Incidental Mutation 'R0781:Cyp2u1'
ID 76615
Institutional Source Beutler Lab
Gene Symbol Cyp2u1
Ensembl Gene ENSMUSG00000027983
Gene Name cytochrome P450, family 2, subfamily u, polypeptide 1
Synonyms 8430436A10Rik
MMRRC Submission 038961-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R0781 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 131084140-131097806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131087258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 441 (I441T)
Ref Sequence ENSEMBL: ENSMUSP00000142519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106337] [ENSMUST00000200236]
AlphaFold Q9CX98
Predicted Effect possibly damaging
Transcript: ENSMUST00000106337
AA Change: I441T

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: I441T

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: I441T

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: I441T

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 69 473 1.1e-108 PFAM
transmembrane domain 476 498 N/A INTRINSIC
Meta Mutation Damage Score 0.0680 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.2%
Validation Efficiency 97% (67/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,180 (GRCm39) A98S probably benign Het
Acp2 A G 2: 91,038,767 (GRCm39) probably null Het
Akap13 T G 7: 75,261,125 (GRCm39) S447A possibly damaging Het
Alk G A 17: 72,291,740 (GRCm39) probably benign Het
Ankrd55 A G 13: 112,517,767 (GRCm39) probably benign Het
Arhgef39 T C 4: 43,496,834 (GRCm39) T327A probably benign Het
Calhm5 T G 10: 33,972,013 (GRCm39) I141L probably benign Het
Cdan1 G A 2: 120,551,083 (GRCm39) A1103V probably damaging Het
Cdk17 T A 10: 93,074,895 (GRCm39) Y3* probably null Het
Cdon T C 9: 35,367,733 (GRCm39) probably benign Het
Cntn3 T A 6: 102,222,119 (GRCm39) N460I probably benign Het
Cntrl T A 2: 35,050,639 (GRCm39) C985S possibly damaging Het
Col6a2 T C 10: 76,443,574 (GRCm39) E497G probably benign Het
Crybg1 A G 10: 43,875,089 (GRCm39) M673T possibly damaging Het
Csmd1 A C 8: 15,971,174 (GRCm39) I3047S probably benign Het
Disp2 T C 2: 118,620,920 (GRCm39) S551P probably damaging Het
Dstyk A G 1: 132,381,063 (GRCm39) probably benign Het
Frem1 T C 4: 82,868,557 (GRCm39) S1457G probably damaging Het
Gabbr2 C T 4: 46,718,838 (GRCm39) C613Y probably damaging Het
Gdf7 C A 12: 8,351,555 (GRCm39) probably benign Het
Hnrnpul2 A G 19: 8,804,110 (GRCm39) R570G probably damaging Het
Ift70a1 A T 2: 75,810,320 (GRCm39) C588S probably damaging Het
Iqcf4 T C 9: 106,445,860 (GRCm39) I96V probably benign Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Itpr3 C T 17: 27,329,529 (GRCm39) H1518Y probably benign Het
Kdm5d T A Y: 910,539 (GRCm39) L250H probably damaging Het
Kntc1 C T 5: 123,937,965 (GRCm39) probably benign Het
Lmtk3 T A 7: 45,444,427 (GRCm39) probably benign Het
Lpin3 A G 2: 160,735,999 (GRCm39) D93G probably benign Het
Ncoa6 A T 2: 155,253,440 (GRCm39) probably benign Het
Nudt7 G A 8: 114,862,111 (GRCm39) probably benign Het
Nup160 A G 2: 90,563,563 (GRCm39) probably benign Het
Oit3 G A 10: 59,264,016 (GRCm39) R373C probably damaging Het
Olfml2a A T 2: 38,849,765 (GRCm39) I494L probably damaging Het
Opa3 A G 7: 18,962,524 (GRCm39) probably benign Het
Or51e2 A G 7: 102,392,214 (GRCm39) probably benign Het
Or5ac15 A T 16: 58,940,187 (GRCm39) V82D probably damaging Het
Or9r7 A G 10: 129,962,522 (GRCm39) Y135H probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Parp6 G T 9: 59,556,847 (GRCm39) C584F probably damaging Het
Pcgf2 A G 11: 97,582,676 (GRCm39) probably benign Het
Pde3a T C 6: 141,405,042 (GRCm39) probably benign Het
Pitrm1 A G 13: 6,608,280 (GRCm39) D335G probably benign Het
Pkhd1 A T 1: 20,187,708 (GRCm39) N3533K probably benign Het
Pkp4 T C 2: 59,169,109 (GRCm39) L752P probably damaging Het
Plcb3 C A 19: 6,939,281 (GRCm39) E566* probably null Het
Ppef2 T C 5: 92,392,689 (GRCm39) K261R probably benign Het
Prdm14 A G 1: 13,184,585 (GRCm39) S529P probably damaging Het
Prune2 T C 19: 17,102,586 (GRCm39) S2582P probably benign Het
Sardh G A 2: 27,081,931 (GRCm39) T865I possibly damaging Het
Slc26a3 A T 12: 31,515,812 (GRCm39) I571F possibly damaging Het
Slc5a5 A T 8: 71,342,864 (GRCm39) M232K probably benign Het
Slc9a1 T A 4: 133,097,859 (GRCm39) M2K probably benign Het
Spata31e3 A T 13: 50,402,296 (GRCm39) D83E possibly damaging Het
Ss18l1 G A 2: 179,697,647 (GRCm39) S177N possibly damaging Het
Svs5 A T 2: 164,175,507 (GRCm39) I120L probably benign Het
Tcl1b1 G T 12: 105,126,074 (GRCm39) V19F probably damaging Het
Tmem108 C T 9: 103,361,889 (GRCm39) V566M probably damaging Het
Trmu C A 15: 85,763,604 (GRCm39) C9* probably null Het
Vnn1 A T 10: 23,775,499 (GRCm39) I250F possibly damaging Het
Vps13c T A 9: 67,879,285 (GRCm39) Y3409N probably damaging Het
Xrn1 T A 9: 95,873,322 (GRCm39) N695K probably benign Het
Zfp84 T A 7: 29,470,797 (GRCm39) M1K probably null Het
Zfyve26 G A 12: 79,326,841 (GRCm39) R761C probably damaging Het
Zp3r A G 1: 130,505,621 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCAGCAAGGCAACTCAGTAGCAAG -3'
(R):5'- GGTGACCATTTCCTCCCTGGAAAC -3'

Sequencing Primer
(F):5'- CAGTAGCAAGAACTGATTCCTTGAC -3'
(R):5'- TCCTCCCTGGAAACAGTGATG -3'
Posted On 2013-10-16