Incidental Mutation 'IGL00939:Pccb'
ID 28187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pccb
Ensembl Gene ENSMUSG00000032527
Gene Name propionyl Coenzyme A carboxylase, beta polypeptide
Synonyms 1300012P06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00939
Quality Score
Chromosome 9
Chromosomal Location 100864085-100916951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100867922 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99MN9
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

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

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: 35,981,359 (GRCm39) probably benign Het
Ash1l T C 3: 88,942,543 (GRCm39) V2061A probably damaging Het
Csnk1a1 A G 18: 61,708,521 (GRCm39) D194G probably damaging Het
Dop1b T A 16: 93,570,971 (GRCm39) S1657T possibly damaging Het
Hcn4 A G 9: 58,751,210 (GRCm39) I279V probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lamb1 T C 12: 31,352,926 (GRCm39) S828P probably damaging Het
Morc1 G A 16: 48,272,952 (GRCm39) C193Y probably damaging Het
Nudt16l1 T C 16: 4,757,299 (GRCm39) F71L probably benign Het
Nup50 T G 15: 84,822,621 (GRCm39) L381* probably null Het
Rnf19b A G 4: 128,965,582 (GRCm39) R227G probably damaging Het
Ror1 A G 4: 100,298,423 (GRCm39) I599V probably benign Het
Sipa1l2 A G 8: 126,191,174 (GRCm39) probably benign Het
Sowahb A T 5: 93,191,701 (GRCm39) D339E probably benign Het
Ssc5d C T 7: 4,939,280 (GRCm39) T572I possibly damaging Het
Tnn A G 1: 159,975,100 (GRCm39) L109P probably damaging Het
Ttn T C 2: 76,540,425 (GRCm39) Q34187R possibly damaging Het
Ube2j2 A G 4: 156,040,904 (GRCm39) E177G possibly damaging Het
Vmn2r103 A G 17: 20,015,227 (GRCm39) T456A probably benign Het
Wdr1 T C 5: 38,692,666 (GRCm39) T80A probably benign Het
Other mutations in Pccb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02101:Pccb APN 9 100,869,894 (GRCm39) missense possibly damaging 0.53
IGL02149:Pccb APN 9 100,867,243 (GRCm39) missense probably damaging 1.00
IGL02938:Pccb APN 9 100,866,449 (GRCm39) missense probably benign 0.35
PIT4402001:Pccb UTSW 9 100,877,645 (GRCm39) missense probably benign 0.01
R0446:Pccb UTSW 9 100,864,850 (GRCm39) missense probably damaging 1.00
R2128:Pccb UTSW 9 100,867,884 (GRCm39) missense probably damaging 1.00
R2292:Pccb UTSW 9 100,876,685 (GRCm39) missense probably benign
R3056:Pccb UTSW 9 100,912,250 (GRCm39) missense probably damaging 1.00
R4574:Pccb UTSW 9 100,867,252 (GRCm39) missense probably damaging 1.00
R4600:Pccb UTSW 9 100,916,832 (GRCm39) missense probably benign
R5087:Pccb UTSW 9 100,867,296 (GRCm39) intron probably benign
R5219:Pccb UTSW 9 100,867,262 (GRCm39) nonsense probably null
R5586:Pccb UTSW 9 100,867,856 (GRCm39) missense possibly damaging 0.87
R5724:Pccb UTSW 9 100,869,900 (GRCm39) missense probably benign 0.02
R6813:Pccb UTSW 9 100,905,268 (GRCm39) missense probably damaging 1.00
R6982:Pccb UTSW 9 100,905,349 (GRCm39) splice site probably null
R7253:Pccb UTSW 9 100,913,966 (GRCm39) missense probably benign 0.01
R7535:Pccb UTSW 9 100,876,615 (GRCm39) splice site probably null
R7795:Pccb UTSW 9 100,881,316 (GRCm39) missense probably damaging 1.00
R7822:Pccb UTSW 9 100,909,137 (GRCm39) missense probably damaging 1.00
R8298:Pccb UTSW 9 100,867,885 (GRCm39) missense probably damaging 1.00
R8809:Pccb UTSW 9 100,867,220 (GRCm39) nonsense probably null
R8888:Pccb UTSW 9 100,905,305 (GRCm39) splice site probably benign
R9115:Pccb UTSW 9 100,869,908 (GRCm39) missense probably damaging 1.00
R9260:Pccb UTSW 9 100,877,643 (GRCm39) missense probably benign 0.00
R9668:Pccb UTSW 9 100,876,634 (GRCm39) missense possibly damaging 0.70
Posted On 2013-04-17