Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01012:Pck2'

53962

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pck2

Ensembl Gene

ENSMUSG00000040618

Gene Name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Synonyms

1810010O14Rik, 9130022B02Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL01012

Quality Score

Status

Chromosome

Chromosomal Location

55540266-55551242 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 55544069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BH04

Predicted Effect

probably benign
Transcript: ENSMUST00000048781

SMART Domains

Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618

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 benign
Transcript: ENSMUST00000226231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226295

Predicted Effect

probably benign
Transcript: ENSMUST00000226352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226514

Predicted Effect

probably benign
Transcript: ENSMUST00000226519

Predicted Effect

probably benign
Transcript: ENSMUST00000226650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226770

Predicted Effect

probably benign
Transcript: ENSMUST00000228240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228843

Predicted Effect

probably benign
Transcript: ENSMUST00000228921

Coding Region Coverage

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,839,701	M249K	possibly damaging	Het
Adamtsl1	T	C	4: 86,342,189	F879S	possibly damaging	Het
Afap1l2	T	C	19: 56,930,261	E30G	probably damaging	Het
Aqp9	A	G	9: 71,130,549		probably benign	Het
Arhgap17	A	T	7: 123,286,568		probably benign	Het
Arhgef10	T	C	8: 14,979,977	S921P	probably damaging	Het
Atp6v0e2	T	C	6: 48,537,815	I22T	probably damaging	Het
AY074887	C	T	9: 54,950,679		probably benign	Het
Bcl2l15	T	A	3: 103,833,414	D65E	probably damaging	Het
C2cd6	A	T	1: 58,997,348		probably benign	Het
Ccdc138	G	A	10: 58,540,915		probably null	Het
Ccdc7b	A	G	8: 129,178,357	T159A	possibly damaging	Het
Ccser1	A	G	6: 61,638,490	T659A	probably benign	Het
Cd300ld2	T	A	11: 115,012,297	I241F	probably benign	Het
Cep192	T	A	18: 67,812,406	N192K	possibly damaging	Het
Csmd1	T	C	8: 15,917,341	K3174R	probably benign	Het
Dpy30	A	T	17: 74,307,754	L65I	probably damaging	Het
Eci2	A	T	13: 34,990,329	L83*	probably null	Het
F7	A	T	8: 13,033,409	E183V	probably damaging	Het
Fam192a	G	A	8: 94,587,362	R104W	probably damaging	Het
Gabrg1	T	C	5: 70,778,169	K214R	probably benign	Het
Galr2	A	T	11: 116,283,170	T209S	probably damaging	Het
Gimap9	T	C	6: 48,677,917		probably null	Het
Gip	C	A	11: 96,025,459	F28L	probably benign	Het
Gpd2	A	G	2: 57,364,530	N662S	probably benign	Het
Grik2	T	G	10: 49,272,956	D511A	probably damaging	Het
Ift122	T	A	6: 115,899,491	Y563N	probably damaging	Het
Ipo8	A	G	6: 148,789,063		probably benign	Het
Islr	T	C	9: 58,157,228	E332G	probably damaging	Het
Itgb7	G	A	15: 102,227,585	S5L	probably benign	Het
Itpr2	G	A	6: 146,345,161	R1087W	probably damaging	Het
Katnal2	C	A	18: 77,017,554	V66F	probably damaging	Het
Krt81	T	C	15: 101,461,019	D284G	probably benign	Het
Krtap4-8	T	A	11: 99,780,005		probably benign	Het
Map1s	C	A	8: 70,913,910	N486K	probably benign	Het
Med13l	G	A	5: 118,734,028	D842N	probably damaging	Het
Mef2c	T	A	13: 83,655,595	M306K	probably damaging	Het
Myb	C	T	10: 21,146,260	V377I	probably benign	Het
Myocd	C	T	11: 65,184,625	G558R	possibly damaging	Het
Nars	G	T	18: 64,504,968	A305E	probably damaging	Het
Neb	A	T	2: 52,196,361	N5233K	probably benign	Het
Nipsnap2	T	C	5: 129,746,439	I181T	possibly damaging	Het
Olfr1496	T	C	19: 13,781,573		probably benign	Het
Olfr960	A	T	9: 39,623,365	M81L	probably benign	Het
P3h2	A	C	16: 25,987,248	C282G	probably damaging	Het
Pcgf5	T	A	19: 36,442,868	C167S	probably damaging	Het
Peli2	C	T	14: 48,252,730	R169*	probably null	Het
Pramef25	T	A	4: 143,950,214		probably benign	Het
Ralgapa2	T	A	2: 146,421,739	Q686L	possibly damaging	Het
Scap	C	A	9: 110,362,420	P50H	probably damaging	Het
Sh3rf2	T	A	18: 42,054,192	D125E	possibly damaging	Het
Slc25a38	T	C	9: 120,116,494		probably benign	Het
Slc35a5	A	G	16: 45,143,832	V346A	probably damaging	Het
Smad4	T	A	18: 73,675,809	N129I	probably damaging	Het
Sod2	C	T	17: 13,013,577	A163V	possibly damaging	Het
Spred3	T	A	7: 29,161,523		probably benign	Het
Stag1	C	A	9: 100,855,859	A423E	possibly damaging	Het
Stk17b	A	T	1: 53,761,037	S261T	probably benign	Het
Stx3	T	C	19: 11,791,788	K58E	probably damaging	Het
Timm10b	C	A	7: 105,641,138	Y79*	probably null	Het
Tmem204	T	C	17: 25,070,355	D97G	probably damaging	Het
Tnfrsf25	T	C	4: 152,118,428	V181A	probably benign	Het
Trim54	T	G	5: 31,136,958	S313A	probably benign	Het
Unc79	T	A	12: 103,112,455	D1433E	probably damaging	Het
Vmn2r23	A	G	6: 123,729,596	T462A	probably benign	Het
Wdr27	T	A	17: 14,926,247	H162L	probably damaging	Het

