Incidental Mutation 'R7229:Cyp26b1'
Institutional Source Beutler Lab
Gene Symbol Cyp26b1
Ensembl Gene ENSMUSG00000063415
Gene Namecytochrome P450, family 26, subfamily b, polypeptide 1
SynonymsP450RAI-2, CP26, retinoic acid B1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7229 (G1)
Quality Score225.009
Status Validated
Chromosomal Location84571414-84593908 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 84577150 bp
Amino Acid Change Glutamine to Stop codon at position 162 (Q162*)
Ref Sequence ENSEMBL: ENSMUSP00000076886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077705] [ENSMUST00000168003] [ENSMUST00000204109] [ENSMUST00000204146] [ENSMUST00000205228]
Predicted Effect probably null
Transcript: ENSMUST00000077705
AA Change: Q162*
SMART Domains Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: Q162*

transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168003
AA Change: Q162*
SMART Domains Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: Q162*

transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204109
AA Change: Q87*
SMART Domains Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: Q87*

signal peptide 1 30 N/A INTRINSIC
Pfam:p450 65 415 5.8e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204146
AA Change: Q162*
SMART Domains Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: Q162*

transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205228
SMART Domains Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415

Pfam:p450 13 299 5.9e-49 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Limb morphogenesis and proximal-distal patterning is disrupted in homozygous null fetuses. Mutant mice are born, however they die immediately after birth exhibiting respiratory distress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,595,352 E122G probably benign Het
Adamts2 T C 11: 50,791,820 Y880H probably damaging Het
Atp13a4 A G 16: 29,420,905 S830P probably benign Het
Atp1a3 T A 7: 24,987,985 Q696L probably benign Het
Brox G A 1: 183,291,959 R85* probably null Het
C130073F10Rik T C 4: 101,890,242 I197V probably benign Het
Cand2 G A 6: 115,791,192 V433M probably damaging Het
Cep83 A G 10: 94,719,665 K74E probably damaging Het
Chrng A T 1: 87,209,444 T275S probably benign Het
Clca2 T C 3: 145,084,108 D489G probably damaging Het
Cmtr1 A G 17: 29,695,424 probably null Het
Cnga1 T C 5: 72,618,249 N43S probably benign Het
Cog8 A T 8: 107,056,352 C102S probably damaging Het
Cpsf3 G A 12: 21,296,737 probably null Het
Elmod3 A G 6: 72,594,753 F14S probably benign Het
Eps8 A G 6: 137,539,356 S9P probably benign Het
Fam105a G A 15: 27,658,187 T199M probably benign Het
Fam184b T C 5: 45,584,175 Q238R probably damaging Het
Fbxw7 T C 3: 84,977,369 L654S unknown Het
Foxp1 A T 6: 98,935,412 L580Q unknown Het
Galr1 A G 18: 82,405,664 S163P probably damaging Het
Ganc T C 2: 120,427,775 F201L possibly damaging Het
Gin1 T C 1: 97,785,151 F310L probably benign Het
Grik2 A T 10: 49,101,416 probably null Het
Haus1 A T 18: 77,764,134 F94I probably benign Het
Hcn4 A G 9: 58,853,399 Y409C unknown Het
Hspa1l A G 17: 34,977,255 K90R probably benign Het
Icam5 T C 9: 21,037,001 S702P possibly damaging Het
Ifnar1 A G 16: 91,499,556 H315R probably benign Het
Klra9 T C 6: 130,191,261 H14R probably damaging Het
Krt78 A G 15: 101,947,394 Y661H probably benign Het
Krtap11-1 T C 16: 89,570,925 T69A possibly damaging Het
L3mbtl3 C A 10: 26,292,662 S598I unknown Het
Lama1 A T 17: 67,752,446 D608V Het
