Incidental Mutation 'IGL02971:Pcca'
ID 365817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Name propionyl-Coenzyme A carboxylase, alpha polypeptide
Synonyms C79630
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02971
Quality Score
Status
Chromosome 14
Chromosomal Location 122771736-123128512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123126945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 718 (D718G)
Ref Sequence ENSEMBL: ENSMUSP00000038763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038075] [ENSMUST00000038374] [ENSMUST00000110679] [ENSMUST00000152383] [ENSMUST00000160401] [ENSMUST00000161322] [ENSMUST00000162164]
AlphaFold Q91ZA3
Predicted Effect probably benign
Transcript: ENSMUST00000038075
SMART Domains Protein: ENSMUSP00000037278
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:GGACT 4 135 3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000038374
AA Change: D718G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: D718G

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: ENSMUST00000110679
SMART Domains Protein: ENSMUSP00000135487
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:AIG2 4 71 3.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140517
Predicted Effect probably benign
Transcript: ENSMUST00000152383
SMART Domains Protein: ENSMUSP00000135266
Gene: ENSMUSG00000041650

DomainStartEndE-ValueType
Pfam:SLT_beta 32 106 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160401
SMART Domains Protein: ENSMUSP00000124954
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:AIG2 4 118 7.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161322
Predicted Effect probably benign
Transcript: ENSMUST00000177312
Predicted Effect probably benign
Transcript: ENSMUST00000162164
SMART Domains Protein: ENSMUSP00000123721
Gene: ENSMUSG00000041625

DomainStartEndE-ValueType
Pfam:AIG2 4 103 9.8e-25 PFAM
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K 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
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
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
Posted On 2015-12-18