Incidental Mutation 'R1203:Pcbd2'
ID 100290
Institutional Source Beutler Lab
Gene Symbol Pcbd2
Ensembl Gene ENSMUSG00000021496
Gene Name pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
Synonyms Dcoh2, Dcohm, 2700061N24Rik
MMRRC Submission 039273-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R1203 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55875181-55924643 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 55880881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021958] [ENSMUST00000124968]
AlphaFold Q9CZL5
Predicted Effect probably null
Transcript: ENSMUST00000021958
SMART Domains Protein: ENSMUSP00000021958
Gene: ENSMUSG00000021496

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

DomainStartEndE-ValueType
Pfam:Pterin_4a 3 101 5.7e-35 PFAM
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.6%
  • 20x: 89.3%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Aadacl3 T C 4: 144,190,140 (GRCm39) T54A probably benign Het
Adcy8 A G 15: 64,618,780 (GRCm39) I791T probably damaging Het
Aldh1b1 A G 4: 45,803,359 (GRCm39) D299G probably damaging Het
Aoah A G 13: 21,000,764 (GRCm39) E66G probably damaging Het
Atl2 G T 17: 80,160,334 (GRCm39) H418N probably damaging Het
Atp6v1d A G 12: 78,908,214 (GRCm39) I7T possibly damaging Het
Calhm3 C T 19: 47,143,839 (GRCm39) V155M probably damaging Het
Carmil1 A T 13: 24,282,989 (GRCm39) I105K probably damaging Het
Csrp3 C A 7: 48,489,278 (GRCm39) M1I probably null Het
Dnah10 T A 5: 124,837,078 (GRCm39) probably null Het
Dnah11 T C 12: 117,897,547 (GRCm39) N3561S possibly damaging Het
Dzip3 A T 16: 48,772,180 (GRCm39) D496E probably damaging Het
Eif2ak1 T C 5: 143,820,797 (GRCm39) V246A probably benign Het
Fam171b T A 2: 83,643,313 (GRCm39) V74E probably benign Het
Gm14137 C T 2: 119,005,605 (GRCm39) R55W probably damaging Het
Gm4950 T C 18: 51,998,830 (GRCm39) I42V probably benign Het
Gpr35 T C 1: 92,910,870 (GRCm39) V194A probably damaging Het
Kdm5d C T Y: 941,011 (GRCm39) S1132F probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Ncln A G 10: 81,332,027 (GRCm39) V24A possibly damaging Het
Nphp4 A G 4: 152,573,289 (GRCm39) K76E probably damaging Het
Nsf CAATAATAATAATAATA CAATAATAATAATAATAATA 11: 103,816,952 (GRCm39) probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or52h2 A T 7: 103,839,060 (GRCm39) L118* probably null Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Rapgef6 T A 11: 54,582,525 (GRCm39) V1479D probably benign Het
Rnf43 T C 11: 87,618,301 (GRCm39) probably benign Het
Robo3 A G 9: 37,329,978 (GRCm39) W1113R probably damaging Het
Sall1 A T 8: 89,758,562 (GRCm39) V514E probably damaging Het
Sgpp1 A G 12: 75,763,056 (GRCm39) I375T probably benign Het
Strc T C 2: 121,202,604 (GRCm39) N1187S possibly damaging Het
Tbc1d17 G A 7: 44,492,895 (GRCm39) R363W probably damaging Het
Tbcd A G 11: 121,366,451 (GRCm39) Q242R probably benign Het
Tbcel A C 9: 42,362,947 (GRCm39) V50G probably damaging Het
Tead3 C T 17: 28,560,536 (GRCm39) A23T probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tlcd5 A G 9: 43,022,775 (GRCm39) V193A probably benign Het
Tmem241 G T 18: 12,217,035 (GRCm39) probably benign Het
Tmtc3 G T 10: 100,312,606 (GRCm39) T79K probably damaging Het
Utrn A G 10: 12,362,281 (GRCm39) V241A probably damaging Het
Vps8 A T 16: 21,330,307 (GRCm39) I729F probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Pcbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Pcbd2 APN 13 55,924,413 (GRCm39) splice site probably benign
IGL02411:Pcbd2 APN 13 55,880,764 (GRCm39) missense probably benign
R2105:Pcbd2 UTSW 13 55,880,846 (GRCm39) missense probably damaging 1.00
R9594:Pcbd2 UTSW 13 55,880,849 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TAAACGCCTACCCTTGCAGACAGGA -3'
(R):5'- AGCAAGCAGGTTATGTTTCTCAACTGG -3'

Sequencing Primer
(F):5'- TACCCTTGCAGACAGGAAATATG -3'
(R):5'- tctgtctgtctgtccccc -3'
Posted On 2014-01-15