Mutagenetix > Incidental Mutation

Incidental Mutation 'R9257:Pck2'

701969

Institutional Source

Beutler Lab

Gene Symbol

Pck2

Ensembl Gene

ENSMUSG00000040618

Gene Name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Synonyms

1810010O14Rik, 9130022B02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R9257 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55777721-55787477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55782702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 379 (G379W)

Ref Sequence

ENSEMBL: ENSMUSP00000038555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048781] [ENSMUST00000226352] [ENSMUST00000226519] [ENSMUST00000228240]

AlphaFold

Q8BH04

Predicted Effect

probably damaging
Transcript: ENSMUST00000048781
AA Change: G379W

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

SMART Domains

Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: G379W

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:PEPCK	73	664	1.9e-276	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226352
AA Change: G352W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226519
AA Change: G352W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228240
AA Change: G344W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228921

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,315,627 (GRCm39)	D17V	probably benign	Het
9130401M01Rik	A	C	15: 57,892,414 (GRCm39)	H128Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,315 (GRCm39)	Y166C	possibly damaging	Het
Adamtsl4	C	A	3: 95,588,575 (GRCm39)	V546F	probably damaging	Het
Als2cl	T	A	9: 110,723,755 (GRCm39)	V717E	probably damaging	Het
Atm	A	G	9: 53,407,150 (GRCm39)		probably null	Het
Atp2c1	C	A	9: 105,291,851 (GRCm39)	E904*	probably null	Het
Ccdc88c	G	A	12: 100,889,474 (GRCm39)	S1523F	possibly damaging	Het
Cds1	A	T	5: 101,963,751 (GRCm39)	I357F	probably benign	Het
Cilp	T	A	9: 65,174,451 (GRCm39)	V13D	possibly damaging	Het
Copz2	A	G	11: 96,748,386 (GRCm39)	D180G	possibly damaging	Het
Cpsf1	C	T	15: 76,484,992 (GRCm39)	E546K	probably benign	Het
Ctsm	T	C	13: 61,684,413 (GRCm39)	N320D	probably damaging	Het
Fat3	G	A	9: 15,907,863 (GRCm39)	T2713I	probably benign	Het
Fcrl5	T	A	3: 87,343,195 (GRCm39)	S2T	probably benign	Het
Fgfr4	T	C	13: 55,315,974 (GRCm39)	S796P	unknown	Het
Flrt3	A	G	2: 140,502,159 (GRCm39)	F490L	probably benign	Het
Fras1	A	T	5: 96,910,359 (GRCm39)	I3263F	probably damaging	Het
Hydin	A	T	8: 111,301,648 (GRCm39)	D3793V	probably damaging	Het
Kif5c	T	A	2: 49,590,604 (GRCm39)	L269*	probably null	Het
Klhl32	A	G	4: 24,649,608 (GRCm39)	V396A	probably benign	Het
Krt1c	C	T	15: 101,724,926 (GRCm39)	R228Q	probably benign	Het
Lcn9	T	C	2: 25,714,784 (GRCm39)		probably null	Het
Lingo4	A	C	3: 94,310,676 (GRCm39)	D538A	probably benign	Het
Lonp1	G	T	17: 56,927,516 (GRCm39)	Y299*	probably null	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mettl25b	G	T	3: 87,831,768 (GRCm39)	Q397K	probably benign	Het
Mis18bp1	A	G	12: 65,180,631 (GRCm39)	V950A	probably benign	Het
Mndal	A	T	1: 173,690,274 (GRCm39)	V352E	probably damaging	Het
Mrpl55	T	C	11: 59,096,578 (GRCm39)	V117A	probably benign	Het
Muc6	T	A	7: 141,226,738 (GRCm39)	S1430C	unknown	Het
Myh11	C	A	16: 14,087,120 (GRCm39)	G119C		Het
Myorg	T	C	4: 41,499,030 (GRCm39)	D200G	probably benign	Het
Neu1	A	G	17: 35,150,396 (GRCm39)	D5G	probably benign	Het
Nrcam	T	A	12: 44,610,837 (GRCm39)	D512E	probably benign	Het
Nup214	T	G	2: 31,923,347 (GRCm39)	V1292G	possibly damaging	Het
Nwd1	T	A	8: 73,397,566 (GRCm39)	L602M	probably damaging	Het
Or6c3b	C	A	10: 129,527,003 (GRCm39)	L302F	probably benign	Het
Per2	C	T	1: 91,376,445 (GRCm39)	V143M	probably damaging	Het
Pfkl	A	T	10: 77,825,489 (GRCm39)	Y634N	probably damaging	Het
Phlpp1	A	G	1: 106,100,281 (GRCm39)	D183G	possibly damaging	Het
Pkdrej	T	A	15: 85,700,098 (GRCm39)	Y1946F	probably damaging	Het
Plxna4	C	T	6: 32,139,018 (GRCm39)	D1717N	probably damaging	Het
Ppp1r14bl	G	T	1: 23,141,275 (GRCm39)	T13N	probably benign	Het
Pramel23	T	A	4: 143,425,685 (GRCm39)	D86V	probably damaging	Het
Prdm16	A	T	4: 154,422,155 (GRCm39)	V879E	probably damaging	Het
Prr23a3	T	C	9: 98,747,298 (GRCm39)	V84A	probably benign	Het
Ptp4a1	A	G	1: 30,985,346 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,160,754 (GRCm39)	H634R	probably benign	Het
Rmi2	T	C	16: 10,653,089 (GRCm39)	S46P	probably benign	Het
Rsf1	A	T	7: 97,334,918 (GRCm39)	E1350D		Het
Slc6a6	T	A	6: 91,716,952 (GRCm39)	F276Y	possibly damaging	Het
Sppl3	A	G	5: 115,221,532 (GRCm39)	Y120C	probably benign	Het
Stard13	G	T	5: 150,985,956 (GRCm39)	A518E	probably benign	Het
Taf2	A	T	15: 54,929,409 (GRCm39)	V49E	possibly damaging	Het
Tas2r140	T	A	6: 40,468,592 (GRCm39)	W141R	probably damaging	Het
Tlx2	T	A	6: 83,047,035 (GRCm39)	H9L	unknown	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem132d	G	A	5: 127,861,491 (GRCm39)	Q877*	probably null	Het
Unc5d	A	T	8: 29,215,174 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,075,661 (GRCm39)	T4S	probably benign	Het
Uros	A	T	7: 133,292,853 (GRCm39)	I146N	probably damaging	Het
Vsig10	A	T	5: 117,463,131 (GRCm39)	D119V	probably benign	Het
Washc2	C	A	6: 116,193,069 (GRCm39)	Y138*	probably null	Het
Ywhah	T	A	5: 33,184,095 (GRCm39)	D99E	probably benign	Het
Zdbf2	G	A	1: 63,345,400 (GRCm39)	G1260R	probably damaging	Het
Zfp663	T	C	2: 165,195,974 (GRCm39)	T82A	probably benign	Het
Zfp831	T	A	2: 174,488,156 (GRCm39)	C944S	possibly damaging	Het

