Incidental Mutation 'IGL01796:Cbr1'
ID 155354
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 # IGL01796
Quality Score
Status
Chromosome 16
Chromosomal Location 93404752-93407226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 93405119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 89 (N89T)
Ref Sequence ENSEMBL: ENSMUSP00000155872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023669] [ENSMUST00000039659] [ENSMUST00000231762]
AlphaFold P48758
Predicted Effect probably benign
Transcript: ENSMUST00000023669
SMART Domains Protein: ENSMUSP00000023669
Gene: ENSMUSG00000022948

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:SET 58 272 3.2e-11 PFAM
Pfam:Rubis-subs-bind 306 424 5.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000039659
AA Change: N89T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049394
Gene: ENSMUSG00000051483
AA Change: N89T

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: ENSMUST00000123756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231450
Predicted Effect probably damaging
Transcript: ENSMUST00000231762
AA Change: N89T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably damaging Het
Other mutations in Cbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02108:Cbr1 APN 16 93,407,087 (GRCm39) missense probably benign 0.03
IGL02660:Cbr1 APN 16 93,406,712 (GRCm39) missense probably benign 0.06
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 2014-02-04