Incidental Mutation 'R5073:Pck1'
ID 388948
Institutional Source Beutler Lab
Gene Symbol Pck1
Ensembl Gene ENSMUSG00000027513
Gene Name phosphoenolpyruvate carboxykinase 1, cytosolic
Synonyms Pck-1, PEPCK
MMRRC Submission 042662-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5073 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 172994866-173001067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172998770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 343 (T343A)
Ref Sequence ENSEMBL: ENSMUSP00000029017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029017]
AlphaFold Q9Z2V4
Predicted Effect probably benign
Transcript: ENSMUST00000029017
AA Change: T343A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: T343A

DomainStartEndE-ValueType
Pfam:PEPCK 29 619 3.2e-275 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151269
Meta Mutation Damage Score 0.8773 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency 100% (113/113)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Ahnak T A 19: 8,980,595 (GRCm39) H626Q probably benign Het
Ampd2 A T 3: 107,986,549 (GRCm39) M245K probably damaging Het
Apob G A 12: 8,055,219 (GRCm39) probably null Het
Apool C T X: 111,259,540 (GRCm39) Q60* probably null Het
Aqp1 A T 6: 55,322,520 (GRCm39) I172F probably damaging Het
Atp7a A G X: 105,153,374 (GRCm39) D1092G probably benign Het
Bcas3 A G 11: 85,261,958 (GRCm39) Y110C probably damaging Het
Brpf1 T C 6: 113,287,215 (GRCm39) S148P probably damaging Het
Capn3 A G 2: 120,322,301 (GRCm39) H339R probably damaging Het
Ccdc141 A T 2: 76,954,722 (GRCm39) probably null Het
Ccl2 A G 11: 81,927,984 (GRCm39) probably benign Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cit T A 5: 116,084,902 (GRCm39) M811K probably benign Het
Crim1 T C 17: 78,588,776 (GRCm39) C284R possibly damaging Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dbndd2 A G 2: 164,332,224 (GRCm39) probably benign Het
Dnaja3 A T 16: 4,514,289 (GRCm39) T274S probably damaging Het
Dot1l A G 10: 80,620,480 (GRCm39) D514G possibly damaging Het
Dysf A T 6: 84,114,254 (GRCm39) K1226M probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Elavl1 A G 8: 4,351,741 (GRCm39) M125T possibly damaging Het
Eml4 C A 17: 83,771,006 (GRCm39) S723R probably damaging Het
Fgf15 A C 7: 144,450,576 (GRCm39) Y54S possibly damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gprasp2 C T X: 134,743,346 (GRCm39) T235I possibly damaging Het
H2ab3 T C X: 119,222,543 (GRCm39) T84A probably damaging Het
Hal A T 10: 93,349,904 (GRCm39) I555F probably damaging Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Het
Hibadh C T 6: 52,597,079 (GRCm39) V122M possibly damaging Het
Hmga1b C T 11: 120,654,012 (GRCm39) Q100* probably null Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ifnlr1 A G 4: 135,432,457 (GRCm39) T298A probably benign Het
Impdh2 G A 9: 108,440,535 (GRCm39) probably null Het
Insr A G 8: 3,209,475 (GRCm39) F1203L probably damaging Het
Kcnq4 A G 4: 120,574,714 (GRCm39) S117P probably damaging Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Kif1a T C 1: 92,950,227 (GRCm39) H1400R probably damaging Het
Kiss1r C A 10: 79,754,596 (GRCm39) S30* probably null Het
Krt222 T A 11: 99,134,796 (GRCm39) probably benign Het