Other mutations in Pck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pck2	APN	14	55,780,098 (GRCm39)	missense	probably benign	0.30
IGL00430:Pck2	APN	14	55,781,401 (GRCm39)	missense	probably benign	0.07
IGL00814:Pck2	APN	14	55,785,756 (GRCm39)	unclassified	probably benign
IGL01012:Pck2	APN	14	55,781,526 (GRCm39)	splice site	probably benign
IGL02095:Pck2	APN	14	55,779,967 (GRCm39)	missense	probably benign	0.02
IGL02227:Pck2	APN	14	55,781,323 (GRCm39)	missense	probably benign
IGL02435:Pck2	APN	14	55,781,847 (GRCm39)	splice site	probably benign
IGL03124:Pck2	APN	14	55,782,790 (GRCm39)	missense	probably damaging	1.00
R0271:Pck2	UTSW	14	55,782,041 (GRCm39)	critical splice donor site	probably null
R1014:Pck2	UTSW	14	55,779,867 (GRCm39)	missense	probably benign	0.00
R1116:Pck2	UTSW	14	55,782,823 (GRCm39)	missense	probably benign	0.00
R1640:Pck2	UTSW	14	55,786,041 (GRCm39)	missense	possibly damaging	0.51
R1793:Pck2	UTSW	14	55,781,422 (GRCm39)	missense	possibly damaging	0.81
R1965:Pck2	UTSW	14	55,779,964 (GRCm39)	missense	probably benign	0.07
R1983:Pck2	UTSW	14	55,781,525 (GRCm39)	splice site	probably null
R3196:Pck2	UTSW	14	55,781,449 (GRCm39)	missense	probably damaging	1.00
R4751:Pck2	UTSW	14	55,780,018 (GRCm39)	missense	probably damaging	1.00
R5385:Pck2	UTSW	14	55,782,688 (GRCm39)	missense	probably damaging	1.00
R5960:Pck2	UTSW	14	55,786,004 (GRCm39)	missense	possibly damaging	0.48
R6134:Pck2	UTSW	14	55,781,419 (GRCm39)	missense	probably damaging	1.00
R6276:Pck2	UTSW	14	55,780,081 (GRCm39)	missense	probably damaging	1.00
R7030:Pck2	UTSW	14	55,785,223 (GRCm39)	missense	probably damaging	1.00
R7199:Pck2	UTSW	14	55,786,169 (GRCm39)	missense	probably benign	0.43
R7516:Pck2	UTSW	14	55,779,913 (GRCm39)	missense	probably benign	0.00
R8066:Pck2	UTSW	14	55,781,858 (GRCm39)	missense	probably benign	0.30
R9210:Pck2	UTSW	14	55,779,907 (GRCm39)	missense	probably benign	0.00
R9334:Pck2	UTSW	14	55,785,283 (GRCm39)	missense	probably damaging	1.00
R9499:Pck2	UTSW	14	55,780,081 (GRCm39)	missense	probably damaging	1.00
R9552:Pck2	UTSW	14	55,780,081 (GRCm39)	missense	probably damaging	1.00
X0065:Pck2	UTSW	14	55,785,520 (GRCm39)	missense	probably benign	0.01
Z1176:Pck2	UTSW	14	55,782,726 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTCCTGAACAGCCAACATGG -3'
(R):5'- TGGAGCCTTTGCCACAGTAC -3'

Sequencing Primer
(F):5'- ACATGGTCCCATATCCCGATTAG -3'
(R):5'- ACATACCAGGTTTCCAGGGC -3'

Posted On

2022-03-25