Mutagenetix > Incidental Mutation

Incidental Mutation 'R9124:Pck1'

693069

Institutional Source

Beutler Lab

Gene Symbol

Pck1

Ensembl Gene

ENSMUSG00000027513

Gene Name

phosphoenolpyruvate carboxykinase 1, cytosolic

Synonyms

Pck-1, PEPCK

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172994866-173001067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 172997018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 220 (A220G)

Ref Sequence

ENSEMBL: ENSMUSP00000029017 (fasta)

Gene Model

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

AlphaFold

Q9Z2V4

Predicted Effect

probably benign
Transcript: ENSMUST00000029017
AA Change: A220G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: A220G

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: 99.0%

Validation Efficiency

100% (91/91)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,792,679 (GRCm39)	N89K	possibly damaging	Het
Abca5	A	T	11: 110,189,005 (GRCm39)	D817E	possibly damaging	Het
Abca8b	G	A	11: 109,828,593 (GRCm39)	S1435F	probably damaging	Het
Akap9	T	C	5: 4,111,284 (GRCm39)	L3115P	probably damaging	Het
Arhgap39	G	A	15: 76,619,467 (GRCm39)	R706W	probably damaging	Het
Atp5mk	T	C	19: 47,074,578 (GRCm39)	M28V	probably benign	Het
BC061237	A	T	14: 44,740,851 (GRCm39)	I84F	possibly damaging	Het
Bhlhe22	T	C	3: 18,109,342 (GRCm39)	S131P	probably damaging	Het
Brinp1	C	A	4: 68,747,582 (GRCm39)	D174Y	probably damaging	Het
Bsdc1	A	G	4: 129,359,068 (GRCm39)	T40A	probably benign	Het
Ccdc65	A	T	15: 98,618,863 (GRCm39)	K281*	probably null	Het
Cd22	T	C	7: 30,572,662 (GRCm39)	I316V	probably benign	Het
Cdhr18	A	G	14: 13,864,354 (GRCm38)	F324S		Het
Cfap100	A	C	6: 90,386,330 (GRCm39)	I275S		Het
Chd3	T	G	11: 69,260,162 (GRCm39)	E19A	unknown	Het
Chrnb1	T	C	11: 69,685,057 (GRCm39)	D91G	probably benign	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Csmd1	A	G	8: 16,034,806 (GRCm39)	V2455A	probably damaging	Het
Dbp	C	T	7: 45,357,818 (GRCm39)	R229C	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah6	C	A	6: 73,098,882 (GRCm39)	V2058F	possibly damaging	Het
Dsp	T	A	13: 38,377,276 (GRCm39)	V1687D	probably benign	Het
Dtd1	T	A	2: 144,445,798 (GRCm39)	M45K	possibly damaging	Het
Fat1	T	A	8: 45,403,363 (GRCm39)	F38Y	probably benign	Het
Fat1	T	A	8: 45,478,064 (GRCm39)	V2370E	possibly damaging	Het
Fgfr1	T	A	8: 26,060,185 (GRCm39)	D438E	probably damaging	Het
Fsip2	A	T	2: 82,816,103 (GRCm39)	K3945N	probably benign	Het
Galc	C	A	12: 98,220,423 (GRCm39)		probably null	Het
Git1	C	A	11: 77,395,498 (GRCm39)	D398E	possibly damaging	Het
Gm4924	A	G	10: 82,214,875 (GRCm39)	Q891R	unknown	Het
Gpc2	T	C	5: 138,274,784 (GRCm39)		probably benign	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Herc2	A	G	7: 55,834,056 (GRCm39)	N3087S	probably damaging	Het
Ifi204	C	T	1: 173,579,193 (GRCm39)		probably null	Het
Imp4	C	T	1: 34,479,128 (GRCm39)	R4W	unknown	Het
Itfg2	A	G	6: 128,401,770 (GRCm39)	S3P	probably damaging	Het
Kcnn3	C	T	3: 89,428,536 (GRCm39)	T254I	possibly damaging	Het
Kics2	C	T	10: 121,586,416 (GRCm39)	Q244*	probably null	Het
Kpna1	A	G	16: 35,853,644 (GRCm39)	I425V	probably benign	Het
Krt23	A	T	11: 99,383,755 (GRCm39)	S46T	probably damaging	Het
Loxl4	C	A	19: 42,596,099 (GRCm39)	W118L	probably damaging	Het
Lrrc37	T	C	11: 103,509,721 (GRCm39)	Y749C	unknown	Het
Lysmd2	T	A	9: 75,533,075 (GRCm39)	L10Q	probably damaging	Het
