Incidental Mutation 'R0098:Pcx'
ID 64119
Institutional Source Beutler Lab
Gene Symbol Pcx
Ensembl Gene ENSMUSG00000024892
Gene Name pyruvate carboxylase
Synonyms Pc
MMRRC Submission 038384-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0098 (G1)
Quality Score 106
Status Validated
Chromosome 19
Chromosomal Location 4560500-4671780 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 4651775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000224726] [ENSMUST00000225189]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000068004
SMART Domains Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:CPSase_L_chain 37 147 3.3e-45 PFAM
Pfam:ATP-grasp_4 149 334 3.9e-19 PFAM
Pfam:CPSase_L_D2 152 361 7.2e-77 PFAM
Pfam:Dala_Dala_lig_C 161 329 1.5e-11 PFAM
Biotin_carb_C 376 483 1.21e-50 SMART
low complexity region 513 541 N/A INTRINSIC
Pfam:HMGL-like 564 838 8.2e-29 PFAM
Pfam:PYC_OADA 862 1062 1.4e-72 PFAM
Pfam:Biotin_lipoyl 1111 1178 1.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113825
SMART Domains Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
Pfam:CPSase_L_chain 36 146 1.1e-43 PFAM
Pfam:ATP-grasp_4 148 332 2.9e-19 PFAM
Pfam:CPSase_L_D2 151 360 4.2e-77 PFAM
Pfam:Dala_Dala_lig_C 158 328 7.9e-13 PFAM
Biotin_carb_C 375 482 1.21e-50 SMART
low complexity region 512 540 N/A INTRINSIC
Pfam:HMGL-like 571 821 3.4e-28 PFAM
Pfam:PYC_OADA 861 1062 3.4e-69 PFAM
Pfam:Biotin_lipoyl 1110 1177 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224726
Predicted Effect probably benign
Transcript: ENSMUST00000225189
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,127,689 (GRCm39) I97T probably damaging Het
Acp3 C T 9: 104,197,144 (GRCm39) probably null Het
Adam32 T A 8: 25,404,405 (GRCm39) Y200F possibly damaging Het
Alpk2 A G 18: 65,482,982 (GRCm39) L342S probably damaging Het
Arfgef3 A G 10: 18,465,390 (GRCm39) V2151A probably damaging Het
Atm T C 9: 53,429,869 (GRCm39) D389G probably benign Het
Atp10b A T 11: 43,080,431 (GRCm39) S236C probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Cndp1 T A 18: 84,646,949 (GRCm39) E246D probably damaging Het
Crebbp A G 16: 3,909,792 (GRCm39) L1078P probably damaging Het
Cyp20a1 G T 1: 60,426,413 (GRCm39) E452* probably null Het
Emb T C 13: 117,404,034 (GRCm39) V262A probably damaging Het
Ephb1 C T 9: 101,918,339 (GRCm39) R390H probably damaging Het
Faf1 T C 4: 109,792,696 (GRCm39) L556S probably damaging Het
Fam237b T A 5: 5,625,355 (GRCm39) L17Q possibly damaging Het
Fbf1 A T 11: 116,038,945 (GRCm39) probably null Het
Gid8 T A 2: 180,356,528 (GRCm39) I55N possibly damaging Het
Hexa T C 9: 59,465,383 (GRCm39) Y213H probably damaging Het
Kalrn A T 16: 33,795,989 (GRCm39) I1262K possibly damaging Het
Lrp1 C T 10: 127,388,607 (GRCm39) V3281I probably benign Het
Lrp2 T C 2: 69,305,756 (GRCm39) D2935G probably damaging Het
