Incidental Mutation 'R3845:Cyp2u1'
ID 474394
Institutional Source Beutler Lab
Gene Symbol Cyp2u1
Ensembl Gene ENSMUSG00000027983
Gene Name cytochrome P450, family 2, subfamily u, polypeptide 1
Synonyms 8430436A10Rik
MMRRC Submission 040893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R3845 (G1)
Quality Score 190
Status Not validated
Chromosome 3
Chromosomal Location 131084140-131097806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131087135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 482 (F482S)
Ref Sequence ENSEMBL: ENSMUSP00000142519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106337] [ENSMUST00000200236]
AlphaFold Q9CX98
Predicted Effect probably benign
Transcript: ENSMUST00000106337
SMART Domains Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 69 527 4.2e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198606
Predicted Effect possibly damaging
Transcript: ENSMUST00000200236
AA Change: F482S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: F482S

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,669 (GRCm39) N185S probably benign Het
Apool A T X: 111,274,155 (GRCm39) probably benign Het
Atp4a A G 7: 30,416,540 (GRCm39) N439S probably null Het
AU041133 T A 10: 81,987,152 (GRCm39) H268Q probably damaging Het
Ccdc136 C T 6: 29,417,176 (GRCm39) R666W probably benign Het
Ccdc97 T C 7: 25,414,453 (GRCm39) probably benign Het
Celf1 T C 2: 90,839,583 (GRCm39) V336A possibly damaging Het
Chd3 T C 11: 69,237,585 (GRCm39) N1870D possibly damaging Het
Col5a3 C T 9: 20,719,673 (GRCm39) D229N unknown Het
Cpn1 G T 19: 43,962,523 (GRCm39) P142Q possibly damaging Het
Cubn T C 2: 13,287,819 (GRCm39) D3420G probably damaging Het
Foxo1 T A 3: 52,253,701 (GRCm39) D621E probably benign Het
Grid2 A G 6: 64,322,826 (GRCm39) M609V possibly damaging Het
Hsd17b3 A T 13: 64,236,876 (GRCm39) F23I possibly damaging Het
Kcnk10 A G 12: 98,407,003 (GRCm39) I217T probably benign Het
Mis18bp1 G A 12: 65,195,916 (GRCm39) S616L possibly damaging Het
Mtch1 A T 17: 29,561,806 (GRCm39) F133I probably damaging Het
Myh4 T A 11: 67,149,931 (GRCm39) V1830E possibly damaging Het
Nav3 T C 10: 109,689,237 (GRCm39) M347V possibly damaging Het
Nbea A G 3: 55,993,713 (GRCm39) probably benign Het
Nhej1 A T 1: 75,008,042 (GRCm39) D76E probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5m12 A C 2: 85,735,081 (GRCm39) C106G probably damaging Het
Pias3 T C 3: 96,609,526 (GRCm39) V307A probably benign Het
Pltp T A 2: 164,696,208 (GRCm39) M135L probably benign Het
Plxna2 A G 1: 194,476,098 (GRCm39) Y1106C probably damaging Het
Pramel26 T C 4: 143,538,545 (GRCm39) E142G probably damaging Het
Ptgir G A 7: 16,641,311 (GRCm39) R201H probably damaging Het
Ptk7 A T 17: 46,897,344 (GRCm39) D329E probably benign Het
Pygl T C 12: 70,245,217 (GRCm39) D411G probably benign Het
Rev1 A T 1: 38,138,069 (GRCm39) M72K probably damaging Het
Sfrp1 T C 8: 23,902,264 (GRCm39) L155P probably damaging Het
Slc5a4a A G 10: 76,024,983 (GRCm39) E620G probably damaging Het
Smarca2 A G 19: 26,698,273 (GRCm39) I1314V probably benign Het
Tas2r109 G A 6: 132,957,766 (GRCm39) L55F probably damaging Het
Tek T A 4: 94,693,109 (GRCm39) C274S probably damaging Het
Tektl1 T C 10: 78,584,532 (GRCm39) N330S probably benign Het
Tent4b A T 8: 88,977,292 (GRCm39) I322F possibly damaging Het
Tmem38b T A 4: 53,859,905 (GRCm39) D228E probably benign Het
Topbp1 T C 9: 103,187,122 (GRCm39) V109A possibly damaging Het
Trbv5 A G 6: 41,039,682 (GRCm39) I96V probably benign Het
Trim16 T G 11: 62,727,498 (GRCm39) probably benign Het
Upf3a A T 8: 13,848,238 (GRCm39) T345S probably benign Het
Usp15 A G 10: 122,955,040 (GRCm39) S913P probably damaging Het
Vmn2r124 T A 17: 18,293,953 (GRCm39) V680D possibly damaging Het
Vmn2r91 G A 17: 18,327,860 (GRCm39) V485I probably benign Het
Zdbf2 A T 1: 63,347,483 (GRCm39) H1954L possibly damaging Het
Other mutations in Cyp2u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Cyp2u1 APN 3 131,091,600 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers
Posted On 2017-04-14