Incidental Mutation 'R9128:Dcxr'
ID 693420
Institutional Source Beutler Lab
Gene Symbol Dcxr
Ensembl Gene ENSMUSG00000039450
Gene Name dicarbonyl L-xylulose reductase
Synonyms 1810027P18Rik, 0610038K04Rik
MMRRC Submission 068927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 120616225-120618107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120617372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 57 (V57E)
Ref Sequence ENSEMBL: ENSMUSP00000026144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026144] [ENSMUST00000026148] [ENSMUST00000106148] [ENSMUST00000142229]
AlphaFold Q91X52
Predicted Effect probably benign
Transcript: ENSMUST00000018156
SMART Domains Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 179 8.8e-139 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: V57E

DomainStartEndE-ValueType
Pfam:adh_short 8 195 8.9e-51 PFAM
Pfam:KR 9 175 7.1e-9 PFAM
Pfam:Epimerase 10 227 2.3e-7 PFAM
Pfam:adh_short_C2 14 242 6.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026148
SMART Domains Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150

DomainStartEndE-ValueType
Pfam:KR 9 178 8.5e-8 PFAM
Pfam:adh_short 9 195 4.6e-55 PFAM
Pfam:adh_short_C2 14 242 9.4e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106148
AA Change: V57E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: V57E

DomainStartEndE-ValueType
Pfam:adh_short 8 151 2.1e-22 PFAM
Pfam:KR 9 151 4.7e-7 PFAM
Pfam:NAD_binding_10 11 182 3.9e-9 PFAM
Pfam:adh_short_C2 14 150 2.2e-8 PFAM
Pfam:adh_short_C2 157 234 4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142229
SMART Domains Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 172 3.19e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154565
SMART Domains Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150

