Incidental Mutation 'IGL03290:Pcca'
ID415847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcca
Ensembl Gene ENSMUSG00000041650
Gene Namepropionyl-Coenzyme A carboxylase, alpha polypeptide
SynonymsC79630
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03290
Quality Score
Status
Chromosome14
Chromosomal Location122534324-122891100 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 122585106 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 112 (R112H)
Ref Sequence ENSEMBL: ENSMUSP00000120027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000135578] [ENSMUST00000154206]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038374
AA Change: R151H

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: R151H

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 possibly damaging
Transcript: ENSMUST00000154206
AA Change: R112H

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120027
Gene: ENSMUSG00000041650
AA Change: R112H

DomainStartEndE-ValueType
Pfam:CPSase_L_chain 43 128 5.7e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000177312
AA Change: R32H
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,703,423 probably benign Het
Asb18 A G 1: 90,014,574 S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 F398S probably damaging Het
BC034090 T G 1: 155,226,110 D136A probably damaging Het
Ces5a A C 8: 93,519,632 F310V probably damaging Het
Chsy1 T C 7: 66,171,031 V338A probably benign Het
Dbh A G 2: 27,174,932 E385G probably damaging Het
Dnah14 T A 1: 181,763,978 probably benign Het
F2rl1 A G 13: 95,513,589 S262P possibly damaging Het
Fat2 T C 11: 55,256,219 N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 H354Q probably benign Het
Fgf6 T A 6: 127,024,132 V201D probably damaging Het
Gm16181 A T 17: 35,223,957 probably benign Het
Gm6811 T C 17: 21,094,049 noncoding transcript Het
Gna11 A G 10: 81,530,937 F313S probably damaging Het
Gprc6a C T 10: 51,615,872 A523T probably damaging Het
Il22 T C 10: 118,205,880 probably null Het
Insr T C 8: 3,258,574 Y154C probably damaging Het
Irak4 T A 15: 94,551,899 D86E probably benign Het
Itk C A 11: 46,334,937 W529L probably damaging Het
Klhl6 C A 16: 19,947,137 A572S probably benign Het
Ldhc C T 7: 46,869,688 R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 probably benign Het
Mdh2 A G 5: 135,789,713 E274G probably damaging Het
N4bp1 G T 8: 86,848,533 D711E probably benign Het
Ngly1 T A 14: 16,281,866 I248K probably damaging Het
Olfr324 A G 11: 58,598,323 N309S probably damaging Het
Olfr872 T C 9: 20,260,260 I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 E1421G probably damaging Het
Pgrmc2 T C 3: 41,068,626 probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Pogz A T 3: 94,875,091 probably benign Het
Ppp1r3a A G 6: 14,754,772 Y159H probably damaging Het
Rax T C 18: 65,938,160 K135E probably damaging Het
Rbm7 T A 9: 48,489,967 M154L probably benign Het
Rp1 A G 1: 4,350,041 S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 S30P probably benign Het
Samd13 T C 3: 146,646,315 T75A probably benign Het
Sfxn4 A G 19: 60,860,070 W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 R43W probably damaging Het
Smc5 A G 19: 23,273,658 V54A probably benign Het
Snap47 A G 11: 59,428,598 I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 T731I probably damaging Het
Zfp287 A G 11: 62,715,236 F282L probably damaging Het
Other mutations in Pcca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pcca APN 14 122582629 missense probably benign 0.22
IGL00906:Pcca APN 14 122690133 missense probably benign 0.34
IGL00975:Pcca APN 14 122876900 missense probably damaging 1.00
IGL01329:Pcca APN 14 122690133 missense possibly damaging 0.50
IGL01353:Pcca APN 14 122582617 missense probably damaging 0.98
IGL01672:Pcca APN 14 122690145 missense probably benign 0.02
IGL02621:Pcca APN 14 122684979 missense probably damaging 0.99
IGL02695:Pcca APN 14 122582738 splice site probably benign
IGL02749:Pcca APN 14 122534388 missense probably benign 0.00
IGL02971:Pcca APN 14 122889533 missense probably damaging 0.96
IGL03052:Pcca UTSW 14 122887101 missense probably benign
PIT4812001:Pcca UTSW 14 122790382 missense probably benign 0.00
R0549:Pcca UTSW 14 122638377 splice site probably benign
R0866:Pcca UTSW 14 122889545 missense possibly damaging 0.95
R1498:Pcca UTSW 14 122616818 missense probably damaging 1.00
R1749:Pcca UTSW 14 122701130 missense probably damaging 0.97
R2002:Pcca UTSW 14 122887065 missense probably benign 0.00
R2020:Pcca UTSW 14 122813222 missense possibly damaging 0.64
R2086:Pcca UTSW 14 122686115 missense probably damaging 0.99
R3780:Pcca UTSW 14 122684885 missense probably damaging 1.00
R5023:Pcca UTSW 14 122790398 missense probably damaging 1.00
R5643:Pcca UTSW 14 122887069 missense probably damaging 1.00
R5644:Pcca UTSW 14 122887069 missense probably damaging 1.00
R5943:Pcca UTSW 14 122658776 missense probably damaging 0.99
R5966:Pcca UTSW 14 122668586 missense probably damaging 0.96
R6295:Pcca UTSW 14 122658775 missense probably benign 0.10
R6317:Pcca UTSW 14 122582623 missense probably damaging 1.00
R6319:Pcca UTSW 14 122582623 missense probably damaging 1.00
R6361:Pcca UTSW 14 122638382 missense probably benign 0.07
R6989:Pcca UTSW 14 122650288 missense probably damaging 1.00
R7243:Pcca UTSW 14 122876774 missense probably benign
R7841:Pcca UTSW 14 122562972 missense probably benign 0.03
R7924:Pcca UTSW 14 122562972 missense probably benign 0.03
R8026:Pcca UTSW 14 122638382 missense probably benign 0.07
RF024:Pcca UTSW 14 122684898 missense probably damaging 1.00
X0026:Pcca UTSW 14 122616791 missense possibly damaging 0.51
Posted On2016-08-02