Incidental Mutation 'IGL02223:Pcx'
ID285237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcx
Ensembl Gene ENSMUSG00000024892
Gene Namepyruvate carboxylase
SynonymsPc
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02223
Quality Score
Status
Chromosome19
Chromosomal Location4510472-4621752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4601978 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 84 (Y84H)
Ref Sequence ENSEMBL: ENSMUSP00000153479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068004] [ENSMUST00000113825] [ENSMUST00000224726] [ENSMUST00000225189]
Predicted Effect probably damaging
Transcript: ENSMUST00000068004
AA Change: Y85H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
AA Change: Y85H

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 damaging
Transcript: ENSMUST00000113825
AA Change: Y84H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
AA Change: Y84H

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 damaging
Transcript: ENSMUST00000224726
AA Change: Y84H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225189
AA Change: Y84H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,287,935 W1148* probably null Het
Adam17 A G 12: 21,361,705 S62P possibly damaging Het
Akap8 T C 17: 32,316,647 Y131C probably damaging Het
Ccdc151 G A 9: 21,993,612 R293C probably damaging Het
Ccdc169 A G 3: 55,142,300 N48S probably benign Het
Ccdc80 A G 16: 45,095,603 T241A probably damaging Het
Cct7 G T 6: 85,462,041 M112I probably benign Het
Cftr G A 6: 18,221,482 A198T probably damaging Het
Crk T C 11: 75,703,379 V264A probably damaging Het
Ddx58 T C 4: 40,209,993 N692D possibly damaging Het
Dhx34 T C 7: 16,198,659 T1071A probably benign Het
Dlst A G 12: 85,130,918 I362V probably benign Het
Fat2 T C 11: 55,273,129 E3100G probably benign Het
Fbxo11 A G 17: 88,009,286 V323A probably benign Het
Foxe3 C A 4: 114,925,709 R102L probably damaging Het
Gale T C 4: 135,966,506 F162S probably damaging Het
Gipc2 G A 3: 152,128,050 P198L probably damaging Het
Gm5258 A G 1: 86,323,396 noncoding transcript Het
Gpatch11 A G 17: 78,845,179 T259A probably benign Het
H2-M10.3 T C 17: 36,368,080 N32S possibly damaging Het
Hdlbp T C 1: 93,412,449 I999V probably damaging Het
Ibtk A G 9: 85,710,366 probably benign Het
Ift46 A G 9: 44,786,312 S165G probably damaging Het
Igsf1 A G X: 49,785,020 S389P probably damaging Het
Lrrd1 A C 5: 3,850,211 N172T probably benign Het
Mamdc2 G A 19: 23,359,143 probably benign Het
Matn2 A G 15: 34,423,718 N574S probably benign Het
Med1 T C 11: 98,157,876 D683G probably damaging Het
Mon1a A G 9: 107,901,285 E236G probably damaging Het
Moxd2 T A 6: 40,885,033 I202F probably damaging Het
Nif3l1 T A 1: 58,448,043 Y129* probably null Het
Nlrp5 T C 7: 23,430,022 probably benign Het
Olfr177 C T 16: 58,872,694 G152E probably damaging Het
Pom121l2 T C 13: 21,982,095 S179P probably benign Het
Rexo4 C A 2: 26,955,499 C369F probably damaging Het
Scmh1 C A 4: 120,515,219 H406Q probably benign Het
Slc12a8 A G 16: 33,624,690 D372G probably damaging Het
Snip1 T C 4: 125,072,752 F325S possibly damaging Het
Spr-ps1 C T 6: 85,155,199 noncoding transcript Het
Stk36 A G 1: 74,623,337 Y538C possibly damaging Het
Svil A G 18: 5,105,879 probably benign Het
Syne2 A G 12: 76,108,305 T6787A probably benign Het
Tbcel T G 9: 42,451,718 M10L probably benign Het
Tesk2 T A 4: 116,741,825 Y43* probably null Het
Tjp1 C T 7: 65,322,601 R605Q probably damaging Het
Tmem65 A G 15: 58,790,151 probably benign Het
Tnnt2 A G 1: 135,842,015 probably benign Het
Trmt44 T C 5: 35,574,645 E134G probably benign Het
Trpv2 T C 11: 62,581,255 L91P probably benign Het
Ttn G A 2: 76,977,119 T90I probably damaging Het
Yy1 A G 12: 108,793,540 E43G unknown Het
Other mutations in Pcx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Pcx APN 19 4620937 missense probably benign 0.02
IGL01339:Pcx APN 19 4620235 unclassified probably null
IGL01373:Pcx APN 19 4620235 unclassified probably null
IGL01704:Pcx APN 19 4621060 missense probably damaging 1.00
PIT4151001:Pcx UTSW 19 4603129 missense probably damaging 1.00
R0098:Pcx UTSW 19 4601747 splice site probably benign
R0098:Pcx UTSW 19 4601747 splice site probably benign
R0211:Pcx UTSW 19 4620199 missense probably damaging 1.00
R0211:Pcx UTSW 19 4620199 missense probably damaging 1.00
R0398:Pcx UTSW 19 4601610 missense probably benign 0.35
R0414:Pcx UTSW 19 4607642 missense possibly damaging 0.60
R1402:Pcx UTSW 19 4602030 missense possibly damaging 0.59
R1402:Pcx UTSW 19 4602030 missense possibly damaging 0.59
R1479:Pcx UTSW 19 4602024 missense probably damaging 1.00
R1543:Pcx UTSW 19 4602223 missense probably damaging 1.00
R1559:Pcx UTSW 19 4619086 missense probably damaging 1.00
R1607:Pcx UTSW 19 4603159 missense possibly damaging 0.89
R1833:Pcx UTSW 19 4619104 missense probably damaging 0.98
R1866:Pcx UTSW 19 4621221 missense possibly damaging 0.58
R2131:Pcx UTSW 19 4602551 missense probably benign 0.00
R2172:Pcx UTSW 19 4620881 missense probably benign 0.17
R2224:Pcx UTSW 19 4617998 missense possibly damaging 0.46
R2226:Pcx UTSW 19 4617998 missense possibly damaging 0.46
R2280:Pcx UTSW 19 4604543 missense probably damaging 1.00
R3950:Pcx UTSW 19 4617967 missense probably benign 0.00
R3952:Pcx UTSW 19 4617967 missense probably benign 0.00
R4205:Pcx UTSW 19 4619166 missense possibly damaging 0.95
R4409:Pcx UTSW 19 4610003 missense possibly damaging 0.65
R4670:Pcx UTSW 19 4619888 missense probably damaging 1.00
R4691:Pcx UTSW 19 4619477 missense probably damaging 0.99
R4728:Pcx UTSW 19 4603096 missense probably damaging 1.00
R4808:Pcx UTSW 19 4620928 missense probably benign 0.00
R5200:Pcx UTSW 19 4618504 missense probably damaging 1.00
R5454:Pcx UTSW 19 4602476 missense probably damaging 1.00
R5621:Pcx UTSW 19 4619167 missense possibly damaging 0.59
R5990:Pcx UTSW 19 4621266 missense probably damaging 1.00
R6519:Pcx UTSW 19 4602211 missense possibly damaging 0.64
R6526:Pcx UTSW 19 4604495 missense probably benign 0.44
R7202:Pcx UTSW 19 4602333 missense possibly damaging 0.47
Posted On2015-04-16