DomainStartEndE-ValueType
Pfam:adh_short 1 45 6.2e-10 PFAM
Pfam:adh_short_C2 33 154 9.7e-18 PFAM
Pfam:adh_short 41 123 2.2e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,352 (GRCm39) V542A possibly damaging Het
Abhd8 G T 8: 71,914,389 (GRCm39) R80S probably benign Het
Actc1 T C 2: 113,880,946 (GRCm39) Y93C possibly damaging Het
Actn4 G T 7: 28,593,929 (GRCm39) D859E possibly damaging Het
Adcy2 C T 13: 68,773,927 (GRCm39) G1039R probably damaging Het
Als2 A G 1: 59,219,709 (GRCm39) M1202T probably benign Het
Aste1 T A 9: 105,273,908 (GRCm39) Y49* probably null Het
Atp8b4 T C 2: 126,234,750 (GRCm39) D422G probably benign Het
Bag6 T A 17: 35,363,688 (GRCm39) S791T probably damaging Het
Bivm T A 1: 44,167,949 (GRCm39) W222R probably null Het
Bod1l A C 5: 41,946,266 (GRCm39) V3003G probably benign Het
Bsn T C 9: 107,993,349 (GRCm39) D801G probably benign Het
Ccdc14 G A 16: 34,527,159 (GRCm39) D403N probably damaging Het
Cenpj T A 14: 56,780,319 (GRCm39) E964V probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Clca3a1 G A 3: 144,463,795 (GRCm39) R161W probably damaging Het
Dnah17 T G 11: 117,937,004 (GRCm39) N3400T possibly damaging Het
Dnaja3 C T 16: 4,520,164 (GRCm39) T444I possibly damaging Het
Dop1a T C 9: 86,395,208 (GRCm39) S772P probably benign Het
Ednrb T C 14: 104,080,528 (GRCm39) N129D probably damaging Het
Ep300 T A 15: 81,533,946 (GRCm39) M2001K unknown Het
Fam3b A G 16: 97,302,200 (GRCm39) I8T probably benign Het
Fam98c A T 7: 28,854,115 (GRCm39) S85T Het
Fat1 G A 8: 45,462,878 (GRCm39) V1232I probably benign Het
Fzd3 T A 14: 65,449,626 (GRCm39) Y484F probably damaging Het
H3f3a T C 1: 180,630,660 (GRCm39) I131M possibly damaging Het
Ifi206 A T 1: 173,299,022 (GRCm39) D861E unknown Het
Ihh T C 1: 74,985,498 (GRCm39) Y329C probably damaging Het
Jak2 A G 19: 29,278,462 (GRCm39) N909D probably damaging Het
Krtap12-1 C A 10: 77,556,623 (GRCm39) C55* probably null Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mreg T C 1: 72,231,216 (GRCm39) T81A probably benign Het
Muc16 T C 9: 18,558,878 (GRCm39) T2472A unknown Het
Nanos3 A T 8: 84,903,080 (GRCm39) D27E probably benign Het
Nox3 T G 17: 3,720,136 (GRCm39) S350R probably damaging Het
Or4m1 A G 14: 50,558,214 (GRCm39) V26A probably benign Het
Or8k18 T A 2: 86,086,022 (GRCm39) N5I probably damaging Het
Pafah2 C T 4: 134,147,281 (GRCm39) T310M probably damaging Het
Pals1 A G 12: 78,843,832 (GRCm39) E12G probably benign Het
Pianp A G 6: 124,977,658 (GRCm39) I185V probably benign Het
Pja2 T C 17: 64,616,470 (GRCm39) T142A probably benign Het
Poln G A 5: 34,171,658 (GRCm39) P747L probably damaging Het
Pramel25 T A 4: 143,520,178 (GRCm39) S141T probably benign Het
Rdx T A 9: 51,976,179 (GRCm39) L39* probably null Het
Rnf146 A G 10: 29,223,539 (GRCm39) W116R probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sec24d A G 3: 123,087,810 (GRCm39) T224A probably benign Het
Serpinb9 T A 13: 33,190,686 (GRCm39) I54K possibly damaging Het
Slc25a13 A T 6: 6,109,987 (GRCm39) L324Q probably null Het
Slc9c1 T C 16: 45,400,490 (GRCm39) L700P probably benign Het
Snta1 T C 2: 154,222,856 (GRCm39) K289R probably benign Het
Sppl2a A G 2: 126,765,393 (GRCm39) F243S probably damaging Het
Syne1 T C 10: 5,058,556 (GRCm39) E7319G probably benign Het
Taf5l G A 8: 124,730,014 (GRCm39) P225L probably benign Het
Tet2 A T 3: 133,175,374 (GRCm39) N1324K possibly damaging Het
Usp5 A T 6: 124,800,414 (GRCm39) probably null Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vps16 A G 2: 130,266,319 (GRCm39) D2G possibly damaging Het
Vwf T C 6: 125,619,693 (GRCm39) L1457P Het
Xpo1 A G 11: 23,235,058 (GRCm39) T576A probably damaging Het
Zdhhc6 A T 19: 55,301,680 (GRCm39) Y100* probably null Het
Zfp534 T A 4: 147,760,082 (GRCm39) R196* probably null Het
Zfp710 C T 7: 79,731,122 (GRCm39) R100W probably damaging Het
Zfp750 T C 11: 121,404,674 (GRCm39) K67R probably benign Het
Zmynd10 T C 9: 107,426,326 (GRCm39) S158P Het
Zmynd8 A T 2: 165,700,058 (GRCm39) M1K probably null Het
Other mutations in Dcxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Dcxr APN 11 120,616,993 (GRCm39) missense possibly damaging 0.75
IGL01516:Dcxr APN 11 120,616,584 (GRCm39) splice site probably null
IGL02151:Dcxr APN 11 120,616,809 (GRCm39) missense probably benign 0.00
IGL03264:Dcxr APN 11 120,617,298 (GRCm39) missense probably damaging 1.00
R0890:Dcxr UTSW 11 120,617,297 (GRCm39) missense probably damaging 1.00
R1325:Dcxr UTSW 11 120,617,381 (GRCm39) splice site probably null
R1808:Dcxr UTSW 11 120,616,438 (GRCm39) splice site probably null
R2099:Dcxr UTSW 11 120,616,403 (GRCm39) missense probably damaging 1.00
R2102:Dcxr UTSW 11 120,617,133 (GRCm39) missense probably benign 0.08
R4602:Dcxr UTSW 11 120,617,130 (GRCm39) missense possibly damaging 0.49
R4772:Dcxr UTSW 11 120,616,923 (GRCm39) missense probably benign 0.00
R5028:Dcxr UTSW 11 120,617,273 (GRCm39) missense probably damaging 0.97
R5219:Dcxr UTSW 11 120,616,314 (GRCm39) unclassified probably benign
R5336:Dcxr UTSW 11 120,618,002 (GRCm39) critical splice donor site probably null
R5518:Dcxr UTSW 11 120,617,025 (GRCm39) unclassified probably benign
R6613:Dcxr UTSW 11 120,617,832 (GRCm39) missense probably benign 0.00
R6833:Dcxr UTSW 11 120,616,917 (GRCm39) missense probably damaging 1.00
R7042:Dcxr UTSW 11 120,617,841 (GRCm39) missense possibly damaging 0.66
R7531:Dcxr UTSW 11 120,617,832 (GRCm39) missense probably benign 0.00
R7633:Dcxr UTSW 11 120,617,279 (GRCm39) missense probably benign 0.00
R7710:Dcxr UTSW 11 120,617,908 (GRCm39) missense probably benign 0.08
R9800:Dcxr UTSW 11 120,618,084 (GRCm39) unclassified probably benign
Z1176:Dcxr UTSW 11 120,618,034 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AATGAATGGACAGCCTGGTCAG -3'
(R):5'- GTGTCTCTCGCAATTTGCTG -3'

Sequencing Primer
(F):5'- AGGGCTGAGGCTGCAGTG -3'
(R):5'- GCTGCAGCGGGAACTCTTG -3'
Posted On 2022-01-20