Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00814:Pck2'

12934

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

Essential gene?

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

Stock #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

55777721-55787477 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 55785756 bp (GRCm39)

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: ENSMUST00000226295

Predicted Effect

probably benign
Transcript: ENSMUST00000226352

Predicted Effect

probably benign
Transcript: ENSMUST00000226519

Predicted Effect

probably benign
Transcript: ENSMUST00000226650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228283

Predicted Effect

probably benign
Transcript: ENSMUST00000228921

Predicted Effect

probably benign
Transcript: ENSMUST00000228240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226770

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cops6	G	T	5: 138,161,640 (GRCm39)	R58L	probably damaging	Het
Elmo1	T	A	13: 20,470,894 (GRCm39)	M262K	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202 (GRCm39)	M429K	probably damaging	Het
Hipk2	G	A	6: 38,795,484 (GRCm39)	R262W	probably damaging	Het
Kif23	A	T	9: 61,844,389 (GRCm39)	I143K	possibly damaging	Het
Mbtd1	T	A	11: 93,834,666 (GRCm39)	S615T	possibly damaging	Het
Nlrp9c	C	T	7: 26,084,175 (GRCm39)	S468N	probably benign	Het
Nt5c2	A	T	19: 46,886,087 (GRCm39)	D212E	probably benign	Het
Or52e19	A	T	7: 102,959,014 (GRCm39)	I29L	probably benign	Het
Pdcd6ip	T	C	9: 113,516,721 (GRCm39)	Q230R	probably damaging	Het
Pomk	T	C	8: 26,473,624 (GRCm39)	T110A	probably benign	Het
Psg23	C	T	7: 18,348,608 (GRCm39)	W66*	probably null	Het
Rnf144b	T	C	13: 47,373,964 (GRCm39)		probably benign	Het
Sppl2c	G	A	11: 104,077,805 (GRCm39)	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,116,867 (GRCm39)	L95R	probably damaging	Het
Ttn	A	G	2: 76,637,511 (GRCm39)	V12248A	probably benign	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
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
R9257:Pck2	UTSW	14	55,782,702 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-12-06