Incidental Mutation 'IGL02027:Cyp2u1'
ID 184201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2u1
Ensembl Gene ENSMUSG00000027983
Gene Name cytochrome P450, family 2, subfamily u, polypeptide 1
Synonyms 8430436A10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL02027
Quality Score
Status
Chromosome 3
Chromosomal Location 131084140-131097806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131091600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 307 (Y307H)
Ref Sequence ENSEMBL: ENSMUSP00000142519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106337] [ENSMUST00000200236]
AlphaFold Q9CX98
Predicted Effect probably damaging
Transcript: ENSMUST00000106337
AA Change: Y307H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: Y307H

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 69 527 4.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198606
Predicted Effect probably damaging
Transcript: ENSMUST00000200236
AA Change: Y307H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: Y307H

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 69 473 1.1e-108 PFAM
transmembrane domain 476 498 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 A G 1: 134,358,923 (GRCm39) T312A probably benign Het
Begain T G 12: 109,000,235 (GRCm39) K384Q possibly damaging Het
C2cd6 T C 1: 59,099,763 (GRCm39) I393V probably benign Het
Catsperz A G 19: 6,902,664 (GRCm39) V5A probably benign Het
Cbx1 T A 11: 96,692,315 (GRCm39) F67L probably damaging Het
Ccn2 A G 10: 24,472,307 (GRCm39) S117G probably damaging Het
Ccn3 T C 15: 54,611,330 (GRCm39) V155A probably damaging Het
Cerkl T C 2: 79,171,630 (GRCm39) probably benign Het
Cubn G T 2: 13,292,405 (GRCm39) D3259E probably damaging Het
Dcaf6 A C 1: 165,251,910 (GRCm39) D71E probably damaging Het
Dclk3 A T 9: 111,296,911 (GRCm39) K152* probably null Het
Fcgbp G A 7: 27,774,629 (GRCm39) D68N probably damaging Het
Gm6576 A G 15: 27,025,952 (GRCm39) noncoding transcript Het
Has2 T C 15: 56,531,567 (GRCm39) T383A probably damaging Het
Htr1f T A 16: 64,746,684 (GRCm39) K203* probably null Het
Il36g A T 2: 24,082,797 (GRCm39) I191L probably benign Het
Iqgap3 T C 3: 87,994,649 (GRCm39) I116T possibly damaging Het
Itga1 C T 13: 115,126,591 (GRCm39) probably null Het
Kif5b T C 18: 6,209,089 (GRCm39) D891G possibly damaging Het
Krt74 T C 15: 101,665,229 (GRCm39) noncoding transcript Het
Lama3 A G 18: 12,649,570 (GRCm39) K1776E probably damaging Het
Lats1 T C 10: 7,588,712 (GRCm39) S1110P probably benign Het
Lipo3 T A 19: 33,557,919 (GRCm39) K158* probably null Het
Lrrc9 T A 12: 72,517,108 (GRCm39) probably benign Het
Met A G 6: 17,563,726 (GRCm39) probably benign Het
Mmp13 A G 9: 7,272,955 (GRCm39) Y105C probably damaging Het
Mtus1 T C 8: 41,446,638 (GRCm39) E1151G probably damaging Het
Nptx1 T C 11: 119,435,422 (GRCm39) D298G possibly damaging Het
Odad4 C T 11: 100,460,728 (GRCm39) T495M probably damaging Het
Pdlim1 T C 19: 40,231,910 (GRCm39) N156S probably benign Het
