Incidental Mutation 'IGL01613:Cbr3'
ID92270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbr3
Ensembl Gene ENSMUSG00000022947
Gene Namecarbonyl reductase 3
Synonyms1110001J05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #IGL01613
Quality Score
Status
Chromosome16
Chromosomal Location93683215-93690990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93683443 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 40 (E40V)
Ref Sequence ENSEMBL: ENSMUSP00000156328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039620] [ENSMUST00000231302]
Predicted Effect probably benign
Transcript: ENSMUST00000039620
AA Change: E40V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047712
Gene: ENSMUSG00000022947
AA Change: E40V

DomainStartEndE-ValueType
Pfam:adh_short 6 151 4e-29 PFAM
Pfam:KR 7 102 9.1e-10 PFAM
Pfam:adh_short 183 243 4.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231302
AA Change: E40V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Cbr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02861:Cbr3 APN 16 93685119 missense probably damaging 0.96
R1764:Cbr3 UTSW 16 93690482 missense probably damaging 0.98
R5154:Cbr3 UTSW 16 93685139 missense probably benign 0.37
R5553:Cbr3 UTSW 16 93683563 missense possibly damaging 0.88
R5888:Cbr3 UTSW 16 93690726 missense probably damaging 1.00
R6644:Cbr3 UTSW 16 93690511 missense probably damaging 1.00
R6880:Cbr3 UTSW 16 93690538 missense probably benign 0.21
R7050:Cbr3 UTSW 16 93690394 missense possibly damaging 0.92
R7121:Cbr3 UTSW 16 93690550 missense probably damaging 1.00
R8178:Cbr3 UTSW 16 93683505 missense probably benign 0.05
Posted On2013-12-09