Lypd6 T A 2: 50,080,792 (GRCm39) V160E probably benign Het
Muc19 C T 15: 91,777,101 (GRCm39) noncoding transcript Het
Mybpc1 T C 10: 88,365,426 (GRCm39) D899G probably benign Het
Myo18a A G 11: 77,736,591 (GRCm39) E1564G probably damaging Het
Nrxn3 A G 12: 89,226,971 (GRCm39) D202G probably damaging Het
Palld C A 8: 61,978,120 (GRCm39) G890V probably damaging Het
Plcg1 T C 2: 160,573,920 (GRCm39) W62R probably damaging Het
Ppa2 C T 3: 133,076,234 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,888 (GRCm39) I254M probably benign Het
Prune2 A G 19: 17,101,267 (GRCm39) E2257G possibly damaging Het
Rd3 A G 1: 191,717,261 (GRCm39) M244V probably benign Het
Rfx5 T A 3: 94,865,679 (GRCm39) V326E probably damaging Het
Rgs3 G C 4: 62,544,143 (GRCm39) R305P probably damaging Het
Rpp40 A G 13: 36,082,970 (GRCm39) Y173H probably benign Het
Ryr3 T C 2: 112,731,376 (GRCm39) N645D probably damaging Het
Sema3e T C 5: 14,302,446 (GRCm39) V657A possibly damaging Het
Serpina3n T A 12: 104,379,777 (GRCm39) V390E probably damaging Het
Shank1 A G 7: 43,962,709 (GRCm39) Y141C unknown Het
Stat2 T A 10: 128,119,131 (GRCm39) H428Q probably damaging Het
Stat5a A T 11: 100,766,452 (GRCm39) Q378L probably damaging Het
Tfrc G T 16: 32,442,244 (GRCm39) V490F probably damaging Het
Tnnt1 T C 7: 4,512,044 (GRCm39) N155S probably damaging Het
Topaz1 T C 9: 122,619,188 (GRCm39) Y1262H possibly damaging Het
Ubxn8 T C 8: 34,125,393 (GRCm39) probably benign Het
Unk A G 11: 115,940,995 (GRCm39) Y252C probably damaging Het
Vmn2r66 A C 7: 84,654,965 (GRCm39) M448R probably damaging Het
Zfp386 T A 12: 116,022,834 (GRCm39) L184* probably null Het
Zfp985 T C 4: 147,661,566 (GRCm39) S4P probably damaging Het
Other mutations in Pcx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Pcx APN 19 4,670,965 (GRCm39) missense probably benign 0.02
IGL01339:Pcx APN 19 4,670,263 (GRCm39) splice site probably null
IGL01373:Pcx APN 19 4,670,263 (GRCm39) splice site probably null
IGL01704:Pcx APN 19 4,671,088 (GRCm39) missense probably damaging 1.00
IGL02223:Pcx APN 19 4,652,006 (GRCm39) missense probably damaging 1.00
PIT4151001:Pcx UTSW 19 4,653,157 (GRCm39) missense probably damaging 1.00
R0098:Pcx UTSW 19 4,651,775 (GRCm39) splice site probably benign
R0211:Pcx UTSW 19 4,670,227 (GRCm39) missense probably damaging 1.00
R0211:Pcx UTSW 19 4,670,227 (GRCm39) missense probably damaging 1.00
R0398:Pcx UTSW 19 4,651,638 (GRCm39) missense probably benign 0.35
R0414:Pcx UTSW 19 4,657,670 (GRCm39) missense possibly damaging 0.60
R1402:Pcx UTSW 19 4,652,058 (GRCm39) missense possibly damaging 0.59
R1402:Pcx UTSW 19 4,652,058 (GRCm39) missense possibly damaging 0.59
R1479:Pcx UTSW 19 4,652,052 (GRCm39) missense probably damaging 1.00
R1543:Pcx UTSW 19 4,652,251 (GRCm39) missense probably damaging 1.00