Lekr1 A T 3: 65,727,215 (GRCm39) noncoding transcript Het
Ltn1 A G 16: 87,224,628 (GRCm39) V32A probably damaging Het
Marchf1 T A 8: 66,839,020 (GRCm39) W21R probably benign Het
Marchf5 A G 19: 37,188,207 (GRCm39) N58S possibly damaging Het
Mast4 G A 13: 102,875,391 (GRCm39) Q1158* probably null Het
Mib2 C G 4: 155,741,233 (GRCm39) A535P probably damaging Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Msc C T 1: 14,824,537 (GRCm39) V178M probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Muc5b A T 7: 141,412,999 (GRCm39) T1982S unknown Het
Mvk A T 5: 114,591,013 (GRCm39) probably benign Het
Myo1a T C 10: 127,543,288 (GRCm39) probably null Het
Myo6 T G 9: 80,195,290 (GRCm39) S887A probably benign Het
Myo7a G A 7: 97,722,425 (GRCm39) Q1167* probably null Het
Ncald A T 15: 37,397,478 (GRCm39) H67Q probably damaging Het
Nmnat1 C A 4: 149,553,595 (GRCm39) M172I probably benign Het
Nudt1 G T 5: 140,317,662 (GRCm39) probably null Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Or1m1 T C 9: 18,666,118 (GRCm39) E271G possibly damaging Het
Or4e1 T A 14: 52,701,032 (GRCm39) M118L probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Parp14 A T 16: 35,655,077 (GRCm39) I1798K probably damaging Het
Pcdhga7 A G 18: 37,849,025 (GRCm39) D344G probably damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Pilra A G 5: 137,833,674 (GRCm39) F131L probably damaging Het
Ppl A T 16: 4,906,742 (GRCm39) S1184R probably benign Het
Prmt2 C T 10: 76,058,390 (GRCm39) V140I probably damaging Het
Prpf38b A G 3: 108,818,484 (GRCm39) F92S probably damaging Het
Psmc3 A G 2: 90,884,915 (GRCm39) probably benign Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Rgs9 C A 11: 109,118,157 (GRCm39) A332S probably benign Het
Rptor T C 11: 119,787,305 (GRCm39) I1290T possibly damaging Het
Slc38a7 C A 8: 96,568,278 (GRCm39) R369L probably damaging Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slco2a1 G T 9: 102,923,925 (GRCm39) L46F probably damaging Het
Snrpd3 G T 10: 75,355,227 (GRCm39) C20F possibly damaging Het
Stab2 A T 10: 86,699,422 (GRCm39) I481N probably benign Het
Tbc1d9 A G 8: 83,960,176 (GRCm39) E143G probably damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Tg A C 15: 66,607,101 (GRCm39) M213L probably benign Het
Tnc A G 4: 63,938,648 (GRCm39) C64R probably damaging Het
Tpd52l1 A G 10: 31,233,916 (GRCm39) L79S probably damaging Het
Tpp2 C A 1: 43,993,896 (GRCm39) S260R possibly damaging Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Tshz2 A T 2: 169,804,493 (GRCm39) probably benign Het
Tuba8 T C 6: 121,199,862 (GRCm39) V182A probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp53 A T 3: 122,727,595 (GRCm39) S996T probably benign Het
Vcam1 A G 3: 115,918,037 (GRCm39) V308A probably damaging Het
Wdr17 T A 8: 55,143,271 (GRCm39) probably null Het
Wdr6 G A 9: 108,451,565 (GRCm39) H773Y probably damaging Het
Wnk4 T G 11: 101,152,014 (GRCm39) F173V probably damaging Het
Xrcc5 T C 1: 72,378,188 (GRCm39) Y395H probably damaging Het
Zcwpw1 T A 5: 137,793,781 (GRCm39) M1K probably null Het
Zfp263 A G 16: 3,564,704 (GRCm39) R240G possibly damaging Het
Zfp652 A G 11: 95,640,890 (GRCm39) I272V possibly damaging Het
Other mutations in Pck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Pck1 APN 2 172,995,911 (GRCm39) critical splice donor site probably null
