Incidental Mutation 'IGL00975:Pcca'
ID28996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Namepropionyl-Coenzyme A carboxylase, alpha polypeptide
SynonymsC79630
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00975
Quality Score
Status
Chromosome14
Chromosomal Location122534324-122891100 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122876900 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 82 (D82G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000110679] [ENSMUST00000152383]
Predicted Effect probably damaging
Transcript: ENSMUST00000038374
AA Change: D675G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: D675G

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: ENSMUST00000110679
SMART Domains Protein: ENSMUSP00000135487
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:AIG2 4 71 3.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132444
AA Change: D82G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140517
Predicted Effect probably damaging
Transcript: ENSMUST00000152383
AA Change: D155G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650
AA Change: D155G

DomainStartEndE-ValueType
Pfam:SLT_beta 32 106 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177312
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,336,465 M1L probably benign Het
Atxn7l3 A G 11: 102,294,981 S3P probably benign Het
Ccdc114 A T 7: 45,942,656 K320I probably damaging Het
Cep112 A G 11: 108,434,186 D70G probably damaging Het
Col20a1 G A 2: 180,992,478 A79T probably damaging Het
Cycs T A 6: 50,565,367 D63V probably benign Het
Dis3 A G 14: 99,079,234 V855A probably damaging Het
Dnah6 T A 6: 73,173,390 I797F possibly damaging Het
Dpagt1 T C 9: 44,332,652 probably null Het
Dst T C 1: 34,188,312 I1840T possibly damaging Het
Epb41l3 C T 17: 69,207,861 probably benign Het
Fam20c C T 5: 138,809,157 H514Y probably benign Het
Fgd6 A T 10: 94,134,076 M1196L probably damaging Het
Fmo3 T C 1: 162,964,030 D226G probably benign Het
Fsd1l T C 4: 53,682,187 L263P probably damaging Het
Gaa C A 11: 119,274,683 T333K possibly damaging Het
Gm10530 T C 1: 159,684,874 probably benign Het
Gm5458 A G 14: 19,599,667 L163P probably damaging Het
Inpp5j T C 11: 3,502,176 N358S probably damaging Het
Ms4a8a A G 19: 11,070,787 L193P probably damaging Het
Neb T C 2: 52,212,728 K4511R probably benign Het
Olfr1436 A G 19: 12,298,785 S116P probably damaging Het
Pou2f3 T C 9: 43,137,384 T266A probably benign Het
Ppp1r26 T A 2: 28,453,718 L1120Q probably damaging Het
Pudp T G 18: 50,568,278 K128T probably damaging Het
Rcn1 T C 2: 105,394,829 T94A possibly damaging Het
Six5 T C 7: 19,097,678 L698P probably damaging Het
Slc13a4 T A 6: 35,274,975 M461L probably benign Het
Slc30a9 T C 5: 67,349,826 V487A probably damaging Het
Tbx21 T C 11: 97,100,082 I257V possibly damaging Het
Tg A G 15: 66,681,882 D382G probably benign Het
Trim34b C A 7: 104,329,652 C35* probably null Het
Usp47 A G 7: 112,093,370 D1013G probably damaging Het
Other mutations in Pcca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pcca APN 14 122582629 missense probably benign 0.22
IGL00906:Pcca APN 14 122690133 missense probably benign 0.34
IGL01329:Pcca APN 14 122690133 missense possibly damaging 0.50
IGL01353:Pcca APN 14 122582617 missense probably damaging 0.98
IGL01672:Pcca APN 14 122690145 missense probably benign 0.02
IGL02621:Pcca APN 14 122684979 missense probably damaging 0.99
IGL02695:Pcca APN 14 122582738 splice site probably benign
IGL02749:Pcca APN 14 122534388 missense probably benign 0.00
IGL02971:Pcca APN 14 122889533 missense probably damaging 0.96
IGL03290:Pcca APN 14 122585106 missense possibly damaging 0.52
IGL03052:Pcca UTSW 14 122887101 missense probably benign
PIT4812001:Pcca UTSW 14 122790382 missense probably benign 0.00
R0549:Pcca UTSW 14 122638377 splice site probably benign
R0866:Pcca UTSW 14 122889545 missense possibly damaging 0.95
R1498:Pcca UTSW 14 122616818 missense probably damaging 1.00
R1749:Pcca UTSW 14 122701130 missense probably damaging 0.97
R2002:Pcca UTSW 14 122887065 missense probably benign 0.00
R2020:Pcca UTSW 14 122813222 missense possibly damaging 0.64
R2086:Pcca UTSW 14 122686115 missense probably damaging 0.99
R3780:Pcca UTSW 14 122684885 missense probably damaging 1.00
R5023:Pcca UTSW 14 122790398 missense probably damaging 1.00
R5643:Pcca UTSW 14 122887069 missense probably damaging 1.00
R5644:Pcca UTSW 14 122887069 missense probably damaging 1.00
R5943:Pcca UTSW 14 122658776 missense probably damaging 0.99
R5966:Pcca UTSW 14 122668586 missense probably damaging 0.96
R6295:Pcca UTSW 14 122658775 missense probably benign 0.10
R6317:Pcca UTSW 14 122582623 missense probably damaging 1.00
R6319:Pcca UTSW 14 122582623 missense probably damaging 1.00
R6361:Pcca UTSW 14 122638382 missense probably benign 0.07
R6989:Pcca UTSW 14 122650288 missense probably damaging 1.00
R7243:Pcca UTSW 14 122876774 missense probably benign
R7841:Pcca UTSW 14 122562972 missense probably benign 0.03
R7924:Pcca UTSW 14 122562972 missense probably benign 0.03
RF024:Pcca UTSW 14 122684898 missense probably damaging 1.00
X0026:Pcca UTSW 14 122616791 missense possibly damaging 0.51
Posted On2013-04-17