Incidental Mutation 'R1171:Cyp26b1'
ID 99395
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 039244-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1171 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 84548396-84570890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84553653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 167 (I167N)
Ref Sequence ENSEMBL: ENSMUSP00000144998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077705] [ENSMUST00000168003] [ENSMUST00000204109] [ENSMUST00000204146] [ENSMUST00000205228]
AlphaFold Q811W2
Predicted Effect probably benign
Transcript: ENSMUST00000077705
AA Change: I242N

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415
AA Change: I242N

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168003
AA Change: I242N

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415
AA Change: I242N

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204109
AA Change: I167N

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415
AA Change: I167N

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:p450 65 415 5.8e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204146
AA Change: I242N

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415
AA Change: I242N

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 490 8.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205228
AA Change: I51N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415
AA Change: I51N

DomainStartEndE-ValueType
Pfam:p450 13 299 5.9e-49 PFAM
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itpk1 G A 12: 102,572,378 (GRCm39) L112F probably damaging Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Myo1b A C 1: 51,817,684 (GRCm39) F532C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Npr2 A G 4: 43,647,260 (GRCm39) D772G possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pml A G 9: 58,141,821 (GRCm39) V337A probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Swt1 C T 1: 151,281,272 (GRCm39) A352T probably damaging Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly 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
R0268:Cyp26b1 UTSW 6 84,551,554 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2014-01-15