Incidental Mutation 'R3196:Pck2'
ID 267669
Institutional Source Beutler Lab
Gene Symbol Pck2
Ensembl Gene ENSMUSG00000040618
Gene Name phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Synonyms 1810010O14Rik, 9130022B02Rik
MMRRC Submission 040617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R3196 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55777721-55787477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55781449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 190 (V190E)
Ref Sequence ENSEMBL: ENSMUSP00000154736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048781] [ENSMUST00000226352] [ENSMUST00000228240] [ENSMUST00000226519]
AlphaFold Q8BH04
Predicted Effect probably damaging
Transcript: ENSMUST00000048781
AA Change: V225E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: V225E

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:PEPCK 73 664 1.9e-276 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000226231
AA Change: V106E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226295
Predicted Effect probably damaging
Transcript: ENSMUST00000226352
AA Change: V198E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226514
Predicted Effect probably damaging
Transcript: ENSMUST00000228240
AA Change: V190E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000226650
AA Change: V188E
Predicted Effect probably damaging
Transcript: ENSMUST00000226519
AA Change: V198E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226664
Predicted Effect probably benign
Transcript: ENSMUST00000228921
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,132 (GRCm39) N158K probably benign Het
Acnat1 G C 4: 49,447,457 (GRCm39) P357A probably damaging Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Amelx T C X: 167,964,826 (GRCm39) probably benign Het
Brap G A 5: 121,803,259 (GRCm39) V136I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Csk A T 9: 57,537,556 (GRCm39) C119* probably null Het
Dcbld1 T C 10: 52,195,587 (GRCm39) L265P probably damaging Het
Desi1 T A 15: 81,887,976 (GRCm39) K31N probably damaging Het
Dpy19l2 C A 9: 24,607,285 (GRCm39) G59C probably damaging Het
Eif2b5 T C 16: 20,324,272 (GRCm39) V498A probably benign Het
Epdr1 A T 13: 19,778,815 (GRCm39) Y94N probably damaging Het
Fat1 T C 8: 45,404,905 (GRCm39) V552A probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Frem2 A T 3: 53,444,752 (GRCm39) Y2460N probably damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Gpalpp1 A C 14: 76,336,063 (GRCm39) probably null Het
Grid2ip A G 5: 143,373,933 (GRCm39) I858V probably damaging Het
Grin2b ATTGTTGT ATTGT 6: 135,709,453 (GRCm39) probably benign Het
Hps4 A G 5: 112,512,429 (GRCm39) T182A probably damaging Het
Impa1 A T 3: 10,394,075 (GRCm39) probably null Het
Kcnh3 T C 15: 99,131,862 (GRCm39) S606P probably damaging Het
Kif23 T A 9: 61,839,193 (GRCm39) R301* probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lcp2 G T 11: 34,040,670 (GRCm39) A529S probably benign Het
Lhx8 G A 3: 154,035,925 (GRCm39) A22V probably benign Het
Lin28a A T 4: 133,735,235 (GRCm39) S134T possibly damaging Het
Med27 T A 2: 29,236,882 (GRCm39) V9E possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Mtcl1 T G 17: 66,650,829 (GRCm39) E1545D probably benign Het
Muc16 A G 9: 18,409,126 (GRCm39) Y187H probably damaging Het
Myo3a G T 2: 22,404,679 (GRCm39) K678N possibly damaging Het
Nsmce1 T C 7: 125,085,645 (GRCm39) M15V probably benign Het
Nxpe3 A T 16: 55,670,078 (GRCm39) N342K probably damaging Het
Or7g25 A G 9: 19,160,495 (GRCm39) S67P probably damaging Het
Or8g2 T A 9: 39,821,756 (GRCm39) I219N probably damaging Het
Pcdhb9 A G 18: 37,534,663 (GRCm39) N219S probably benign Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Phf1 T C 17: 27,153,429 (GRCm39) V54A probably damaging Het
Pla2r1 T C 2: 60,353,127 (GRCm39) E278G probably damaging Het
Ptges3 G T 10: 127,908,016 (GRCm39) R122L probably benign Het
Rnpepl1 C T 1: 92,844,881 (GRCm39) T391I probably damaging Het
Rps6kb1 G A 11: 86,397,633 (GRCm39) A404V probably benign Het
Rrm2b T C 15: 37,945,391 (GRCm39) probably null Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc9b2 G T 3: 135,042,290 (GRCm39) R523L probably benign Het
Slco1c1 T A 6: 141,477,174 (GRCm39) probably null Het
Stox2 T C 8: 47,645,865 (GRCm39) T532A probably damaging Het
Tbcel A G 9: 42,327,248 (GRCm39) L385P probably damaging Het
Tle5 A G 10: 81,401,474 (GRCm39) N181D probably benign Het
Tmem268 G A 4: 63,496,149 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top3a G A 11: 60,650,182 (GRCm39) T122M probably damaging Het
Trav7n-4 G A 14: 53,329,088 (GRCm39) V33I probably benign Het
Ttn T G 2: 76,539,551 (GRCm39) E26151D possibly damaging Het
Ttn C T 2: 76,687,228 (GRCm39) probably benign Het
Tyk2 A G 9: 21,035,328 (GRCm39) C195R possibly damaging Het
Ugt2b38 T C 5: 87,558,078 (GRCm39) K528E probably damaging Het
Usp28 T A 9: 48,937,125 (GRCm39) D483E probably benign Het
Vldlr A G 19: 27,220,554 (GRCm39) D598G probably damaging Het
Vmn1r51 T G 6: 90,106,498 (GRCm39) I138S probably damaging Het
Vps13b G A 15: 35,869,541 (GRCm39) A2682T probably damaging Het
Wac T A 18: 7,917,568 (GRCm39) V346E probably damaging Het
Zdbf2 T C 1: 63,347,579 (GRCm39) V1986A possibly damaging Het
Other mutations in Pck2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GATTCCCAGGATGCATGCAG -3'
(R):5'- CGGGGAATAATCGTTCTACATCC -3'

Sequencing Primer
(F):5'- GCGCTGAGGCTATGACTG -3'
(R):5'- ATCCACAATTTCTCCGTGGATGGG -3'
Posted On 2015-02-18