IGL00817:Pck1 APN 2 172,995,225 (GRCm39) missense possibly damaging 0.47
IGL02476:Pck1 APN 2 173,000,075 (GRCm39) missense probably benign
IGL02803:Pck1 APN 2 172,997,797 (GRCm39) missense probably damaging 1.00
IGL02874:Pck1 APN 2 172,997,042 (GRCm39) missense probably damaging 1.00
IGL02886:Pck1 APN 2 172,996,649 (GRCm39) missense probably benign 0.43
Limestone UTSW 2 173,000,353 (GRCm39) missense probably damaging 1.00
limpet UTSW 2 172,995,805 (GRCm39) missense probably damaging 0.99
R0041:Pck1 UTSW 2 172,997,003 (GRCm39) missense probably benign 0.21
R0125:Pck1 UTSW 2 172,997,874 (GRCm39) nonsense probably null
R0238:Pck1 UTSW 2 172,998,861 (GRCm39) missense possibly damaging 0.91
R0238:Pck1 UTSW 2 172,998,861 (GRCm39) missense possibly damaging 0.91
R0373:Pck1 UTSW 2 172,995,183 (GRCm39) start codon destroyed probably null 0.99
R0595:Pck1 UTSW 2 172,998,822 (GRCm39) missense probably damaging 1.00
R1338:Pck1 UTSW 2 173,000,203 (GRCm39) missense probably benign 0.18
R1623:Pck1 UTSW 2 172,996,511 (GRCm39) missense probably benign 0.26
R1752:Pck1 UTSW 2 172,998,906 (GRCm39) missense probably benign 0.00
R2107:Pck1 UTSW 2 172,995,861 (GRCm39) missense probably benign 0.00
R2376:Pck1 UTSW 2 172,998,909 (GRCm39) missense probably benign
R2883:Pck1 UTSW 2 173,000,368 (GRCm39) missense probably benign 0.03
R3508:Pck1 UTSW 2 173,000,177 (GRCm39) missense possibly damaging 0.61
R4718:Pck1 UTSW 2 172,997,014 (GRCm39) missense probably damaging 0.99
R4853:Pck1 UTSW 2 172,996,507 (GRCm39) nonsense probably null
R4907:Pck1 UTSW 2 172,998,816 (GRCm39) missense probably damaging 1.00
R4950:Pck1 UTSW 2 172,996,620 (GRCm39) missense probably benign
R5134:Pck1 UTSW 2 172,995,282 (GRCm39) missense probably benign 0.23
R5213:Pck1 UTSW 2 172,997,878 (GRCm39) nonsense probably null
R5244:Pck1 UTSW 2 172,996,656 (GRCm39) missense possibly damaging 0.91
R5654:Pck1 UTSW 2 173,000,353 (GRCm39) missense probably damaging 1.00
R5831:Pck1 UTSW 2 172,998,792 (GRCm39) missense probably damaging 1.00
R6030:Pck1 UTSW 2 172,996,650 (GRCm39) missense probably benign 0.40
R6030:Pck1 UTSW 2 172,996,650 (GRCm39) missense probably benign 0.40
R6143:Pck1 UTSW 2 172,995,805 (GRCm39) missense probably damaging 0.99
R6276:Pck1 UTSW 2 172,999,112 (GRCm39) missense probably damaging 1.00
R7553:Pck1 UTSW 2 172,998,860 (GRCm39) missense probably benign 0.13
R7860:Pck1 UTSW 2 172,997,743 (GRCm39) missense possibly damaging 0.80
R8076:Pck1 UTSW 2 172,997,071 (GRCm39) missense probably damaging 1.00
R8187:Pck1 UTSW 2 172,997,033 (GRCm39) missense probably benign 0.23
R8523:Pck1 UTSW 2 172,999,064 (GRCm39) missense probably damaging 1.00
R8729:Pck1 UTSW 2 172,997,866 (GRCm39) missense probably damaging 1.00
R8982:Pck1 UTSW 2 172,999,112 (GRCm39) missense probably damaging 1.00
R9124:Pck1 UTSW 2 172,997,018 (GRCm39) missense probably benign 0.01
R9245:Pck1 UTSW 2 172,996,569 (GRCm39) missense probably damaging 1.00
R9520:Pck1 UTSW 2 172,997,854 (GRCm39) missense probably damaging 1.00
R9705:Pck1 UTSW 2 173,000,170 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TCAAAATGGCTGGCTGTGTAG -3'
(R):5'- CTTAGCATGGCCCAGATAGGTG -3'

Sequencing Primer
(F):5'- CAAAATGGCTGGCTGTGTAGTTTAG -3'
(R):5'- ATAGGTGGCACCCAGAAGCC -3'
Posted On 2016-06-06