Incidental Mutation 'R6519:Pcx'
ID 521052
Institutional Source Beutler Lab
Gene Symbol Pcx
Ensembl Gene ENSMUSG00000024892
Gene Name pyruvate carboxylase
Synonyms Pc
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6519 (G1)
Quality Score 151.008
Status Validated
Chromosome 19
Chromosomal Location 4560500-4671780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4652239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 108 (E108G)
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
AA Change: E109G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: E109G

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
AA Change: E108G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: E108G

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
AA Change: E108G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225189
AA Change: E108G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null 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
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
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'- ATCATCAAGGTGGCCAAGG -3'
(R):5'- CTCACGCCATCTTGTCACAG -3'

Sequencing Primer
(F):5'- GTAGGAGATGCCAGGGTTTCC -3'
(R):5'- CCTAGGAGGGCCTGTATTTCAC -3'
Posted On 2018-06-06