Incidental Mutation 'IGL00471:Pcbd2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcbd2
Ensembl Gene ENSMUSG00000021496
Gene Namepterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
Synonyms2700061N24Rik, Dcohm, Dcoh2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #IGL00471
Quality Score
Chromosomal Location55727368-55776830 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 55776600 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021958] [ENSMUST00000124968]
Predicted Effect probably benign
Transcript: ENSMUST00000021958
SMART Domains Protein: ENSMUSP00000021958
Gene: ENSMUSG00000021496

low complexity region 2 14 N/A INTRINSIC
Pfam:Pterin_4a 39 132 1.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124968
SMART Domains Protein: ENSMUSP00000115392
Gene: ENSMUSG00000021496

Pfam:Pterin_4a 3 101 5.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154384
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,509,542 V2793A probably damaging Het
Agbl2 A G 2: 90,801,045 Y249C probably damaging Het
Anks1 T C 17: 28,058,416 S1082P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
C4b T G 17: 34,734,429 T1027P probably damaging Het
Clec4d A T 6: 123,274,773 I205F probably damaging Het
Cpeb2 A T 5: 43,285,831 Y955F probably damaging Het
Cst13 T A 2: 148,830,304 M133K probably damaging Het
Dnah10 T C 5: 124,794,341 L2418P probably damaging Het
Gli3 T C 13: 15,723,769 probably null Het
Hgfac C A 5: 35,046,526 H463N probably damaging Het
Hlx A T 1: 184,731,595 F183I probably damaging Het
Ighv1-5 T G 12: 114,513,473 I70L probably benign Het
Ltbp2 T C 12: 84,791,064 T1181A probably damaging Het
Morn1 A C 4: 155,092,328 K140Q possibly damaging Het
Nek1 A T 8: 61,043,284 M358L probably benign Het
Pramel7 A T 2: 87,491,085 L202Q probably damaging Het
Shq1 A G 6: 100,664,483 S146P probably benign Het
Slc25a21 T C 12: 56,718,137 probably null Het
Slc26a7 A T 4: 14,548,403 probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Stam2 T C 2: 52,720,935 D25G probably damaging Het
Tbx18 A T 9: 87,705,623 D480E possibly damaging Het
Tmem26 A T 10: 68,778,681 I309F possibly damaging Het
Ube2c A G 2: 164,771,293 T44A probably benign Het
Other mutations in Pcbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02411:Pcbd2 APN 13 55732951 missense probably benign
R1203:Pcbd2 UTSW 13 55733068 critical splice donor site probably null
R2105:Pcbd2 UTSW 13 55733033 missense probably damaging 1.00
Posted On2012-04-20