Lrrc55 G A 2: 85,196,440 T80I probably damaging Het
Lyst A T 13: 13,643,509 T1255S probably benign Het
Magi2 T C 5: 20,465,588 V310A probably damaging Het
Med23 C A 10: 24,902,004 A750D probably benign Het
Mmp2 G A 8: 92,831,786 R161Q probably damaging Het
Myo15 A T 11: 60,496,495 I733F probably benign Het
Ncan A T 8: 70,100,311 F1090L possibly damaging Het
Olfr701 T G 7: 106,818,995 V304G probably damaging Het
Pafah1b1 A G 11: 74,682,278 I320T probably damaging Het
Pcdhb1 T A 18: 37,266,687 Y564N probably damaging Het
Pear1 A G 3: 87,750,289 S988P probably benign Het
Pgam2 A C 11: 5,803,013 V194G probably damaging Het
Plvap A T 8: 71,511,577 I47N probably damaging Het
Prdx6 A T 1: 161,247,297 L71H probably damaging Het
Psmb11 G A 14: 54,625,951 V209M probably damaging Het
Ptprn2 G A 12: 117,227,225 probably null Het
Rcn2 T A 9: 56,057,479 N240K probably benign Het
Rsad2 A T 12: 26,454,123 Y136N probably damaging Het
Slc12a4 T G 8: 105,946,737 Q734P probably benign Het
Smarcc2 T A 10: 128,488,048 M1085K unknown Het
Smg1 A T 7: 118,176,955 C1371S probably benign Het
Spg11 A T 2: 122,108,104 F456L probably damaging Het
Srsf10 C T 4: 135,856,217 probably benign Het
Stxbp5 T C 10: 9,798,187 Y4C probably damaging Het
Tdrd12 T A 7: 35,480,280 D881V unknown Het
Tmem171 T C 13: 98,692,625 T6A probably benign Het
Tmem220 T C 11: 67,026,163 L55P unknown Het
Ttn G T 2: 76,846,781 P11037Q unknown Het
Tulp4 C T 17: 6,231,780 H695Y probably damaging Het
Usp47 T C 7: 112,092,877 S849P probably benign Het
Vcan G A 13: 89,705,270 P524S possibly damaging Het
Vmn1r18 A G 6: 57,390,098 M157T probably benign Het
Vmn2r109 A T 17: 20,540,963 C711S possibly damaging Het
Wasf3 C T 5: 146,455,653 R178C probably damaging Het
Wdr76 G A 2: 121,528,920 V231I probably damaging Het
Xirp2 A T 2: 67,525,551 N3552I probably damaging Het
Zfp804a A G 2: 82,258,625 T933A probably benign Het
Zmynd8 A G 2: 165,858,053 probably null Het
Zranb3 A T 1: 128,040,893 I95K probably benign Het
Other mutations in Cyp26b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Cyp26b1 APN 6 84574301 missense probably benign 0.00
IGL02530:Cyp26b1 APN 6 84574312 missense possibly damaging 0.95
IGL02624:Cyp26b1 APN 6 84584339 missense probably benign 0.00
IGL02676:Cyp26b1 APN 6 84576644 missense probably damaging 1.00
R0125:Cyp26b1 UTSW 6 84574515 missense probably damaging 1.00
R0127:Cyp26b1 UTSW 6 84577208 splice site probably benign
R0268:Cyp26b1 UTSW 6 84574572 missense probably damaging 1.00
R0281:Cyp26b1 UTSW 6 84574556 missense probably damaging 1.00
R0575:Cyp26b1 UTSW 6 84575306 splice site probably benign
R1167:Cyp26b1 UTSW 6 84584330 missense probably damaging 1.00
R1171:Cyp26b1 UTSW 6 84576671 missense possibly damaging 0.64
R1512:Cyp26b1 UTSW 6 84576997 missense probably benign 0.16
R1791:Cyp26b1 UTSW 6 84584459 missense probably benign 0.05
R1799:Cyp26b1 UTSW 6 84584272 missense probably benign 0.37
R2065:Cyp26b1 UTSW 6 84576555 missense probably benign 0.00
R2103:Cyp26b1 UTSW 6 84575050 missense possibly damaging 0.67
R2900:Cyp26b1 UTSW 6 84576641 missense possibly damaging 0.70
R4510:Cyp26b1 UTSW 6 84574491 missense probably damaging 1.00
R4511:Cyp26b1 UTSW 6 84574491 missense probably damaging 1.00
R4934:Cyp26b1 UTSW 6 84576972 missense possibly damaging 0.65
R5585:Cyp26b1 UTSW 6 84577189 missense probably damaging 0.99
R7497:Cyp26b1 UTSW 6 84576982 missense possibly damaging 0.55
X0063:Cyp26b1 UTSW 6 84575118 missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-06-26