R1559:Pcx UTSW 19 4,669,114 (GRCm39) missense probably damaging 1.00
R1607:Pcx UTSW 19 4,653,187 (GRCm39) missense possibly damaging 0.89
R1833:Pcx UTSW 19 4,669,132 (GRCm39) missense probably damaging 0.98
R1866:Pcx UTSW 19 4,671,249 (GRCm39) missense possibly damaging 0.58
R2131:Pcx UTSW 19 4,652,579 (GRCm39) missense probably benign 0.00
R2172:Pcx UTSW 19 4,670,909 (GRCm39) missense probably benign 0.17
R2224:Pcx UTSW 19 4,668,026 (GRCm39) missense possibly damaging 0.46
R2226:Pcx UTSW 19 4,668,026 (GRCm39) missense possibly damaging 0.46
R2280:Pcx UTSW 19 4,654,571 (GRCm39) missense probably damaging 1.00
R3950:Pcx UTSW 19 4,667,995 (GRCm39) missense probably benign 0.00
R3952:Pcx UTSW 19 4,667,995 (GRCm39) missense probably benign 0.00
R4205:Pcx UTSW 19 4,669,194 (GRCm39) missense possibly damaging 0.95
R4409:Pcx UTSW 19 4,660,031 (GRCm39) missense possibly damaging 0.65
R4670:Pcx UTSW 19 4,669,916 (GRCm39) missense probably damaging 1.00
R4691:Pcx UTSW 19 4,669,505 (GRCm39) missense probably damaging 0.99
R4728:Pcx UTSW 19 4,653,124 (GRCm39) missense probably damaging 1.00
R4808:Pcx UTSW 19 4,670,956 (GRCm39) missense probably benign 0.00
R5200:Pcx UTSW 19 4,668,532 (GRCm39) missense probably damaging 1.00
R5454:Pcx UTSW 19 4,652,504 (GRCm39) missense probably damaging 1.00
R5621:Pcx UTSW 19 4,669,195 (GRCm39) missense possibly damaging 0.59
R5990:Pcx UTSW 19 4,671,294 (GRCm39) missense probably damaging 1.00
R6519:Pcx UTSW 19 4,652,239 (GRCm39) missense possibly damaging 0.64
R6526:Pcx UTSW 19 4,654,523 (GRCm39) missense probably benign 0.44
R7202:Pcx UTSW 19 4,652,361 (GRCm39) missense possibly damaging 0.47
R7423:Pcx UTSW 19 4,671,206 (GRCm39) missense probably benign 0.00
R7473:Pcx UTSW 19 4,669,589 (GRCm39) nonsense probably null
R7654:Pcx UTSW 19 4,565,697 (GRCm39) splice site probably null
R7963:Pcx UTSW 19 4,652,034 (GRCm39) missense probably damaging 1.00
R8272:Pcx UTSW 19 4,651,758 (GRCm39) missense probably damaging 1.00
R8693:Pcx UTSW 19 4,652,039 (GRCm39) missense probably damaging 1.00
R8781:Pcx UTSW 19 4,670,980 (GRCm39) missense probably damaging 1.00
R8829:Pcx UTSW 19 4,651,968 (GRCm39) missense probably damaging 1.00
R9084:Pcx UTSW 19 4,669,868 (GRCm39) missense probably damaging 1.00
R9334:Pcx UTSW 19 4,670,532 (GRCm39) missense probably benign 0.31
R9462:Pcx UTSW 19 4,651,970 (GRCm39) missense probably benign 0.00
R9540:Pcx UTSW 19 4,651,682 (GRCm39) missense probably benign
R9650:Pcx UTSW 19 4,657,714 (GRCm39) missense probably damaging 1.00
Z1176:Pcx UTSW 19 4,669,101 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TGGGTTAGATTTGCTTGCTCTCCAC -3'
(R):5'- GGCCACCTTGATGATGTCTGGAATG -3'

Sequencing Primer
(F):5'- GTAGCCTGCTCTAACCTAGAC -3'
(R):5'- AAGGTAGGCTTCATCAGCTTTC -3'
Posted On 2013-08-06