Incidental Mutation 'IGL02621:Pcca'
ID 300849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Name propionyl-Coenzyme A carboxylase, alpha polypeptide
Synonyms C79630
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02621
Quality Score
Status
Chromosome 14
Chromosomal Location 122771736-123128512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122922391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 384 (D384V)
Ref Sequence ENSEMBL: ENSMUSP00000038763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374]
AlphaFold Q91ZA3
Predicted Effect probably damaging
Transcript: ENSMUST00000038374
AA Change: D384V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: D384V

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 58 167 2.1e-48 PFAM
Pfam:ATP-grasp_4 169 351 3.8e-15 PFAM
Pfam:RimK 170 372 5.6e-7 PFAM
Pfam:CPSase_L_D2 172 381 2.8e-87 PFAM
Pfam:ATP-grasp 181 351 9.8e-10 PFAM
Pfam:Dala_Dala_lig_C 192 349 7.7e-12 PFAM
Biotin_carb_C 393 501 4.27e-46 SMART
Pfam:Biotin_lipoyl 656 723 1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226674
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Esrrb A G 12: 86,468,735 (GRCm39) N16S probably benign Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Hint1 G T 11: 54,761,011 (GRCm39) probably benign Het
Itch A T 2: 155,014,504 (GRCm39) probably null Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Mapk4 A T 18: 74,103,346 (GRCm39) S54R probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pamr1 A G 2: 102,464,688 (GRCm39) N279S probably benign Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Slco1a5 T A 6: 142,187,741 (GRCm39) M533L probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Pcca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pcca APN 14 122,820,041 (GRCm39) missense probably benign 0.22
IGL00906:Pcca APN 14 122,927,545 (GRCm39) missense probably benign 0.34
IGL00975:Pcca APN 14 123,114,312 (GRCm39) missense probably damaging 1.00
IGL01329:Pcca APN 14 122,927,545 (GRCm39) missense possibly damaging 0.50
IGL01353:Pcca APN 14 122,820,029 (GRCm39) missense probably damaging 0.98
IGL01672:Pcca APN 14 122,927,557 (GRCm39) missense probably benign 0.02
IGL02695:Pcca APN 14 122,820,150 (GRCm39) splice site probably benign
IGL02749:Pcca APN 14 122,771,800 (GRCm39) missense probably benign 0.00
IGL02971:Pcca APN 14 123,126,945 (GRCm39) missense probably damaging 0.96
IGL03290:Pcca APN 14 122,822,518 (GRCm39) missense possibly damaging 0.52
IGL03052:Pcca UTSW 14 123,124,513 (GRCm39) missense probably benign
PIT4812001:Pcca UTSW 14 123,027,794 (GRCm39) missense probably benign 0.00
R0549:Pcca UTSW 14 122,875,789 (GRCm39) splice site probably benign
R0866:Pcca UTSW 14 123,126,957 (GRCm39) missense possibly damaging 0.95
R1498:Pcca UTSW 14 122,854,230 (GRCm39) missense probably damaging 1.00
R1749:Pcca UTSW 14 122,938,542 (GRCm39) missense probably damaging 0.97
R2002:Pcca UTSW 14 123,124,477 (GRCm39) missense probably benign 0.00
R2020:Pcca UTSW 14 123,050,634 (GRCm39) missense possibly damaging 0.64
R2086:Pcca UTSW 14 122,923,527 (GRCm39) missense probably damaging 0.99
R3780:Pcca UTSW 14 122,922,297 (GRCm39) missense probably damaging 1.00
R5023:Pcca UTSW 14 123,027,810 (GRCm39) missense probably damaging 1.00
R5643:Pcca UTSW 14 123,124,481 (GRCm39) missense probably damaging 1.00
R5644:Pcca UTSW 14 123,124,481 (GRCm39) missense probably damaging 1.00
R5943:Pcca UTSW 14 122,896,188 (GRCm39) missense probably damaging 0.99
R5966:Pcca UTSW 14 122,905,998 (GRCm39) missense probably damaging 0.96
R6295:Pcca UTSW 14 122,896,187 (GRCm39) missense probably benign 0.10
R6317:Pcca UTSW 14 122,820,035 (GRCm39) missense probably damaging 1.00
R6319:Pcca UTSW 14 122,820,035 (GRCm39) missense probably damaging 1.00
R6361:Pcca UTSW 14 122,875,794 (GRCm39) missense probably benign 0.07
R6989:Pcca UTSW 14 122,887,700 (GRCm39) missense probably damaging 1.00
R7243:Pcca UTSW 14 123,114,186 (GRCm39) missense probably benign
R7841:Pcca UTSW 14 122,800,384 (GRCm39) missense probably benign 0.03
R8026:Pcca UTSW 14 122,875,794 (GRCm39) missense probably benign 0.07
R8463:Pcca UTSW 14 122,922,526 (GRCm39) splice site probably null
R8769:Pcca UTSW 14 122,854,260 (GRCm39) missense probably benign 0.01
R8889:Pcca UTSW 14 122,795,123 (GRCm39) splice site probably benign
R8956:Pcca UTSW 14 122,975,324 (GRCm39) missense probably benign
R9287:Pcca UTSW 14 122,854,178 (GRCm39) missense probably benign 0.00
R9336:Pcca UTSW 14 122,887,738 (GRCm39) missense probably benign 0.04
R9447:Pcca UTSW 14 122,854,290 (GRCm39) missense probably damaging 0.99
R9606:Pcca UTSW 14 122,901,717 (GRCm39) missense probably damaging 1.00
RF024:Pcca UTSW 14 122,922,310 (GRCm39) missense probably damaging 1.00
X0026:Pcca UTSW 14 122,854,203 (GRCm39) missense possibly damaging 0.51
Posted On 2015-04-16