Mcm5	T	A	8: 75,851,418 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,909,178 (GRCm39)	D45V	probably damaging	Het
Mdfic2	T	A	6: 98,318,899 (GRCm39)	N22I	possibly damaging	Het
Mfsd10	T	C	5: 34,791,940 (GRCm39)	T341A	probably benign	Het
Micu1	T	A	10: 59,586,335 (GRCm39)	L170Q	probably damaging	Het
Msantd5	T	C	11: 51,125,481 (GRCm39)	S135P	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Myo15a	A	T	11: 60,369,952 (GRCm39)	Q904L	probably benign	Het
Myo6	G	A	9: 80,195,353 (GRCm39)	D908N	unknown	Het
Nlrp4e	A	T	7: 23,020,403 (GRCm39)	M297L	probably benign	Het
Nptn	A	G	9: 58,558,498 (GRCm39)		probably benign	Het
Oas3	A	C	5: 120,912,170 (GRCm39)	D73E	probably damaging	Het
Or12j5	T	A	7: 140,084,222 (GRCm39)	H50L	probably benign	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or6n1	T	C	1: 173,917,341 (GRCm39)	L245P	probably damaging	Het
Pigq	G	A	17: 26,156,233 (GRCm39)	T65I	probably damaging	Het
Pld2	T	C	11: 70,431,696 (GRCm39)	F9L	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pnkd	A	G	1: 74,386,602 (GRCm39)	R138G	possibly damaging	Het
Ralgapa1	A	T	12: 55,781,881 (GRCm39)	I781N	probably damaging	Het
Ranbp2	A	G	10: 58,328,719 (GRCm39)	I2873V	probably benign	Het
Rpn2	C	A	2: 157,139,458 (GRCm39)	Q283K	probably benign	Het
Shmt2	A	G	10: 127,355,561 (GRCm39)	S178P	possibly damaging	Het
Shroom3	A	G	5: 93,112,401 (GRCm39)	K1921E	probably benign	Het
Slc20a1	A	G	2: 129,051,142 (GRCm39)	S600G	probably damaging	Het
Slco1a7	A	G	6: 141,668,830 (GRCm39)	V534A	possibly damaging	Het
Slit1	C	T	19: 41,594,951 (GRCm39)	V1140I	probably benign	Het
Sncg	T	C	14: 34,095,640 (GRCm39)	S51G	possibly damaging	Het
Spon2	C	A	5: 33,372,935 (GRCm39)	D256Y	possibly damaging	Het
Srcap	G	T	7: 127,159,874 (GRCm39)	R3250L	unknown	Het
Sun1	T	G	5: 139,231,121 (GRCm39)	Y763*	probably null	Het
Synj1	A	T	16: 90,735,513 (GRCm39)	F1480Y	probably benign	Het
Tbc1d30	T	A	10: 121,132,716 (GRCm39)	N216I	probably damaging	Het
Tent2	A	T	13: 93,284,160 (GRCm39)	L465*	probably null	Het
Tgfb1	A	T	7: 25,388,580 (GRCm39)	K39*	probably null	Het
Tmem87a	A	G	2: 120,224,841 (GRCm39)		probably null	Het
Tmem8b	C	A	4: 43,681,982 (GRCm39)	R452S	probably benign	Het
Tnfsf13b	A	G	8: 10,056,966 (GRCm39)	I42V	probably benign	Het
Trpc2	A	G	7: 101,745,090 (GRCm39)	T769A	possibly damaging	Het
Ttc3	A	G	16: 94,236,389 (GRCm39)	T1033A	probably benign	Het
Ttll13	C	T	7: 79,906,751 (GRCm39)	A473V	probably damaging	Het
U2surp	G	A	9: 95,346,468 (GRCm39)	R908*	probably null	Het
Ube2s	A	G	7: 4,814,510 (GRCm39)	Y17H	probably damaging	Het
Vmn1r94	A	T	7: 19,901,509 (GRCm39)	M265K	probably benign	Het
Vmn2r23	T	C	6: 123,719,038 (GRCm39)	I797T	possibly damaging	Het
Yipf3	A	T	17: 46,559,895 (GRCm39)	E70D	probably benign	Het
Zcchc14	G	A	8: 122,331,969 (GRCm39)	P465S	unknown	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp707	T	C	15: 75,845,468 (GRCm39)	S111P		Het
Zfp738	T	C	13: 67,819,457 (GRCm39)	E178G	possibly damaging	Het
Zfr	A	T	15: 12,136,757 (GRCm39)	N138I	unknown	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
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
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'- TTCCAGATCGAAGGTGGAGG -3'
(R):5'- AAATTTCCTCCCAGGGTTCC -3'

Sequencing Primer
(F):5'- CATGAGGCCCTGAGTTTGATCC -3'
(R):5'- GGGTTCCCTGACCACATAC -3'

Posted On

2022-01-20