Incidental Mutation 'IGL00819:Pcbd1'
ID 12921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcbd1
Ensembl Gene ENSMUSG00000020098
Gene Name pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
Synonyms Pcbd, Dcoh
Accession Numbers
Essential gene? Not available question?
Stock # IGL00819
Quality Score
Status
Chromosome 10
Chromosomal Location 60925110-60930103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 60927919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 27 (E27A)
Ref Sequence ENSEMBL: ENSMUSP00000020298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020298] [ENSMUST00000218005]
AlphaFold P61458
Predicted Effect probably benign
Transcript: ENSMUST00000020298
AA Change: E27A

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020298
Gene: ENSMUSG00000020098
AA Change: E27A

DomainStartEndE-ValueType
Pfam:Pterin_4a 6 99 9.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218005
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,590,350 (GRCm39) probably null Het
Apaf1 G T 10: 90,833,202 (GRCm39) probably null Het
Ash1l T A 3: 88,915,043 (GRCm39) V1891E possibly damaging Het
Atm A G 9: 53,429,831 (GRCm39) S402P probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccdc150 T A 1: 54,302,732 (GRCm39) N117K probably damaging Het
Ccl7 A G 11: 81,937,401 (GRCm39) N45S probably benign Het
Dnah2 A T 11: 69,364,176 (GRCm39) probably null Het
Efcab6 A G 15: 83,902,843 (GRCm39) I169T probably benign Het
Exo1 T C 1: 175,723,803 (GRCm39) V383A probably benign Het
Fbxl2 A G 9: 113,813,047 (GRCm39) probably benign Het
Fryl A T 5: 73,305,451 (GRCm39) V106D possibly damaging Het
Fsip1 C A 2: 118,080,393 (GRCm39) R121L possibly damaging Het
Igsf9 T C 1: 172,324,203 (GRCm39) S789P probably benign Het
Klf7 T C 1: 64,081,476 (GRCm39) D284G possibly damaging Het
Mbtd1 A G 11: 93,822,637 (GRCm39) probably null Het
Mef2c A T 13: 83,773,499 (GRCm39) D125V probably damaging Het
Nectin4 T C 1: 171,212,254 (GRCm39) L284S probably damaging Het
Numa1 G T 7: 101,641,917 (GRCm39) G122W possibly damaging Het
Pclo A G 5: 14,908,860 (GRCm39) N5056S unknown Het
Pelp1 G A 11: 70,285,444 (GRCm39) P808L unknown Het
Ppp1r12a T C 10: 108,076,682 (GRCm39) S304P probably damaging Het
Ppp1r7 T A 1: 93,273,978 (GRCm39) D51E probably benign Het
Rassf6 T C 5: 90,751,930 (GRCm39) K308E probably benign Het
Rel A T 11: 23,693,029 (GRCm39) F335I probably benign Het
Scnn1g A G 7: 121,339,660 (GRCm39) E153G probably benign Het
Slc2a5 T C 4: 150,210,113 (GRCm39) Y33H probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Tpra1 T A 6: 88,886,318 (GRCm39) Y65* probably null Het
Trip12 C T 1: 84,731,993 (GRCm39) G994S probably damaging Het
Trnt1 T A 6: 106,753,183 (GRCm39) Y195* probably null Het
Ttn A G 2: 76,573,394 (GRCm39) I17506T probably damaging Het
Ubr4 C T 4: 139,203,593 (GRCm39) T4761I possibly damaging Het
Vmn1r204 T A 13: 22,741,117 (GRCm39) Y249* probably null Het
Zfp212 C T 6: 47,908,256 (GRCm39) P412S probably damaging Het
Zhx1 A G 15: 57,918,090 (GRCm39) V52A probably benign Het
Zpbp2 A T 11: 98,448,418 (GRCm39) H245L probably damaging Het
Other mutations in Pcbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Pcbd1 APN 10 60,927,949 (GRCm39) missense probably benign
IGL00690:Pcbd1 APN 10 60,928,469 (GRCm39) splice site probably benign
IGL02173:Pcbd1 APN 10 60,927,983 (GRCm39) intron probably benign
Posted On 2012-12-06