Incidental Mutation 'R2292:Pccb'
ID 245044
Institutional Source Beutler Lab
Gene Symbol Pccb
Ensembl Gene ENSMUSG00000032527
Gene Name propionyl Coenzyme A carboxylase, beta polypeptide
Synonyms 1300012P06Rik
MMRRC Submission 040291-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2292 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 100864085-100916951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100876685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 266 (E266G)
Ref Sequence ENSEMBL: ENSMUSP00000118006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000142676] [ENSMUST00000149322]
AlphaFold Q99MN9
Predicted Effect probably benign
Transcript: ENSMUST00000035116
AA Change: E303G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: E303G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 59 539 6.2e-197 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142676
SMART Domains Protein: ENSMUSP00000123421
Gene: ENSMUSG00000032527

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Carboxyl_trans 52 256 3.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149322
AA Change: E266G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: E266G

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
Meta Mutation Damage Score 0.1742 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,483 (GRCm39) I370T probably benign Het
A2m A G 6: 121,650,518 (GRCm39) T1209A possibly damaging Het
Als2 T C 1: 59,226,544 (GRCm39) Q920R probably damaging Het
Arhgap20 T A 9: 51,760,743 (GRCm39) Y829N possibly damaging Het
Arhgap35 A T 7: 16,297,476 (GRCm39) F530I probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Ascc2 T C 11: 4,629,352 (GRCm39) probably benign Het
Cacna1b C T 2: 24,496,632 (GRCm39) V2312I probably benign Het
Dctn6 T C 8: 34,559,679 (GRCm39) T159A probably benign Het
Ddx55 G T 5: 124,706,140 (GRCm39) A522S probably benign Het
Dnah6 G A 6: 72,998,092 (GRCm39) T4110I probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dym A G 18: 75,332,283 (GRCm39) T504A possibly damaging Het
E130308A19Rik T C 4: 59,690,579 (GRCm39) Y138H probably damaging Het
Fgd4 A T 16: 16,253,864 (GRCm39) C568S possibly damaging Het
Fkbp4 A C 6: 128,413,625 (GRCm39) V6G probably damaging Het
Flg2 A T 3: 93,127,984 (GRCm39) S2299C unknown Het
Gdf2 A T 14: 33,667,145 (GRCm39) N289I possibly damaging Het
Gpr182 A G 10: 127,586,051 (GRCm39) I300T possibly damaging Het
Iqcg A G 16: 32,870,253 (GRCm39) V80A probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lyst T G 13: 13,915,080 (GRCm39) F3258C probably damaging Het
Map3k12 T C 15: 102,408,574 (GRCm39) E870G probably damaging Het
Mphosph10 G A 7: 64,035,519 (GRCm39) P384L probably damaging Het
Ncoa4 T G 14: 31,895,413 (GRCm39) L179R probably damaging Het
Nlrp1c-ps A G 11: 71,137,188 (GRCm39) noncoding transcript Het
Nwd2 A T 5: 63,962,917 (GRCm39) M834L probably benign Het
Or10a49 A T 7: 108,468,223 (GRCm39) M46K probably benign Het
Or2w6 A G 13: 21,843,001 (GRCm39) M164T probably damaging Het
Pcdhb2 T A 18: 37,430,297 (GRCm39) probably null Het
Pramel25 T C 4: 143,520,446 (GRCm39) I66T probably benign Het
Prdm13 A C 4: 21,683,914 (GRCm39) I119S unknown Het
Tchh A G 3: 93,349,689 (GRCm39) Y18C probably damaging Het
Tmem192 T C 8: 65,411,998 (GRCm39) V59A probably damaging Het
Trak2 A T 1: 58,974,916 (GRCm39) F92Y probably damaging Het
Trappc11 C T 8: 47,958,771 (GRCm39) G40D probably damaging Het
Ttc23 A T 7: 67,319,535 (GRCm39) I132F probably benign Het
Ttc9b A G 7: 27,355,405 (GRCm39) D225G probably benign Het
Ubr3 G T 2: 69,727,604 (GRCm39) probably benign Het
Vmn2r75 A C 7: 85,798,144 (GRCm39) C556W probably damaging Het
Zbtb41 T C 1: 139,368,097 (GRCm39) V595A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGTGCAAACGTTGAGACCAAG -3'
(R):5'- CCATTCTGGAAGGGCAAAGG -3'

Sequencing Primer
(F):5'- ACGTTGAGACCAAGCTGAAC -3'
(R):5'- TTCTGGAAGGGCAAAGGCAAAC -3'
Posted On 2014-10-30