Pdzk1 A G 3: 96,761,989 (GRCm39) probably benign Het
Pex5 A G 6: 124,375,847 (GRCm39) S448P probably benign Het
Polr3e G T 7: 120,530,186 (GRCm39) R124L probably damaging Het
Ppp2r2c C T 5: 37,109,816 (GRCm39) R392C probably damaging Het
Prpf4b T C 13: 35,073,554 (GRCm39) I543T probably benign Het
Prr27 A G 5: 87,991,302 (GRCm39) S305G possibly damaging Het
Repin1 A G 6: 48,573,407 (GRCm39) H56R probably damaging Het
Ryr2 A T 13: 11,611,998 (GRCm39) L408H probably damaging Het
Sbf2 T A 7: 110,060,348 (GRCm39) Q205H probably damaging Het
Sgo2b G A 8: 64,379,863 (GRCm39) P990S probably benign Het
Slc33a1 G T 3: 63,855,562 (GRCm39) P361Q probably damaging Het
Tmem98 T C 11: 80,706,483 (GRCm39) probably benign Het
Vmn1r16 T C 6: 57,300,044 (GRCm39) T193A possibly damaging Het
Vmn1r5 T A 6: 56,962,640 (GRCm39) I105K probably damaging Het
Zfp473 A T 7: 44,387,462 (GRCm39) probably benign Het
Other mutations in Cyp2u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Cyp2u1 APN 3 131,091,878 (GRCm39) missense probably damaging 1.00
R0387:Cyp2u1 UTSW 3 131,089,201 (GRCm39) splice site probably null
R0781:Cyp2u1 UTSW 3 131,087,258 (GRCm39) missense possibly damaging 0.85
R1110:Cyp2u1 UTSW 3 131,087,258 (GRCm39) missense possibly damaging 0.85
R1620:Cyp2u1 UTSW 3 131,096,350 (GRCm39) missense probably damaging 0.98
R3087:Cyp2u1 UTSW 3 131,096,676 (GRCm39) missense probably benign
R3845:Cyp2u1 UTSW 3 131,087,135 (GRCm39) missense possibly damaging 0.66
R4996:Cyp2u1 UTSW 3 131,091,933 (GRCm39) missense probably benign 0.00
R5913:Cyp2u1 UTSW 3 131,096,860 (GRCm39) unclassified probably benign
R6815:Cyp2u1 UTSW 3 131,091,659 (GRCm39) missense probably damaging 1.00
R6903:Cyp2u1 UTSW 3 131,096,424 (GRCm39) missense probably benign 0.03
R6932:Cyp2u1 UTSW 3 131,091,945 (GRCm39) missense possibly damaging 0.94
R7067:Cyp2u1 UTSW 3 131,087,202 (GRCm39) missense probably damaging 1.00
R7167:Cyp2u1 UTSW 3 131,096,773 (GRCm39) missense probably benign 0.23
R7193:Cyp2u1 UTSW 3 131,084,792 (GRCm39) missense probably benign
R7262:Cyp2u1 UTSW 3 131,091,605 (GRCm39) missense probably damaging 1.00
R7371:Cyp2u1 UTSW 3 131,087,144 (GRCm39) missense probably benign 0.01
R7488:Cyp2u1 UTSW 3 131,091,596 (GRCm39) missense probably damaging 1.00
R7605:Cyp2u1 UTSW 3 131,091,602 (GRCm39) missense probably damaging 0.99
R7733:Cyp2u1 UTSW 3 131,096,676 (GRCm39) missense probably benign 0.40
R8110:Cyp2u1 UTSW 3 131,087,303 (GRCm39) missense probably damaging 1.00
R8819:Cyp2u1 UTSW 3 131,092,016 (GRCm39) missense probably damaging 1.00
R8820:Cyp2u1 UTSW 3 131,092,016 (GRCm39) missense probably damaging 1.00
R8887:Cyp2u1 UTSW 3 131,096,503 (GRCm39) missense probably damaging 0.98
R8919:Cyp2u1 UTSW 3 131,089,114 (GRCm39) missense probably damaging 1.00
R9334:Cyp2u1 UTSW 3 131,092,065 (GRCm39) missense probably damaging 0.99
R9377:Cyp2u1 UTSW 3 131,091,449 (GRCm39) missense possibly damaging 0.94
R9778:Cyp2u1 UTSW 3 131,087,133 (GRCm39) missense possibly damaging 0.66
Posted On 2014-05-07