Incidental Mutation 'IGL02365:Cyp2u1'
ID 290686
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 # IGL02365
Quality Score
Status
Chromosome 3
Chromosomal Location 131084140-131097806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131091878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 214 (V214A)
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: V214A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: V214A

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: V214A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: V214A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 A T 11: 30,599,318 (GRCm39) V21E probably damaging Het
Adgrl3 A G 5: 81,660,428 (GRCm39) D331G probably damaging Het
Arfgef1 A T 1: 10,270,108 (GRCm39) I347N probably benign Het
Bfsp1 T G 2: 143,668,656 (GRCm39) E647A probably damaging Het
Bhmt A T 13: 93,754,146 (GRCm39) N354K probably benign Het
Brinp3 A T 1: 146,776,860 (GRCm39) T436S probably benign Het
Capza1b T C X: 168,559,526 (GRCm39) N272D probably benign Het
Cog7 C A 7: 121,576,959 (GRCm39) M66I possibly damaging Het
Csf2rb2 A T 15: 78,171,260 (GRCm39) M333K possibly damaging Het
Dcaf5 A T 12: 80,445,547 (GRCm39) H177Q probably benign Het
Dchs1 T C 7: 105,404,395 (GRCm39) T2716A probably benign Het
Dsc1 T C 18: 20,241,873 (GRCm39) Q156R probably damaging Het
Dspp G T 5: 104,323,927 (GRCm39) G357W probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fto T G 8: 92,195,003 (GRCm39) S265R probably damaging Het
Gphb5 A G 12: 75,462,591 (GRCm39) probably benign Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Klk13 A C 7: 43,373,290 (GRCm39) K107T possibly damaging Het
Kpna7 T A 5: 144,922,543 (GRCm39) D507V possibly damaging Het
Lamb1 A T 12: 31,368,344 (GRCm39) E1158V probably damaging Het
Lonp2 A T 8: 87,442,993 (GRCm39) D818V possibly damaging Het
Med15 A G 16: 17,489,470 (GRCm39) probably benign Het
Or5p51 T A 7: 107,444,119 (GRCm39) N274Y probably damaging Het
Or6c69b T C 10: 129,627,404 (GRCm39) D18G possibly damaging Het
Or8g52 A T 9: 39,630,970 (GRCm39) Y149F possibly damaging Het
Or8g52 G A 9: 39,631,396 (GRCm39) S291N probably damaging Het
Plpbp A G 8: 27,535,952 (GRCm39) I82V probably benign Het
Ptprcap A G 19: 4,206,267 (GRCm39) I117V probably benign Het
Rhox12 T A X: 37,196,758 (GRCm39) D88V possibly damaging Het
Rnpc3 A G 3: 113,402,048 (GRCm39) S500P probably damaging Het
Sdhd A T 9: 50,510,125 (GRCm39) Y84N possibly damaging Het
Sema6d G A 2: 124,498,788 (GRCm39) V233I probably benign Het
Vegfb A T 19: 6,962,855 (GRCm39) I140N probably benign Het
Vldlr A G 19: 27,223,025 (GRCm39) Y732C probably damaging Het
Vmn2r17 T A 5: 109,601,175 (GRCm39) F824L probably damaging Het
Xdh A T 17: 74,250,885 (GRCm39) N22K probably benign Het
Zc3h11a A C 1: 133,565,151 (GRCm39) N249K probably benign Het
Zwilch T A 9: 64,068,206 (GRCm39) D203V probably damaging Het
Other mutations in Cyp2u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Cyp2u1 APN 3 131,091,600 (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 2015-04-16