Other mutations in Pck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pck2	APN	14	55542641	missense	probably benign	0.30
IGL00430:Pck2	APN	14	55543944	missense	probably benign	0.07
IGL00814:Pck2	APN	14	55548299	unclassified	probably benign
IGL02095:Pck2	APN	14	55542510	missense	probably benign	0.02
IGL02227:Pck2	APN	14	55543866	missense	probably benign
IGL02435:Pck2	APN	14	55544390	splice site	probably benign
IGL03124:Pck2	APN	14	55545333	missense	probably damaging	1.00
R0271:Pck2	UTSW	14	55544584	critical splice donor site	probably null
R1014:Pck2	UTSW	14	55542410	missense	probably benign	0.00
R1116:Pck2	UTSW	14	55545366	missense	probably benign	0.00
R1640:Pck2	UTSW	14	55548584	missense	possibly damaging	0.51
R1793:Pck2	UTSW	14	55543965	missense	possibly damaging	0.81
R1965:Pck2	UTSW	14	55542507	missense	probably benign	0.07
R1983:Pck2	UTSW	14	55544068	splice site	probably null
R3196:Pck2	UTSW	14	55543992	missense	probably damaging	1.00
R4751:Pck2	UTSW	14	55542561	missense	probably damaging	1.00
R5385:Pck2	UTSW	14	55545231	missense	probably damaging	1.00
R5960:Pck2	UTSW	14	55548547	missense	possibly damaging	0.48
R6134:Pck2	UTSW	14	55543962	missense	probably damaging	1.00
R6276:Pck2	UTSW	14	55542624	missense	probably damaging	1.00
R7030:Pck2	UTSW	14	55547766	missense	probably damaging	1.00
R7199:Pck2	UTSW	14	55548712	missense	probably benign	0.43
R7516:Pck2	UTSW	14	55542456	missense	probably benign	0.00
R8066:Pck2	UTSW	14	55544401	missense	probably benign	0.30
R9210:Pck2	UTSW	14	55542450	missense	probably benign	0.00
R9257:Pck2	UTSW	14	55545245	missense	probably damaging	1.00
R9334:Pck2	UTSW	14	55547826	missense	probably damaging	1.00
X0065:Pck2	UTSW	14	55548063	missense	probably benign	0.01
Z1176:Pck2	UTSW	14	55545269	missense	probably benign	0.00

Posted On

2013-06-28