Incidental Mutation 'R0268:Cyp26b1'
ID 35064
Institutional Source Beutler Lab
Gene Symbol Cyp26b1
Ensembl Gene ENSMUSG00000063415
Gene Name cytochrome P450, family 26, subfamily b, polypeptide 1
Synonyms retinoic acid B1, CP26, P450RAI-2
MMRRC Submission 038494-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0268 (G1)
Quality Score 146
Status Validated
Chromosome 6
Chromosomal Location 84548396-84570890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84551554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 221 (F221I)
Ref Sequence ENSEMBL: ENSMUSP00000144836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077705] [ENSMUST00000168003] [ENSMUST00000204109] [ENSMUST00000204146] [ENSMUST00000205228]
AlphaFold Q811W2
Predicted Effect probably damaging
Transcript: ENSMUST00000077705
AA Change: F412I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: F412I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168003
AA Change: F412I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: F412I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204109
AA Change: F337I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: F337I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:p450 65 415 5.8e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204146
AA Change: F412I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: F412I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205228
AA Change: F221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: F221I

DomainStartEndE-ValueType
Pfam:p450 13 299 5.9e-49 PFAM
Meta Mutation Damage Score 0.9516 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 95.9%
  • 20x: 93.0%
Validation Efficiency 98% (93/95)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,274,027 (GRCm39) noncoding transcript Het
Aadacl4 A T 4: 144,349,565 (GRCm39) H274L probably benign Het
Aldh1a7 T A 19: 20,686,866 (GRCm39) probably null Het
Ap3m1 A C 14: 21,087,170 (GRCm39) probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Avpr1a T C 10: 122,285,614 (GRCm39) V302A probably damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Cd209e T C 8: 3,899,125 (GRCm39) I196V probably benign Het
Cdc42bpa G T 1: 179,983,347 (GRCm39) probably benign Het
Cdcp3 A G 7: 130,839,905 (GRCm39) D609G probably damaging Het
Clec16a T A 16: 10,462,692 (GRCm39) L670* probably null Het
Cmtm2b A G 8: 105,049,066 (GRCm39) E27G probably damaging Het
Col4a1 T A 8: 11,317,588 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dip2c G A 13: 9,687,186 (GRCm39) R1270H probably damaging Het
Dlg1 T C 16: 31,503,011 (GRCm39) C73R probably benign Het
Dnah8 A G 17: 30,988,681 (GRCm39) D3217G probably damaging Het
Dtx1 T C 5: 120,819,356 (GRCm39) E614G probably damaging Het
Dut C A 2: 125,099,011 (GRCm39) A166E probably damaging Het
Ebf1 C A 11: 44,534,240 (GRCm39) D166E probably damaging Het
Egln2 A T 7: 26,864,672 (GRCm39) D84E possibly damaging Het
Exosc7 T A 9: 122,948,025 (GRCm39) S65T probably benign Het
Fam83e G A 7: 45,376,334 (GRCm39) R349Q probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fras1 A G 5: 96,884,868 (GRCm39) N2582S probably damaging Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gls GGCTGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTGCTG 1: 52,271,853 (GRCm39) probably benign Het
Hcn4 A C 9: 58,767,445 (GRCm39) E1002A unknown Het
Hcrtr2 A G 9: 76,135,470 (GRCm39) V449A probably benign Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 C A 12: 51,815,890 (GRCm39) S1394I probably damaging Het
Hecw2 A G 1: 53,965,857 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itsn2 G A 12: 4,750,333 (GRCm39) R1199Q probably benign Het
Kcnj3 C A 2: 55,484,971 (GRCm39) Y356* probably null Het
Klb T A 5: 65,506,180 (GRCm39) D142E probably benign Het
Klhl35 T A 7: 99,120,958 (GRCm39) S409T probably benign Het
Krt16 T A 11: 100,137,351 (GRCm39) probably benign Het
Krt82 C A 15: 101,450,148 (GRCm39) R516L probably benign Het
Lce3a A T 3: 92,833,038 (GRCm39) C21S unknown Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Map2 A T 1: 66,419,881 (GRCm39) K71* probably null Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Mycbp2 T A 14: 103,551,761 (GRCm39) R157* probably null Het
Nat10 C A 2: 103,558,262 (GRCm39) probably benign Het
Obscn G A 11: 58,958,098 (GRCm39) T3810M possibly damaging Het
Or13a19 G A 7: 139,903,068 (GRCm39) S152N possibly damaging Het
Or1x6 T A 11: 50,939,768 (GRCm39) M278K probably damaging Het
