Incidental Mutation 'IGL02173:Pcbd1'
ID 283002
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 # IGL02173
Quality Score
Status
Chromosome 10
Chromosomal Location 60925110-60930103 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 60927983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020298] [ENSMUST00000218005]
AlphaFold P61458
Predicted Effect probably benign
Transcript: ENSMUST00000020298
SMART Domains Protein: ENSMUSP00000020298
Gene: ENSMUSG00000020098

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,061,754 (GRCm39) H68L possibly damaging Het
4930533K18Rik A G 10: 70,708,060 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,443,401 (GRCm39) T182A unknown Het
Abca2 T A 2: 25,331,909 (GRCm39) D1340E probably benign Het
Abcc12 G A 8: 87,293,071 (GRCm39) A39V probably damaging Het
Acap2 T C 16: 30,926,965 (GRCm39) R510G possibly damaging Het
Ace G T 11: 105,879,817 (GRCm39) R719L probably benign Het
Adarb1 A C 10: 77,157,659 (GRCm39) F263V probably damaging Het
Ahcyl T C 16: 45,974,441 (GRCm39) N312S probably benign Het
Ambra1 T C 2: 91,748,013 (GRCm39) S1130P probably benign Het
Aqp7 A T 4: 41,034,379 (GRCm39) L260* probably null Het
Cntn5 G T 9: 9,748,401 (GRCm39) S493R probably damaging Het
Crhr2 A G 6: 55,080,165 (GRCm39) F138S probably damaging Het
D2hgdh T A 1: 93,757,611 (GRCm39) D175E probably benign Het
Dtx4 G T 19: 12,450,621 (GRCm39) Y530* probably null Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Etv6 A G 6: 134,225,690 (GRCm39) D218G possibly damaging Het
Exoc5 A G 14: 49,272,258 (GRCm39) probably benign Het
Fyb1 C T 15: 6,610,176 (GRCm39) P250S probably benign Het
Gaa A G 11: 119,165,739 (GRCm39) Y84C probably damaging Het
Galns A T 8: 123,325,365 (GRCm39) S262R probably damaging Het
Gfus A G 15: 75,798,034 (GRCm39) S233P probably damaging Het
Kctd16 T C 18: 40,663,906 (GRCm39) I345T probably benign Het
Lats2 A G 14: 57,934,717 (GRCm39) V671A probably damaging Het
Maml3 C A 3: 51,598,208 (GRCm39) L179F probably damaging Het
Myo1f T C 17: 33,826,318 (GRCm39) L1089P probably damaging Het
Nadsyn1 A T 7: 143,357,743 (GRCm39) probably benign Het
Or1e34 A G 11: 73,778,949 (GRCm39) M83T possibly damaging Het
Or51k1 G A 7: 103,661,037 (GRCm39) P291S probably damaging Het
Or7d9 T C 9: 20,197,691 (GRCm39) V240A probably benign Het
Or9i1 A G 19: 13,839,378 (GRCm39) T74A probably benign Het
Otog T C 7: 45,926,165 (GRCm39) probably benign Het
Pced1a A G 2: 130,264,248 (GRCm39) V164A possibly damaging Het
Pgd A G 4: 149,241,210 (GRCm39) I233T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sec24d A T 3: 123,147,330 (GRCm39) H733L probably damaging Het
Slc1a2 T A 2: 102,574,206 (GRCm39) N205K probably benign Het
Sstr2 G T 11: 113,515,842 (GRCm39) V254L probably damaging Het
Tm9sf2 G T 14: 122,380,835 (GRCm39) V308F probably benign Het
Tor3a T C 1: 156,501,776 (GRCm39) K34E probably benign Het
Ubr4 T A 4: 139,164,381 (GRCm39) probably null Het
Vmn1r56 A G 7: 5,199,117 (GRCm39) S167P probably damaging Het
Zswim3 T A 2: 164,662,759 (GRCm39) I413N 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
IGL00819:Pcbd1 APN 10 60,927,919 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16