Incidental Mutation 'R1171:Cyp26b1'
ID99395
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 039244-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1171 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location84571414-84593908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84576671 bp
ZygosityHeterozygous
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]
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
1700017D01Rik T C 19: 11,112,377 Y48C probably damaging Het
Acsm5 A T 7: 119,540,852 E492V probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atr T C 9: 95,907,323 F1511L probably damaging Het
BC005561 T C 5: 104,520,903 V1097A possibly damaging Het
Bdkrb2 G T 12: 105,592,157 R219L probably benign Het
Bhmt2 A T 13: 93,662,329 M328K probably benign Het
Btbd3 A G 2: 138,283,961 D286G probably benign Het
Bub1b T G 2: 118,606,686 L122V probably benign Het
Caml T C 13: 55,625,007 S155P probably damaging Het
Cfap43 T C 19: 47,835,711 K74E probably benign Het
Chst4 A G 8: 110,030,623 S120P probably damaging Het
Col11a1 A G 3: 114,066,564 D213G unknown Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Cxcl10 CAC CACTAAC 5: 92,348,086 probably null Het
Dchs1 A G 7: 105,757,714 S2195P probably benign Het
Ddx25 T A 9: 35,546,846 K326* probably null Het
Dip2c A T 13: 9,493,126 Y36F possibly damaging Het
Dock2 T C 11: 34,695,241 D538G probably damaging Het
E4f1 C T 17: 24,451,549 D55N probably damaging Het
Emp1 G T 6: 135,381,079 W141L probably damaging Het
Faim2 T A 15: 99,500,254 H271L probably benign Het
Fbxw9 T C 8: 85,066,078 M352T possibly damaging Het
Fcrls A T 3: 87,256,860 F321I probably benign Het
Frzb C T 2: 80,438,490 probably null Het
Gal3st1 G T 11: 3,998,931 K379N probably damaging Het
Gm5519 G A 19: 33,822,972 C22Y possibly damaging Het
Gpn3 T C 5: 122,378,520 F71L probably benign Het
H2-M9 A G 17: 36,641,653 V167A probably benign Het
Hars A G 18: 36,771,414 F182L possibly damaging Het
Hid1 T C 11: 115,352,717 T502A probably benign Het
Hipk3 G T 2: 104,471,676 T57K probably benign Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itpk1 G A 12: 102,606,119 L112F probably damaging Het
Klk9 T A 7: 43,794,393 D110E possibly damaging Het
Lemd3 A T 10: 120,949,341 M535K possibly damaging Het
Lipg A T 18: 74,945,823 S453T possibly damaging Het
Lrrc75a A T 11: 62,609,243 W150R probably damaging Het
Lyg1 T C 1: 37,947,224 E143G probably damaging Het
Map3k1 A G 13: 111,755,643 V1026A probably benign Het
Mgat3 T A 15: 80,211,637 F222I probably benign Het
Mindy4 A T 6: 55,255,616 N348I possibly damaging Het
Myo1b A C 1: 51,778,525 F532C probably damaging Het
Naif1 T A 2: 32,452,546 N36K probably damaging Het
Nkpd1 C A 7: 19,524,087 A597E possibly damaging Het
Npr2 A G 4: 43,647,260 D772G possibly damaging Het
Olfr2 T C 7: 107,001,584 N92S probably benign Het
Olfr658 T G 7: 104,644,997 D123A probably damaging Het
Pcolce2 A T 9: 95,694,740 M355L probably benign Het
Pdgfra A T 5: 75,173,447 I394F probably damaging Het
Pdzrn3 G A 6: 101,150,877 R943C probably damaging Het
Pml A G 9: 58,234,538 V337A probably damaging Het
Pnpla2 T A 7: 141,458,881 M321K probably benign Het
Poln A T 5: 34,103,940 N546K probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prss28 T A 17: 25,310,055 F123L possibly damaging Het
Psg18 A G 7: 18,346,079 V399A probably benign Het
Rab5a T C 17: 53,506,415 C212R probably damaging Het
Ranbp6 A T 19: 29,812,279 D224E probably benign Het
Recql4 T C 15: 76,704,039 I1104M possibly damaging Het
Rev1 A T 1: 38,088,500 N226K possibly damaging Het
Rhbdl3 T A 11: 80,353,592 V375E possibly damaging Het
Senp6 T A 9: 80,116,725 N423K possibly damaging Het
Sertad2 C G 11: 20,648,091 L96V probably benign Het
Slc33a1 T A 3: 63,953,894 T296S probably benign Het
Smurf2 G A 11: 106,852,618 P188S possibly damaging Het
Spta1 T A 1: 174,211,614 Y1174* probably null Het
Stra6l A T 4: 45,864,982 T103S probably benign Het
Swt1 C T 1: 151,405,521 A352T probably damaging Het
Tdgf1 C A 9: 110,943,167 V54L probably benign Het
Tigd2 T A 6: 59,211,376 N409K possibly damaging Het
Tlr6 G T 5: 64,955,250 H105N probably benign Het
Tmprss9 A C 10: 80,879,858 T15P possibly damaging Het
Tnik C T 3: 28,532,940 T120M probably damaging Het
Tnr T A 1: 159,858,210 I337N probably damaging Het
Top3a A G 11: 60,750,593 Y422H probably benign Het
Trim67 A G 8: 124,829,081 N768S probably damaging Het
Ttn A G 2: 76,705,966 V35016A probably benign Het
Utrn A C 10: 12,481,308 S312R probably damaging Het
Vdac2 A G 14: 21,837,811 Y62C probably damaging Het
Vwa5b2 A G 16: 20,604,984 T1216A probably benign Het
Wfdc16 T C 2: 164,638,483 K31E possibly damaging Het
Wtip C T 7: 34,125,496 C221Y probably damaging Het
Xrn1 A G 9: 95,991,011 D640G possibly damaging Het
Zdhhc5 T C 2: 84,692,341 R293G probably benign Het
Zfp536 T C 7: 37,569,634 D119G probably damaging Het
Zfp81 T C 17: 33,335,280 T187A probably benign Het
Zfp810 C T 9: 22,278,826 G262D possibly damaging Het
Zfp963 A C 8: 69,743,019 I203M possibly damaging Het
Zfpm2 T C 15: 41,101,679 M520T probably damaging Het
Zswim8 G A 14: 20,713,113 R360Q possibly damaging Het
Zwilch T A 9: 64,158,717 H254L possibly damaging 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
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
R7229:Cyp26b1 UTSW 6 84577150 nonsense probably null
R7497:Cyp26b1 UTSW 6 84576982 missense possibly damaging 0.55
R7672:Cyp26b1 UTSW 6 84584369 missense probably benign 0.04
X0063:Cyp26b1 UTSW 6 84575118 missense probably benign 0.00
Z1176:Cyp26b1 UTSW 6 84577114 missense probably benign 0.01
Z1177:Cyp26b1 UTSW 6 84577119 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15