Incidental Mutation 'R6319:Pcca'
ID 509353
Institutional Source Beutler Lab
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Name propionyl-Coenzyme A carboxylase, alpha polypeptide
Synonyms C79630
MMRRC Submission 044474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6319 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 122771736-123128512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122820035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 60 (V60M)
Ref Sequence ENSEMBL: ENSMUSP00000120027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000135578] [ENSMUST00000154206]
AlphaFold Q91ZA3
Predicted Effect probably damaging
Transcript: ENSMUST00000038374
AA Change: V99M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: V99M

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 probably benign
Transcript: ENSMUST00000135578
SMART Domains Protein: ENSMUSP00000123422
Gene: ENSMUSG00000041650

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 58 102 6.1e-15 PFAM
Pfam:CPSase_L_D2 116 163 9.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148172
Predicted Effect probably damaging
Transcript: ENSMUST00000154206
AA Change: V60M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120027
Gene: ENSMUSG00000041650
AA Change: V60M

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 43 128 5.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177312
Meta Mutation Damage Score 0.4803 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,651,723 (GRCm39) S372P probably benign Het
Adam34 A G 8: 44,104,952 (GRCm39) I231T probably benign Het
Adgrg6 T A 10: 14,307,366 (GRCm39) H840L probably damaging Het
Akap11 T C 14: 78,750,978 (GRCm39) T470A probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
B430306N03Rik A T 17: 48,623,771 (GRCm39) Q24L probably damaging Het
Bmp6 A T 13: 38,530,390 (GRCm39) H161L probably benign Het
Cdca8 C A 4: 124,815,087 (GRCm39) D177Y possibly damaging Het
Col14a1 A G 15: 55,379,565 (GRCm39) T1693A probably damaging Het
Cpsf1 A G 15: 76,481,167 (GRCm39) S1230P probably damaging Het
Dcaf13 A G 15: 39,007,067 (GRCm39) T334A probably benign Het
Dhx32 A C 7: 133,338,955 (GRCm39) V360G probably damaging Het
Dmxl1 A G 18: 49,985,367 (GRCm39) T205A probably benign Het
Dxo A G 17: 35,057,367 (GRCm39) E253G probably damaging Het
Enpp1 T C 10: 24,523,929 (GRCm39) Y747C probably damaging Het
Gga2 T C 7: 121,601,389 (GRCm39) E238G possibly damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Grik4 A T 9: 42,477,632 (GRCm39) M518K probably damaging Het
Igf2r T A 17: 12,933,000 (GRCm39) S841C probably damaging Het
Itfg1 G T 8: 86,567,258 (GRCm39) T37K probably damaging Het
Kcnn4 T A 7: 24,081,165 (GRCm39) M301K possibly damaging Het
Kel C A 6: 41,679,381 (GRCm39) E127D probably benign Het
Lrp4 A G 2: 91,310,666 (GRCm39) Y569C probably damaging Het
Lrp6 A T 6: 134,518,798 (GRCm39) V89D possibly damaging Het
Mical2 A G 7: 111,927,884 (GRCm39) D674G possibly damaging Het
Mnd1 A G 3: 84,049,071 (GRCm39) S2P possibly damaging Het
Neb T A 2: 52,053,023 (GRCm39) probably null Het
Or51af1 T C 7: 103,141,932 (GRCm39) E51G possibly damaging Het
Or5h23 A G 16: 58,906,384 (GRCm39) I154T probably benign Het
Or8g17 A G 9: 38,930,810 (GRCm39) V9A probably damaging Het
Plekhm3 A T 1: 64,961,093 (GRCm39) Y388N probably benign Het
Prr18 G T 17: 8,560,143 (GRCm39) V100F probably damaging Het
Rnf25 T C 1: 74,634,890 (GRCm39) Y44C probably damaging Het
Smg6 T C 11: 75,047,048 (GRCm39) L1247P probably damaging Het
Spata31e2 G A 1: 26,724,482 (GRCm39) R233C probably benign Het
Tdh T C 14: 63,733,186 (GRCm39) T137A probably benign Het
Tmem200a A G 10: 25,869,393 (GRCm39) V292A probably damaging Het
Ubr3 T C 2: 69,803,758 (GRCm39) V1116A probably benign Het
Ubr4 G A 4: 139,136,200 (GRCm39) E942K possibly damaging Het
Unc5b G A 10: 60,614,580 (GRCm39) A239V probably damaging Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Vmn2r115 A G 17: 23,566,877 (GRCm39) E463G possibly damaging 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
R5943:Pcca UTSW 14 122,896,188 (GRCm39) missense probably damaging 0.99
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
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'- AAGTCACGGGTGATGCTGAC -3'
(R):5'- CTGCAACAGCGTTTTCAATCATTC -3'

Sequencing Primer
(F):5'- GATGCTGACCCCGAACATTTTTG -3'
(R):5'- TTTCTAATACCAACTCCAGCTTTCTG -3'
Posted On 2018-04-02