Or5d35 A T 2: 87,855,812 (GRCm39) I249F probably damaging Het
Or5g29 A G 2: 85,421,645 (GRCm39) T254A possibly damaging Het
Or6c209 A T 10: 129,483,045 (GRCm39) D16V possibly damaging Het
Or7a38 C T 10: 78,753,439 (GRCm39) T255I probably damaging Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgm2 T A 5: 64,263,151 (GRCm39) V266E probably damaging Het
Phip G A 9: 82,753,341 (GRCm39) T1801I probably damaging Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Ppp1r12a T A 10: 108,109,242 (GRCm39) probably benign Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Ptprq A T 10: 107,541,409 (GRCm39) D372E probably benign Het
Ptprr G A 10: 116,088,868 (GRCm39) V340I possibly damaging Het
Qki A G 17: 10,428,575 (GRCm39) probably benign Het
Qpct T A 17: 79,385,081 (GRCm39) D240E probably benign Het
Ren1 A G 1: 133,283,349 (GRCm39) T162A possibly damaging Het
Rif1 T C 2: 51,980,298 (GRCm39) probably null Het
Sart3 A G 5: 113,890,460 (GRCm39) V461A probably damaging Het
Saxo4 A G 19: 10,454,449 (GRCm39) V329A possibly damaging Het
Scgb1b24 G A 7: 33,443,278 (GRCm39) G19R probably null Het
Spen A T 4: 141,204,868 (GRCm39) I1253N unknown Het
Sspo C A 6: 48,442,489 (GRCm39) H1995N probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Togaram2 T C 17: 72,004,993 (GRCm39) probably null Het
Trim65 T A 11: 116,017,470 (GRCm39) probably benign Het
Trpm3 T A 19: 22,874,885 (GRCm39) probably null Het
Ubxn7 T C 16: 32,178,864 (GRCm39) I87T probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r102 A G 17: 19,898,112 (GRCm39) T376A probably benign Het
Vmn2r105 A T 17: 20,428,938 (GRCm39) C713S probably benign Het
Zbtb45 C T 7: 12,742,254 (GRCm39) M1I probably null Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign Het
Zfp932 T C 5: 110,156,929 (GRCm39) I176T probably benign Het
Zswim1 G A 2: 164,668,046 (GRCm39) E433K probably damaging Het
Other mutations in Cyp26b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Cyp26b1 APN 6 84,551,283 (GRCm39) missense probably benign 0.00
IGL02530:Cyp26b1 APN 6 84,551,294 (GRCm39) missense possibly damaging 0.95
IGL02624:Cyp26b1 APN 6 84,561,321 (GRCm39) missense probably benign 0.00
IGL02676:Cyp26b1 APN 6 84,553,626 (GRCm39) missense probably damaging 1.00
R0125:Cyp26b1 UTSW 6 84,551,497 (GRCm39) missense probably damaging 1.00
R0127:Cyp26b1 UTSW 6 84,554,190 (GRCm39) splice site probably benign
R0281:Cyp26b1 UTSW 6 84,551,538 (GRCm39) missense probably damaging 1.00
R0575:Cyp26b1 UTSW 6 84,552,288 (GRCm39) splice site probably benign
R1167:Cyp26b1 UTSW 6 84,561,312 (GRCm39) missense probably damaging 1.00
R1171:Cyp26b1 UTSW 6 84,553,653 (GRCm39) missense possibly damaging 0.64
R1512:Cyp26b1 UTSW 6 84,553,979 (GRCm39) missense probably benign 0.16
R1791:Cyp26b1 UTSW 6 84,561,441 (GRCm39) missense probably benign 0.05
R1799:Cyp26b1 UTSW 6 84,561,254 (GRCm39) missense probably benign 0.37
R2065:Cyp26b1 UTSW 6 84,553,537 (GRCm39) missense probably benign 0.00
R2103:Cyp26b1 UTSW 6 84,552,032 (GRCm39) missense possibly damaging 0.67
R2900:Cyp26b1 UTSW 6 84,553,623 (GRCm39) missense possibly damaging 0.70
R4510:Cyp26b1 UTSW 6 84,551,473 (GRCm39) missense probably damaging 1.00
R4511:Cyp26b1 UTSW 6 84,551,473 (GRCm39) missense probably damaging 1.00
R4934:Cyp26b1 UTSW 6 84,553,954 (GRCm39) missense possibly damaging 0.65
R5585:Cyp26b1 UTSW 6 84,554,171 (GRCm39) missense probably damaging 0.99
R7229:Cyp26b1 UTSW 6 84,554,132 (GRCm39) nonsense probably null
R7497:Cyp26b1 UTSW 6 84,553,964 (GRCm39) missense possibly damaging 0.55
R7672:Cyp26b1 UTSW 6 84,561,351 (GRCm39) missense probably benign 0.04
R8346:Cyp26b1 UTSW 6 84,554,150 (GRCm39) missense probably benign 0.21
R9020:Cyp26b1 UTSW 6 84,552,056 (GRCm39) missense probably benign 0.09
R9029:Cyp26b1 UTSW 6 84,554,035 (GRCm39) missense probably benign 0.20
R9042:Cyp26b1 UTSW 6 84,553,590 (GRCm39) missense probably benign 0.18
R9068:Cyp26b1 UTSW 6 84,551,379 (GRCm39) missense probably damaging 0.96
R9536:Cyp26b1 UTSW 6 84,553,999 (GRCm39) missense probably benign 0.02
R9779:Cyp26b1 UTSW 6 84,552,113 (GRCm39) missense probably benign
X0063:Cyp26b1 UTSW 6 84,552,100 (GRCm39) missense probably benign 0.00
Z1176:Cyp26b1 UTSW 6 84,554,096 (GRCm39) missense probably benign 0.01
Z1177:Cyp26b1 UTSW 6 84,554,101 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACTTGACACTGAGGCCATCCAC -3'
(R):5'- ATGCAGAGCTGAGTGAAGCCAACC -3'

Sequencing Primer
(F):5'- ATCCACGGGGTGCAAGAC -3'
(R):5'- TGAGTGAAGCCAACCTGTGTG -3'
Posted On 2013-05-09