Incidental Mutation 'R5943:Pcca'
ID 460444
Institutional Source Beutler Lab
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Name propionyl-Coenzyme A carboxylase, alpha polypeptide
Synonyms C79630
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5943 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 122771736-123128512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122896188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 268 (I268N)
Ref Sequence ENSEMBL: ENSMUSP00000038763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374]
AlphaFold Q91ZA3
Predicted Effect probably damaging
Transcript: ENSMUST00000038374
AA Change: I268N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: I268N

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 58 167 2.1e-48 PFAM
Pfam:ATP-grasp_4 169 351 3.8e-15 PFAM
Pfam:RimK 170 372 5.6e-7 PFAM
Pfam:CPSase_L_D2 172 381 2.8e-87 PFAM
Pfam:ATP-grasp 181 351 9.8e-10 PFAM
Pfam:Dala_Dala_lig_C 192 349 7.7e-12 PFAM
Biotin_carb_C 393 501 4.27e-46 SMART
Pfam:Biotin_lipoyl 656 723 1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143240
Predicted Effect unknown
Transcript: ENSMUST00000177312
AA Change: I149N
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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 the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Pcca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pcca APN 14 122,820,041 (GRCm39) missense probably benign 0.22
IGL00906:Pcca APN 14 122,927,545 (GRCm39) missense probably benign 0.34
IGL00975:Pcca APN 14 123,114,312 (GRCm39) missense probably damaging 1.00
IGL01329:Pcca APN 14 122,927,545 (GRCm39) missense possibly damaging 0.50
IGL01353:Pcca APN 14 122,820,029 (GRCm39) missense probably damaging 0.98
IGL01672:Pcca APN 14 122,927,557 (GRCm39) missense probably benign 0.02
IGL02621:Pcca APN 14 122,922,391 (GRCm39) missense probably damaging 0.99
IGL02695:Pcca APN 14 122,820,150 (GRCm39) splice site probably benign
IGL02749:Pcca APN 14 122,771,800 (GRCm39) missense probably benign 0.00
IGL02971:Pcca APN 14 123,126,945 (GRCm39) missense probably damaging 0.96
IGL03290:Pcca APN 14 122,822,518 (GRCm39) missense possibly damaging 0.52
IGL03052:Pcca UTSW 14 123,124,513 (GRCm39) missense probably benign
PIT4812001:Pcca UTSW 14 123,027,794 (GRCm39) missense probably benign 0.00
R0549:Pcca UTSW 14 122,875,789 (GRCm39) splice site probably benign
R0866:Pcca UTSW 14 123,126,957 (GRCm39) missense possibly damaging 0.95
R1498:Pcca UTSW 14 122,854,230 (GRCm39) missense probably damaging 1.00
R1749:Pcca UTSW 14 122,938,542 (GRCm39) missense probably damaging 0.97
R2002:Pcca UTSW 14 123,124,477 (GRCm39) missense probably benign 0.00
R2020:Pcca UTSW 14 123,050,634 (GRCm39) missense possibly damaging 0.64
R2086:Pcca UTSW 14 122,923,527 (GRCm39) missense probably damaging 0.99
R3780:Pcca UTSW 14 122,922,297 (GRCm39) missense probably damaging 1.00
R5023:Pcca UTSW 14 123,027,810 (GRCm39) missense probably damaging 1.00
R5643:Pcca UTSW 14 123,124,481 (GRCm39) missense probably damaging 1.00
R5644:Pcca UTSW 14 123,124,481 (GRCm39) missense probably damaging 1.00
R5966:Pcca UTSW 14 122,905,998 (GRCm39) missense probably damaging 0.96
R6295:Pcca UTSW 14 122,896,187 (GRCm39) missense probably benign 0.10
R6317:Pcca UTSW 14 122,820,035 (GRCm39) missense probably damaging 1.00
R6319:Pcca UTSW 14 122,820,035 (GRCm39) missense probably damaging 1.00
R6361:Pcca UTSW 14 122,875,794 (GRCm39) missense probably benign 0.07
R6989:Pcca UTSW 14 122,887,700 (GRCm39) missense probably damaging 1.00
R7243:Pcca UTSW 14 123,114,186 (GRCm39) missense probably benign
R7841:Pcca UTSW 14 122,800,384 (GRCm39) missense probably benign 0.03
R8026:Pcca UTSW 14 122,875,794 (GRCm39) missense probably benign 0.07
R8463:Pcca UTSW 14 122,922,526 (GRCm39) splice site probably null
R8769:Pcca UTSW 14 122,854,260 (GRCm39) missense probably benign 0.01
R8889:Pcca UTSW 14 122,795,123 (GRCm39) splice site probably benign
R8956:Pcca UTSW 14 122,975,324 (GRCm39) missense probably benign
R9287:Pcca UTSW 14 122,854,178 (GRCm39) missense probably benign 0.00
R9336:Pcca UTSW 14 122,887,738 (GRCm39) missense probably benign 0.04
R9447:Pcca UTSW 14 122,854,290 (GRCm39) missense probably damaging 0.99
R9606:Pcca UTSW 14 122,901,717 (GRCm39) missense probably damaging 1.00
RF024:Pcca UTSW 14 122,922,310 (GRCm39) missense probably damaging 1.00
X0026:Pcca UTSW 14 122,854,203 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TGTAGTGAGTCTAATCTGTTCCCCG -3'
(R):5'- AGTCATGGAAGACACTGCTG -3'

Sequencing Primer
(F):5'- CCCGTTTTTCTTAATTAAGCTGAAAC -3'
(R):5'- GCTGGAATTTGAACTCAGGACCTC -3'
Posted On 2017-02-28