Incidental Mutation 'R8819:Cyp2u1'
ID 672915
Institutional Source Beutler Lab
Gene Symbol Cyp2u1
Ensembl Gene ENSMUSG00000027983
Gene Name cytochrome P450, family 2, subfamily u, polypeptide 1
Synonyms 8430436A10Rik
MMRRC Submission 068652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R8819 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 131084140-131097806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131092016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 168 (H168R)
Ref Sequence ENSEMBL: ENSMUSP00000101944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106337] [ENSMUST00000200236]
AlphaFold Q9CX98
Predicted Effect probably damaging
Transcript: ENSMUST00000106337
AA Change: H168R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: H168R

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 69 527 4.2e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200236
AA Change: H168R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: H168R

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 0.3593 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,576 (GRCm39) L266P probably damaging Het
Als2cl T C 9: 110,714,855 (GRCm39) F125L probably benign Het
Arhgap33 T C 7: 30,228,165 (GRCm39) I406V probably benign Het
Bag5 T C 12: 111,677,709 (GRCm39) N38S probably benign Het
Clk2 T A 3: 89,082,730 (GRCm39) M392K probably damaging Het
Cngb1 C T 8: 95,980,037 (GRCm39) probably null Het
Cps1 T A 1: 67,267,439 (GRCm39) N1402K possibly damaging Het
Cracd CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG C 5: 77,004,793 (GRCm39) probably benign Het
Dapl1 T C 2: 59,335,056 (GRCm39) L70P probably damaging Het
Ddr2 T A 1: 169,805,483 (GRCm39) K836* probably null Het
Dnmbp C T 19: 43,889,854 (GRCm39) V638M probably benign Het
Dsel A G 1: 111,787,994 (GRCm39) L847P probably benign Het
Eef1b2 T C 1: 63,217,268 (GRCm39) probably benign Het
Eif1ad8 C T 12: 87,563,910 (GRCm39) R82* probably null Het
Fbll1 T C 11: 35,688,802 (GRCm39) K154E probably benign Het
Fbxw17 A T 13: 50,587,351 (GRCm39) K437M possibly damaging Het
Fktn T C 4: 53,735,001 (GRCm39) V174A possibly damaging Het
Frem1 C A 4: 82,821,754 (GRCm39) S2118I probably damaging Het
Gabrb3 T C 7: 57,442,329 (GRCm39) S212P probably damaging Het
Gimap9 A G 6: 48,654,821 (GRCm39) D136G probably benign Het
Hps1 T C 19: 42,759,648 (GRCm39) I55V probably benign Het
Huwe1 A G X: 150,669,993 (GRCm39) K1482R probably benign Het
Ift46 C T 9: 44,701,819 (GRCm39) T283I probably damaging Het
Ldb2 G A 5: 44,956,757 (GRCm39) Q27* probably null Het
Lmcd1 T A 6: 112,306,770 (GRCm39) I314N probably damaging Het
Lypd9 T G 11: 58,337,129 (GRCm39) S115R probably damaging Het
Mctp2 C A 7: 71,879,081 (GRCm39) V259L probably benign Het
Midn T G 10: 79,990,234 (GRCm39) S302A probably damaging Het
Ncor2 A G 5: 125,106,291 (GRCm39) V797A Het
Npm2 A G 14: 70,885,768 (GRCm39) S146P probably damaging Het
Npr1 G A 3: 90,372,201 (GRCm39) R204C probably damaging Het
Or2w2 G A 13: 21,757,999 (GRCm39) S209L probably benign Het
Or52n3 T A 7: 104,530,862 (GRCm39) V316D possibly damaging Het
Or6e1 C T 14: 54,520,070 (GRCm39) G94D probably benign Het
Paip2b A C 6: 83,791,738 (GRCm39) M48R probably damaging Het
Pcsk2 T A 2: 143,642,990 (GRCm39) H422Q probably damaging Het
Pdzph1 G C 17: 59,187,715 (GRCm39) Y1168* probably null Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Prelp T C 1: 133,842,878 (GRCm39) N89S probably damaging Het
Rapgef3 T C 15: 97,646,538 (GRCm39) N799S probably benign Het
Rel C T 11: 23,695,626 (GRCm39) R219H probably damaging Het
Relch T A 1: 105,654,179 (GRCm39) F873L possibly damaging Het
Rimbp3 T C 16: 17,028,771 (GRCm39) S732P probably benign Het
Rock1 A G 18: 10,070,626 (GRCm39) F1196S probably damaging Het
Ryr3 A G 2: 112,690,069 (GRCm39) V1180A probably benign Het
Ryr3 G A 2: 112,466,137 (GRCm39) R4795W probably damaging Het
Scn11a T C 9: 119,645,586 (GRCm39) I123V probably benign Het
Sema4b G C 7: 79,870,248 (GRCm39) E475D probably damaging Het
Serinc2 C A 4: 130,149,172 (GRCm39) M343I probably damaging Het
Serinc5 G T 13: 92,844,544 (GRCm39) V429F probably benign Het
Tnfsf10 G A 3: 27,389,451 (GRCm39) V171M probably benign Het
Zfp27 T C 7: 29,594,013 (GRCm39) K651E probably benign Het
Zfp438 A G 18: 5,213,383 (GRCm39) I525T 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
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
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'- TGCAGGCAGATTTCCAACC -3'
(R):5'- TCTGCATCTGAACATTGGCC -3'

Sequencing Primer
(F):5'- TGTAATCGAAGCGCTGGC -3'
(R):5'- CTGCATCTGAACATTGGCCTAGAG -3'
Posted On 2021-04-30