Incidental Mutation 'R3056:Pccb'
ID 265181
Institutional Source Beutler Lab
Gene Symbol Pccb
Ensembl Gene ENSMUSG00000032527
Gene Name propionyl Coenzyme A carboxylase, beta polypeptide
Synonyms 1300012P06Rik
MMRRC Submission 040565-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3056 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 100864085-100916951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100912250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 79 (R79Q)
Ref Sequence ENSEMBL: ENSMUSP00000123421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000142676] [ENSMUST00000149322] [ENSMUST00000189498]
AlphaFold Q99MN9
Predicted Effect probably damaging
Transcript: ENSMUST00000035116
AA Change: R119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: R119Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 59 539 6.2e-197 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142676
AA Change: R79Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123421
Gene: ENSMUSG00000032527
AA Change: R79Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 52 256 3.2e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145091
Predicted Effect probably damaging
Transcript: ENSMUST00000149322
AA Change: R119Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: R119Q

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 probably benign
Transcript: ENSMUST00000189498
SMART Domains Protein: ENSMUSP00000140354
Gene: ENSMUSG00000032527

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Carboxyl_trans 59 102 2.8e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca1 A T 4: 53,127,626 (GRCm39) M131K probably benign Het
Agbl1 C T 7: 76,416,232 (GRCm39) T751M possibly damaging Het
Asb14 A G 14: 26,636,146 (GRCm39) I510V possibly damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
C6 T C 15: 4,769,355 (GRCm39) I187T probably damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cplane1 T C 15: 8,280,491 (GRCm39) S2805P unknown Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Dnah7b A G 1: 46,307,869 (GRCm39) D3061G possibly damaging Het
Epas1 T C 17: 87,138,409 (GRCm39) F835S probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gpatch11 A G 17: 79,151,272 (GRCm39) T228A probably damaging Het
Greb1 G T 12: 16,738,592 (GRCm39) T1457K probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lmx1b G A 2: 33,457,297 (GRCm39) Q168* probably null Het
Ltbp3 C A 19: 5,801,434 (GRCm39) N659K probably benign Het
Micos13 A G 17: 56,915,889 (GRCm39) F55S probably damaging Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Nlgn1 T C 3: 25,487,860 (GRCm39) N825S possibly damaging Het
Or5d36 T A 2: 87,901,583 (GRCm39) T48S probably benign Het
Or5p67 A T 7: 107,922,757 (GRCm39) V42E possibly damaging Het
Or8k3b C A 2: 86,520,896 (GRCm39) C141F possibly damaging Het
Peg10 G A 6: 4,755,029 (GRCm39) R270H possibly damaging Het
Pttg1ip2 A T 5: 5,507,283 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tmem92 C T 11: 94,669,873 (GRCm39) C86Y probably benign Het
Tnfrsf8 C T 4: 145,011,895 (GRCm39) probably null Het
Tnks1bp1 T A 2: 84,900,344 (GRCm39) C1433* probably null Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn2r110 T A 17: 20,803,360 (GRCm39) Y405F probably damaging Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Other mutations in Pccb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Pccb APN 9 100,867,922 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTCATGTAACACACTGCTTCTAG -3'
(R):5'- AACCCCACATTCTACATTGCTACTG -3'

Sequencing Primer
(F):5'- GTGTGTCTGAAAACAGTGACCCTTC -3'
(R):5'- CACGAAAAGGAAGTATTTGTTG -3'
Posted On 2015-02-05