Incidental Mutation 'IGL00939:Pccb'
ID28187
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 #IGL00939
Quality Score
Status
Chromosome9
Chromosomal Location100982032-101034898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100985869 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 372 (S372P)
Ref Sequence ENSEMBL: ENSMUSP00000035116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000149322]
Predicted Effect probably damaging
Transcript: ENSMUST00000035116
AA Change: S372P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: S372P

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 59 539 6.2e-197 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149322
AA Change: S335P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: S335P

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C A 5: 35,824,015 probably benign Het
Ash1l T C 3: 89,035,236 V2061A probably damaging Het
Csnk1a1 A G 18: 61,575,450 D194G probably damaging Het
Dopey2 T A 16: 93,774,083 S1657T possibly damaging Het
Hcn4 A G 9: 58,843,927 I279V probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lamb1 T C 12: 31,302,927 S828P probably damaging Het
Morc1 G A 16: 48,452,589 C193Y probably damaging Het
Nudt16l1 T C 16: 4,939,435 F71L probably benign Het
Nup50 T G 15: 84,938,420 L381* probably null Het
Rnf19b A G 4: 129,071,789 R227G probably damaging Het
Ror1 A G 4: 100,441,226 I599V probably benign Het
Sipa1l2 A G 8: 125,464,435 probably benign Het
Sowahb A T 5: 93,043,842 D339E probably benign Het
Ssc5d C T 7: 4,936,281 T572I possibly damaging Het
Tnn A G 1: 160,147,530 L109P probably damaging Het
Ttn T C 2: 76,710,081 Q34187R possibly damaging Het
Ube2j2 A G 4: 155,956,447 E177G possibly damaging Het
Vmn2r103 A G 17: 19,794,965 T456A probably benign Het
Wdr1 T C 5: 38,535,323 T80A probably benign Het
Other mutations in Pccb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02101:Pccb APN 9 100987841 missense possibly damaging 0.53
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 On2013-04-17