Incidental Mutation 'R9668:Pccb'
ID 727933
Institutional Source Beutler Lab
Gene Symbol Pccb
Ensembl Gene ENSMUSG00000032527
Gene Name propionyl Coenzyme A carboxylase, beta polypeptide
Synonyms 1300012P06Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9668 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 100864085-100916951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100876634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 320 (D320G)
Ref Sequence ENSEMBL: ENSMUSP00000035116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035116] [ENSMUST00000142676] [ENSMUST00000149322]
AlphaFold Q99MN9
Predicted Effect possibly damaging
Transcript: ENSMUST00000035116
AA Change: D320G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: D320G

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 possibly damaging
Transcript: ENSMUST00000149322
AA Change: D283G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: D283G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 G T 11: 116,089,137 (GRCm39) Y60* probably null Het
Acp7 T A 7: 28,314,562 (GRCm39) probably null Het
Adamts17 G A 7: 66,797,438 (GRCm39) V1052I possibly damaging Het
Ankrd13b T A 11: 77,368,594 (GRCm39) E42V possibly damaging Het
Ano1 C A 7: 144,164,579 (GRCm39) probably null Het
Atp5pb C T 3: 105,863,356 (GRCm39) V27I probably benign Het
C2cd2 A G 16: 97,671,418 (GRCm39) S494P probably damaging Het
Cd320 G A 17: 34,065,113 (GRCm39) C82Y probably damaging Het
Cdc16 T A 8: 13,817,552 (GRCm39) S288T possibly damaging Het
Chrne A G 11: 70,507,779 (GRCm39) probably null Het
Col12a1 G A 9: 79,546,960 (GRCm39) Q2291* probably null Het
Cps1 A G 1: 67,213,649 (GRCm39) S794G probably benign Het
Csmd1 A T 8: 16,261,772 (GRCm39) D908E probably benign Het
Dpf1 C T 7: 29,009,084 (GRCm39) Q70* probably null Het
Fam227a A T 15: 79,526,444 (GRCm39) N129K probably benign Het
Fcho2 T A 13: 98,913,965 (GRCm39) I211F probably benign Het
Fezf1 T C 6: 23,247,574 (GRCm39) D167G probably benign Het
Flt3 G A 5: 147,293,694 (GRCm39) P461S probably benign Het
Fry G T 5: 150,282,318 (GRCm39) A314S probably damaging Het
Gm6309 A G 5: 146,105,026 (GRCm39) S296P probably benign Het
Gmppb T G 9: 107,928,362 (GRCm39) V291G probably damaging Het
Hmcn1 G T 1: 150,619,492 (GRCm39) S1207R probably benign Het
Iars1 C T 13: 49,840,885 (GRCm39) P6L probably damaging Het
Kdm5d T A Y: 943,075 (GRCm39) S1519R possibly damaging Het
Kpna2 G A 11: 106,881,541 (GRCm39) T363I probably damaging Het
Lrp1b A T 2: 41,075,982 (GRCm39) H1886Q Het
Meak7 T C 8: 120,488,514 (GRCm39) E436G probably damaging Het
Mettl5 C T 2: 69,711,723 (GRCm39) D48N probably benign Het
Mfsd4a C T 1: 131,969,628 (GRCm39) G442S probably damaging Het
Mief2 A G 11: 60,622,074 (GRCm39) T215A probably damaging Het
Myt1 C T 2: 181,452,135 (GRCm39) T824I probably damaging Het
Naprt C A 15: 75,765,281 (GRCm39) V148L possibly damaging Het
Nckap1l C T 15: 103,382,277 (GRCm39) R491C probably damaging Het
Nr1i2 A G 16: 38,071,573 (GRCm39) M321T possibly damaging Het
Nup107 A T 10: 117,610,383 (GRCm39) I355N possibly damaging Het
Or10j2 G A 1: 173,098,183 (GRCm39) G147D possibly damaging Het
Or10x4 A T 1: 174,218,898 (GRCm39) N88Y probably benign Het
Or1e28-ps1 A G 11: 73,615,658 (GRCm39) I64T probably benign Het
Or1l4b T G 2: 37,036,518 (GRCm39) M98R probably damaging Het
Or4a80 T G 2: 89,582,636 (GRCm39) I179L probably benign Het
Or4k35 T G 2: 111,100,287 (GRCm39) I142L probably benign Het
Pcdhgb6 A T 18: 37,875,561 (GRCm39) I90L probably benign Het
Pik3r2 A G 8: 71,221,459 (GRCm39) S682P probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plagl1 A G 10: 13,004,466 (GRCm39) Q578R unknown Het
Ppp1r42 A G 1: 10,073,563 (GRCm39) I9T probably benign Het
Ptcd3 A T 6: 71,871,275 (GRCm39) I315K possibly damaging Het
Rnf217 A G 10: 31,484,402 (GRCm39) L260P probably damaging Het
Selp A T 1: 163,968,975 (GRCm39) H525L possibly damaging Het
Sh3rf2 T A 18: 42,244,347 (GRCm39) M303K probably benign Het
Shprh A T 10: 11,082,076 (GRCm39) I1549F probably damaging Het
Slc38a7 G T 8: 96,570,772 (GRCm39) A244D probably benign Het
Stxbp6 G T 12: 44,949,740 (GRCm39) T63K probably damaging Het
Syne3 A G 12: 104,898,468 (GRCm39) S962P probably damaging Het
Syt10 T C 15: 89,711,135 (GRCm39) I133V probably damaging Het
Tars1 T A 15: 11,394,446 (GRCm39) K64* probably null Het
Tcaf3 A T 6: 42,566,636 (GRCm39) W818R probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tmem70 A C 1: 16,735,659 (GRCm39) E43A probably benign Het
Trim72 C A 7: 127,609,092 (GRCm39) A298E probably damaging Het
Washc5 C T 15: 59,218,062 (GRCm39) probably null Het
Zfp707 C A 15: 75,847,085 (GRCm39) F378L possibly damaging Het
Zfp839 G A 12: 110,822,280 (GRCm39) A365T 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
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
Predicted Primers PCR Primer
(F):5'- CTGAGCTCTCATGACGTCACAG -3'
(R):5'- GTCTGCCTAGTGACATGGTG -3'

Sequencing Primer
(F):5'- TCTCATGACGTCACAGCCACC -3'
(R):5'- CCTAGTGACATGGTGGCAGG -3'
Posted On 2022-10-06