAAGCTGATCCCGTC -3'
(R):5'- CAAACATGGATCTGTGCAAGC -3'

Sequencing Primer
(F):5'- TAAAGCTGATCCCGTCCATCC -3'
(R):5'- TGGATCTGTGCAAGCAAACAGC -3'

Posted On

2016-07-22