Incidental Mutation 'IGL00467:Pcca'
ID4133
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 #IGL00467
Quality Score
Status
Chromosome14
Chromosomal Location122534324-122891100 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122582629 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 62 (M62L)
Ref Sequence ENSEMBL: ENSMUSP00000120027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000135578] [ENSMUST00000154206]
Predicted Effect probably benign
Transcript: ENSMUST00000038374
AA Change: M101L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: M101L

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: ENSMUST00000135578
SMART Domains Protein: ENSMUSP00000123422
Gene: ENSMUSG00000041650

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 58 102 6.1e-15 PFAM
Pfam:CPSase_L_D2 116 163 9.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148172
Predicted Effect probably benign
Transcript: ENSMUST00000154206
AA Change: M62L

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120027
Gene: ENSMUSG00000041650
AA Change: M62L

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 43 128 5.7e-27 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,145,670 probably benign Het
Acvrl1 C A 15: 101,143,340 probably null Het
Ahnak T A 19: 9,007,223 M1957K probably damaging Het
Brinp3 A G 1: 146,901,774 D653G probably damaging Het
Dcstamp T A 15: 39,754,416 C74S probably benign Het
Esrrg A G 1: 188,210,910 E360G probably damaging Het
Fam13a C T 6: 58,940,113 probably benign Het
Fam208a A G 14: 27,448,164 N350S probably benign Het
Glipr1l1 A G 10: 112,078,381 T216A probably benign Het
Lama2 T A 10: 27,467,197 probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mta3 T A 17: 83,755,684 probably benign Het
Nfu1 A G 6: 87,020,773 M213V possibly damaging Het
Pam A T 1: 97,924,427 probably benign Het
Phf6 A G X: 52,931,646 Y25C probably damaging Het
Phlpp2 C T 8: 109,925,790 H589Y probably benign Het
Ppp1r13b A G 12: 111,829,370 I956T probably damaging Het
Prkcd G A 14: 30,602,422 probably benign Het
Rapgef4 A T 2: 72,256,312 N973I possibly damaging Het
Rnf20 G T 4: 49,655,480 E905* probably null Het
Slc26a6 T A 9: 108,855,889 D22E probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taf6l A T 19: 8,783,388 N57K probably benign Het
Tas2r109 C A 6: 132,980,023 V315L probably benign Het
Tex9 T C 9: 72,477,835 T240A probably benign Het
Trank1 G A 9: 111,364,666 probably benign Het
Trim30c A T 7: 104,382,182 Y475* probably null Het
Trim60 T C 8: 65,000,719 T293A possibly damaging Het
Ttc21b T C 2: 66,188,364 Y1233C probably damaging Het
Wdr75 A G 1: 45,802,075 I106V probably benign Het
Zkscan16 T C 4: 58,957,709 S664P possibly damaging Het
Other mutations in Pcca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Pcca APN 14 122690133 missense probably benign 0.34
IGL00975:Pcca APN 14 122876900 missense probably damaging 1.00
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
R8026:Pcca UTSW 14 122638382 missense probably benign 0.07
R8463:Pcca UTSW 14 122685114 splice site probably null
R8769:Pcca UTSW 14 122616848 missense probably benign 0.01
RF024:Pcca UTSW 14 122684898 missense probably damaging 1.00
X0026:Pcca UTSW 14 122616791 missense possibly damaging 0.51
Posted On2012-04-20