Incidental Mutation 'R0905:Cyp2w1'
ID 83281
Institutional Source Beutler Lab
Gene Symbol Cyp2w1
Ensembl Gene ENSMUSG00000029541
Gene Name cytochrome P450, family 2, subfamily w, polypeptide 1
Synonyms
MMRRC Submission 039063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0905 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 139338372-139342788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139342194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 380 (Y380F)
Ref Sequence ENSEMBL: ENSMUSP00000031521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031521] [ENSMUST00000066052] [ENSMUST00000197955] [ENSMUST00000198474]
AlphaFold E9Q816
Predicted Effect probably benign
Transcript: ENSMUST00000031521
AA Change: Y380F

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031521
Gene: ENSMUSG00000029541
AA Change: Y380F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:p450 35 489 9.5e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066052
SMART Domains Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 103 165 3e-26 PFAM
low complexity region 184 194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197955
AA Change: Y176F

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143138
Gene: ENSMUSG00000029541
AA Change: Y176F

DomainStartEndE-ValueType
Pfam:p450 1 201 1.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198474
SMART Domains Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553

DomainStartEndE-ValueType
low complexity region 54 77 N/A INTRINSIC
Pfam:DUF2373 102 141 9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200478
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.6%
Validation Efficiency 100% (42/42)
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 G A 2: 20,854,745 (GRCm39) T1539M possibly damaging Het
Birc2 A T 9: 7,851,052 (GRCm39) *138R probably null Het
Bsn C A 9: 107,982,834 (GRCm39) D3640Y unknown Het
Bsph1 A T 7: 13,184,839 (GRCm39) M1L probably benign Het
Cdkl1 A T 12: 69,803,338 (GRCm39) Y179* probably null Het
Cfap74 G A 4: 155,503,153 (GRCm39) probably null Het
Crtc1 A T 8: 70,843,905 (GRCm39) S454T probably damaging Het
Cspg5 A T 9: 110,075,594 (GRCm39) D110V probably damaging Het
Dbn1 T C 13: 55,622,040 (GRCm39) probably benign Het
Epb41l4b T C 4: 57,103,528 (GRCm39) K103E probably damaging Het
Eps8 C T 6: 137,491,305 (GRCm39) V358I probably benign Het
Gm12253 G T 11: 58,330,846 (GRCm39) probably benign Het
Hltf T A 3: 20,163,033 (GRCm39) probably null Het
Hsd17b11 C T 5: 104,157,744 (GRCm39) V123I probably benign Het
Il31ra T A 13: 112,668,207 (GRCm39) E481V probably damaging Het
Impdh2 A G 9: 108,438,296 (GRCm39) probably benign Het
Itih5 G A 2: 10,253,999 (GRCm39) R750Q probably benign Het
Kndc1 A C 7: 139,503,651 (GRCm39) K985T possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lgsn A T 1: 31,242,824 (GRCm39) Y302F probably damaging Het
Lrp1b A G 2: 41,174,197 (GRCm39) S1541P probably damaging Het
Mast4 A G 13: 102,907,292 (GRCm39) M528T probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndufs2 T C 1: 171,063,922 (GRCm39) probably null Het
Nwd1 G A 8: 73,436,077 (GRCm39) V1436M probably damaging Het
Phf12 C T 11: 77,900,230 (GRCm39) R109* probably null Het
Pml A G 9: 58,156,822 (GRCm39) probably null Het
Ppfia2 T C 10: 106,655,372 (GRCm39) I313T probably benign Het
Prdm14 C T 1: 13,195,662 (GRCm39) G133D probably benign Het
Ptgr3 A G 18: 84,113,332 (GRCm39) H336R probably benign Het
Pygl A G 12: 70,257,791 (GRCm39) probably benign Het
Rassf10 C T 7: 112,554,575 (GRCm39) T392M probably damaging Het
Rpe65 T C 3: 159,307,220 (GRCm39) S54P possibly damaging Het
Sema5b T C 16: 35,443,001 (GRCm39) V2A probably benign Het
Sgsm3 T C 15: 80,895,546 (GRCm39) I699T probably damaging Het
Spn T C 7: 126,735,503 (GRCm39) T335A probably damaging Het
Tecta T C 9: 42,250,290 (GRCm39) D1834G probably damaging Het
Trp53bp1 C A 2: 121,034,799 (GRCm39) probably benign Het
Ttc3 A T 16: 94,257,648 (GRCm39) K1652* probably null Het
Other mutations in Cyp2w1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02163:Cyp2w1 APN 5 139,341,920 (GRCm39) missense probably damaging 1.00
IGL02174:Cyp2w1 APN 5 139,341,384 (GRCm39) missense probably benign 0.06
IGL02797:Cyp2w1 APN 5 139,342,628 (GRCm39) missense probably damaging 1.00
R1765:Cyp2w1 UTSW 5 139,339,623 (GRCm39) missense probably damaging 1.00
R4739:Cyp2w1 UTSW 5 139,342,430 (GRCm39) missense probably damaging 1.00
R5422:Cyp2w1 UTSW 5 139,338,528 (GRCm39) missense probably benign 0.00
R6968:Cyp2w1 UTSW 5 139,339,746 (GRCm39) missense probably damaging 0.97
R7434:Cyp2w1 UTSW 5 139,342,775 (GRCm39) missense possibly damaging 0.88
R7793:Cyp2w1 UTSW 5 139,341,895 (GRCm39) missense probably damaging 0.99
R9011:Cyp2w1 UTSW 5 139,340,314 (GRCm39) missense possibly damaging 0.94
R9025:Cyp2w1 UTSW 5 139,342,470 (GRCm39) missense probably benign 0.35
R9393:Cyp2w1 UTSW 5 139,342,035 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGAGAGTCACCCCATGATAGAGAGC -3'
(R):5'- TTGTCCAGGAGGACTGAAGTGAGC -3'

Sequencing Primer
(F):5'- GGCTTCACCCATACAGTGC -3'
(R):5'- GGAATCACAGGAGTGCCC -3'
Posted On 2013-11-08