Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02095:Pck2'

279586

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?

Probably non essential (E-score: 0.168) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

55540266-55551242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55542510 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 72 (R72Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038555 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048781
AA Change: R72Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: R72Q

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
AA Change: R45Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226514

Predicted Effect

probably benign
Transcript: ENSMUST00000226519
AA Change: R45Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

unknown
Transcript: ENSMUST00000226650
AA Change: R35Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226770

Predicted Effect

probably benign
Transcript: ENSMUST00000228240
AA Change: R37Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228843

Predicted Effect

unknown
Transcript: ENSMUST00000228921
AA Change: R35Q

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,626	Q794L	probably benign	Het
Acrbp	C	A	6: 125,053,956	Y313*	probably null	Het
Adam9	A	G	8: 24,996,729	S178P	probably benign	Het
Adgrv1	T	C	13: 81,579,790	I244V	possibly damaging	Het
Atad5	A	G	11: 80,094,707	S207G	probably benign	Het
Atp10a	A	G	7: 58,807,393	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,310	I573T	probably benign	Het
Camsap3	A	G	8: 3,603,845	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,493	E438G	probably damaging	Het
Cisd2	T	C	3: 135,411,219	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,681,032	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,623,791	G544D	possibly damaging	Het
Dok2	G	T	14: 70,777,861	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,447,703	N87D	probably damaging	Het
Ehf	T	C	2: 103,266,991	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,180,536	T569A	probably damaging	Het
Fam151a	T	C	4: 106,747,875	V478A	probably damaging	Het
Fam227b	T	A	2: 126,101,004	H291L	probably damaging	Het
Fmn2	A	G	1: 174,502,601	T186A	unknown	Het
Ggnbp2	T	C	11: 84,833,128	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,608,803	M318I	probably benign	Het
Gprc5d	A	G	6: 135,116,177	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,232,787	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,702,005	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,700,027		probably benign	Het
Krt40	T	C	11: 99,541,671	D173G	probably damaging	Het
Lrrc27	C	T	7: 139,230,253	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,629,404	N125S	probably benign	Het
Mtor	C	T	4: 148,544,541	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,411,231	R866W	probably damaging	Het
Olfr1424	C	A	19: 12,059,549	V68F	probably benign	Het
Olfr982	T	A	9: 40,074,671	Y125*	probably null	Het
P2ry6	T	A	7: 100,938,864	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,756,156	S237T	probably benign	Het
Pik3c2a	C	T	7: 116,346,188	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,454,610	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,327,006	D198E	probably benign	Het
Rasa1	T	A	13: 85,216,155	E1022D	probably benign	Het
Rbm25	T	C	12: 83,671,974	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,144,260	I488K	probably damaging	Het
Ryr2	T	A	13: 11,759,759	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,834,830	T1198P	probably damaging	Het
Sema3g	C	T	14: 31,227,824	T654I	probably benign	Het
Spag9	A	T	11: 94,108,582	H1108L	probably damaging	Het
Tcrg-C2	T	A	13: 19,307,410		probably benign	Het
Ubap2	T	C	4: 41,229,709	N142S	probably benign	Het
Usp33	T	C	3: 152,381,794	F699L	possibly damaging	Het
Ythdc2	A	G	18: 44,873,140		probably benign	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
IGL01012:Pck2	APN	14	55544069	splice site	probably benign
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
X0065:Pck2	UTSW	14	55548063	missense	probably benign	0.01

Posted On

2015-04-16