Incidental Mutation 'IGL00814:Pck2'
ID12934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pck2
Ensembl Gene ENSMUSG00000040618
Gene Namephosphoenolpyruvate carboxykinase 2 (mitochondrial)
Synonyms1810010O14Rik, 9130022B02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL00814
Quality Score
Status
Chromosome14
Chromosomal Location55540266-55551242 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 55548299 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000048781] [ENSMUST00000226352] [ENSMUST00000226519] [ENSMUST00000228240]
Predicted Effect probably benign
Transcript: ENSMUST00000048781
SMART Domains Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618

DomainStartEndE-ValueType
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: ENSMUST00000226770
Predicted Effect probably benign
Transcript: ENSMUST00000228240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228283
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cops6 G T 5: 138,163,378 R58L probably damaging Het
Elmo1 T A 13: 20,286,724 M262K probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gria4 A T 9: 4,472,202 M429K probably damaging Het
Hipk2 G A 6: 38,818,549 R262W probably damaging Het
Kif23 A T 9: 61,937,107 I143K possibly damaging Het
Mbtd1 T A 11: 93,943,840 S615T possibly damaging Het
Nlrp9c C T 7: 26,384,750 S468N probably benign Het
Nt5c2 A T 19: 46,897,648 D212E probably benign Het
Olfr596 A T 7: 103,309,807 I29L probably benign Het
Pdcd6ip T C 9: 113,687,653 Q230R probably damaging Het
Pomk T C 8: 25,983,596 T110A probably benign Het
Psg23 C T 7: 18,614,683 W66* probably null Het
Rnf144b T C 13: 47,220,488 probably benign Het
Sppl2c G A 11: 104,186,979 G202S possibly damaging Het
Thnsl2 A C 6: 71,139,883 L95R probably damaging Het
Ttn A G 2: 76,807,167 V12248A probably benign Het
Other mutations in Pck2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Pck2 APN 14 55542641 missense probably benign 0.30
IGL00430:Pck2 APN 14 55543944 missense probably benign 0.07
IGL01012:Pck2 APN 14 55544069 splice site 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
X0065:Pck2 UTSW 14 55548063 missense probably benign 0.01
Z1176:Pck2 UTSW 14 55545269 missense probably benign 0.00
Posted On2012-12-06