Incidental Mutation 'IGL02660:Cbr1'
ID 302512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbr1
Ensembl Gene ENSMUSG00000051483
Gene Name carbonyl reductase 1
Synonyms CR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL02660
Quality Score
Status
Chromosome 16
Chromosomal Location 93404752-93407226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93406712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 143 (S143G)
Ref Sequence ENSEMBL: ENSMUSP00000049394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039659] [ENSMUST00000231762]
AlphaFold P48758
Predicted Effect probably benign
Transcript: ENSMUST00000039659
AA Change: S143G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000049394
Gene: ENSMUSG00000051483
AA Change: S143G

DomainStartEndE-ValueType
Pfam:adh_short 6 151 3.3e-29 PFAM
Pfam:KR 7 119 9.4e-9 PFAM
Pfam:adh_short_C2 12 164 2.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231450
Predicted Effect probably benign
Transcript: ENSMUST00000231762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232551
Coding Region Coverage
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 belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik A G 15: 12,810,853 (GRCm39) L341P probably damaging Het
Abcd3 A C 3: 121,577,669 (GRCm39) N206K probably damaging Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Ankmy1 A T 1: 92,823,816 (GRCm39) M150K probably damaging Het
Ap3b2 T C 7: 81,115,446 (GRCm39) D680G probably benign Het
Asxl3 T A 18: 22,657,402 (GRCm39) V1804D probably damaging Het
Bace2 T C 16: 97,216,340 (GRCm39) V311A probably damaging Het
C2cd4c T A 10: 79,449,136 (GRCm39) T4S probably benign Het
C2cd6 T C 1: 59,090,389 (GRCm39) Y456C probably damaging Het
Ccdc191 A G 16: 43,780,462 (GRCm39) T815A probably benign Het
Cenpf T A 1: 189,386,979 (GRCm39) Q1767L probably damaging Het
Col6a5 A C 9: 105,814,085 (GRCm39) N642K unknown Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ephb1 A T 9: 101,918,291 (GRCm39) I406N possibly damaging Het
F13a1 A G 13: 37,127,868 (GRCm39) V370A possibly damaging Het
Gm14403 A T 2: 177,201,257 (GRCm39) H401L probably damaging Het
Gp6 T G 7: 4,387,997 (GRCm39) R157S probably benign Het
Gucy2e G A 11: 69,122,833 (GRCm39) T514I probably benign Het
H2ac1 T C 13: 24,118,608 (GRCm39) V55A probably damaging Het
Mok A G 12: 110,794,499 (GRCm39) I63T probably damaging Het
Otop1 T C 5: 38,445,349 (GRCm39) V169A probably damaging Het
Pdzph1 T A 17: 59,187,642 (GRCm39) T1193S probably damaging Het
Plekha7 A G 7: 115,756,809 (GRCm39) probably benign Het
Plekhm1 A T 11: 103,264,920 (GRCm39) probably benign Het
Prex1 A G 2: 166,435,787 (GRCm39) Y587H probably damaging Het
Scaf1 C A 7: 44,661,542 (GRCm39) probably benign Het
Sema3f A T 9: 107,561,183 (GRCm39) F601Y probably benign Het
Shoc2 T C 19: 53,976,452 (GRCm39) I114T probably benign Het
Skint10 T A 4: 112,622,227 (GRCm39) probably benign Het
Slc18b1 T C 10: 23,686,850 (GRCm39) probably benign Het
Slco5a1 A G 1: 13,059,860 (GRCm39) L287P probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Trim5 C A 7: 103,915,425 (GRCm39) R296L probably damaging Het
Vmn2r60 G T 7: 41,791,720 (GRCm39) E548* probably null Het
Wdr26 A T 1: 181,026,463 (GRCm39) W251R probably damaging Het
Other mutations in Cbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Cbr1 APN 16 93,405,119 (GRCm39) missense probably damaging 1.00
IGL02108:Cbr1 APN 16 93,407,087 (GRCm39) missense probably benign 0.03
PIT4466001:Cbr1 UTSW 16 93,406,692 (GRCm39) missense probably damaging 1.00
PIT4472001:Cbr1 UTSW 16 93,406,692 (GRCm39) missense probably damaging 1.00
R0127:Cbr1 UTSW 16 93,406,875 (GRCm39) missense probably damaging 1.00
R0282:Cbr1 UTSW 16 93,407,022 (GRCm39) missense possibly damaging 0.94
R1557:Cbr1 UTSW 16 93,405,677 (GRCm39) missense probably benign
R4777:Cbr1 UTSW 16 93,406,942 (GRCm39) missense probably benign 0.05
R5547:Cbr1 UTSW 16 93,406,698 (GRCm39) missense probably damaging 1.00
R8303:Cbr1 UTSW 16 93,406,905 (GRCm39) missense probably damaging 1.00
R8371:Cbr1 UTSW 16 93,406,779 (GRCm39) missense probably damaging 1.00
R9081:Cbr1 UTSW 16 93,406,994 (GRCm39) nonsense probably null
R9132:Cbr1 UTSW 16 93,406,794 (GRCm39) missense probably benign 0.00
R9801:Cbr1 UTSW 16 93,406,687 (GRCm39) missense probably damaging 1.00
RF020:Cbr1 UTSW 16 93,407,067 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16