Incidental Mutation 'IGL02101:Pccb'
ID279751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pccb
Ensembl Gene ENSMUSG00000032527
Gene Namepropionyl Coenzyme A carboxylase, beta polypeptide
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02101
Quality Score
Status
Chromosome9
Chromosomal Location100982032-101034898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100987841 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 346 (F346L)
Ref Sequence ENSEMBL: ENSMUSP00000035116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000149322]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035116
AA Change: F346L

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: F346L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 59 539 6.2e-197 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149322
AA Change: F309L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: F309L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 59 187 2.3e-45 PFAM
Pfam:Carboxyl_trans 183 502 2.7e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149998
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 a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd163 T A 6: 124,307,287 C139* probably null Het
Ces2g A G 8: 104,965,137 probably null Het
Ckap5 T C 2: 91,572,540 probably benign Het
Cmtm7 T C 9: 114,763,268 H87R probably damaging Het
Dennd3 A G 15: 73,527,945 D220G possibly damaging Het
Dpp10 T C 1: 123,411,826 Y324C probably damaging Het
Dsc3 C T 18: 20,001,906 R7Q probably benign Het
Ezh1 T C 11: 101,195,566 K598E possibly damaging Het
Ighv7-3 A G 12: 114,153,425 L39P probably damaging Het
Il1rap T A 16: 26,624,182 S9R possibly damaging Het
Mrgpra3 A G 7: 47,589,552 C209R probably damaging Het
Oc90 G T 15: 65,897,789 P73Q probably damaging Het
Olfr164 T C 16: 19,286,613 I43M probably benign Het
Olfr401 G A 11: 74,121,745 W152* probably null Het
Pdxdc1 A G 16: 13,869,856 I225T probably damaging Het
Pold3 A T 7: 100,100,496 M154K probably damaging Het
Polr1a T G 6: 71,950,802 C846G probably benign Het
Ppip5k1 C A 2: 121,331,608 R978L possibly damaging Het
Ptpn4 A G 1: 119,687,678 V582A probably damaging Het
Sez6l G T 5: 112,472,746 Q323K probably damaging Het
Slc27a5 A T 7: 12,993,343 I384N possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc7a2 T C 8: 40,902,594 F227L probably benign Het
Smad4 C A 18: 73,658,652 A273S probably benign Het
Spata17 T C 1: 187,117,460 I84V probably benign Het
Sphkap T C 1: 83,290,987 T95A probably damaging Het
Tie1 T C 4: 118,472,798 D1076G probably benign Het
Other mutations in Pccb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Pccb APN 9 100985869 missense probably damaging 1.00
IGL02149:Pccb APN 9 100985190 missense probably damaging 1.00
IGL02938:Pccb APN 9 100984396 missense probably benign 0.35
PIT4402001:Pccb UTSW 9 100995592 missense probably benign 0.01
R0446:Pccb UTSW 9 100982797 missense probably damaging 1.00
R2128:Pccb UTSW 9 100985831 missense probably damaging 1.00
R2292:Pccb UTSW 9 100994632 missense probably benign
R3056:Pccb UTSW 9 101030197 missense probably damaging 1.00
R4574:Pccb UTSW 9 100985199 missense probably damaging 1.00
R4600:Pccb UTSW 9 101034779 missense probably benign
R5087:Pccb UTSW 9 100985243 intron probably benign
R5219:Pccb UTSW 9 100985209 nonsense probably null
R5586:Pccb UTSW 9 100985803 missense possibly damaging 0.87
R5724:Pccb UTSW 9 100987847 missense probably benign 0.02
R6813:Pccb UTSW 9 101023215 missense probably damaging 1.00
R6982:Pccb UTSW 9 101023296 splice site probably null
R7253:Pccb UTSW 9 101031913 missense probably benign 0.01
R7535:Pccb UTSW 9 100994562 splice site probably null
R7795:Pccb UTSW 9 100999263 missense probably damaging 1.00
R7822:Pccb UTSW 9 101027084 missense probably damaging 1.00
R8298:Pccb UTSW 9 100985832 missense probably damaging 1.00
Posted On2015-04-16