Incidental Mutation 'R4306:Cyp27b1'
ID 324038
Institutional Source Beutler Lab
Gene Symbol Cyp27b1
Ensembl Gene ENSMUSG00000006724
Gene Name cytochrome P450, family 27, subfamily b, polypeptide 1
Synonyms 1alpha(OH)ase, 25-hydroxyvitamin D3 1alpha-hydroxylase, 25(OH)D 1alpha-hydroxylase, Cyp40, Cp2b, Cyp1, Pddr, Vdd1, Vddr, Cyp27b, P450c1, VddrI, P450VD1alpha
MMRRC Submission 041092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4306 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 126884119-126888875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126886957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 391 (D391G)
Ref Sequence ENSEMBL: ENSMUSP00000130005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000040307] [ENSMUST00000165764] [ENSMUST00000172069]
AlphaFold O35084
Predicted Effect probably benign
Transcript: ENSMUST00000006915
SMART Domains Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
Pfam:Methyltransf_4 70 248 3.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040307
SMART Domains Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502

DomainStartEndE-ValueType
low complexity region 20 45 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
low complexity region 76 105 N/A INTRINSIC
RINGv 109 156 7.51e-18 SMART
transmembrane domain 183 205 N/A INTRINSIC
Blast:AAA 211 238 2e-9 BLAST
low complexity region 267 284 N/A INTRINSIC
low complexity region 291 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165764
AA Change: D391G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: D391G

DomainStartEndE-ValueType
Pfam:p450 40 504 7.1e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171868
Predicted Effect probably benign
Transcript: ENSMUST00000172069
Meta Mutation Damage Score 0.1260 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (33/34)
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. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Chrdl2 A G 7: 99,671,229 (GRCm39) T116A probably damaging Het
Chst12 T C 5: 140,510,401 (GRCm39) F343L probably damaging Het
Cpeb2 T A 5: 43,392,578 (GRCm39) probably benign Het
Dll3 T C 7: 28,001,082 (GRCm39) probably null Het
Dnah7b T A 1: 46,260,932 (GRCm39) I2030N probably damaging Het
Fap C T 2: 62,361,051 (GRCm39) probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Fzd7 T C 1: 59,523,566 (GRCm39) V483A probably damaging Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Gprc6a T C 10: 51,492,735 (GRCm39) H539R probably damaging Het
Irs1 C T 1: 82,265,685 (GRCm39) A844T probably benign Het
Myo1a T G 10: 127,549,950 (GRCm39) S477A probably benign Het
Naga C T 15: 82,221,095 (GRCm39) W67* probably null Het
Or51ah3 G C 7: 103,210,380 (GRCm39) R232T possibly damaging Het
Or51ah3 A T 7: 103,210,379 (GRCm39) R232* probably null Het
Osbpl1a T C 18: 12,952,652 (GRCm39) E87G probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rb1 G A 14: 73,500,135 (GRCm39) T504I probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Slit2 T A 5: 48,460,125 (GRCm39) N1385K possibly damaging Het
Spaca7b T A 8: 11,728,590 (GRCm39) N27I probably damaging Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Trip11 A G 12: 101,853,198 (GRCm39) F465L probably benign Het
Usp31 G A 7: 121,306,152 (GRCm39) P109S possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r71 G T 7: 85,273,360 (GRCm39) D725Y probably damaging Het
Zfp459 T C 13: 67,561,307 (GRCm39) K47R probably damaging Het
Other mutations in Cyp27b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Cyp27b1 APN 10 126,885,551 (GRCm39) missense probably benign 0.19
IGL01147:Cyp27b1 APN 10 126,886,255 (GRCm39) missense possibly damaging 0.94
IGL02370:Cyp27b1 APN 10 126,886,543 (GRCm39) splice site probably benign
IGL02670:Cyp27b1 APN 10 126,886,227 (GRCm39) missense probably benign 0.01
IGL02671:Cyp27b1 APN 10 126,886,912 (GRCm39) splice site probably null
R0483:Cyp27b1 UTSW 10 126,886,026 (GRCm39) missense probably benign 0.02
R0517:Cyp27b1 UTSW 10 126,885,985 (GRCm39) splice site probably null
R0645:Cyp27b1 UTSW 10 126,884,967 (GRCm39) missense probably benign 0.02
R1479:Cyp27b1 UTSW 10 126,887,580 (GRCm39) critical splice donor site probably null
R1491:Cyp27b1 UTSW 10 126,886,957 (GRCm39) missense probably damaging 0.98
R1830:Cyp27b1 UTSW 10 126,884,952 (GRCm39) missense possibly damaging 0.92
R1929:Cyp27b1 UTSW 10 126,884,181 (GRCm39) missense probably damaging 1.00
R2162:Cyp27b1 UTSW 10 126,886,929 (GRCm39) missense probably damaging 1.00
R2281:Cyp27b1 UTSW 10 126,884,163 (GRCm39) missense probably damaging 0.99
R2291:Cyp27b1 UTSW 10 126,884,163 (GRCm39) missense possibly damaging 0.80
R3831:Cyp27b1 UTSW 10 126,886,929 (GRCm39) missense probably damaging 1.00
R3832:Cyp27b1 UTSW 10 126,886,929 (GRCm39) missense probably damaging 1.00
R3833:Cyp27b1 UTSW 10 126,886,929 (GRCm39) missense probably damaging 1.00
R5213:Cyp27b1 UTSW 10 126,887,964 (GRCm39) missense probably damaging 1.00
R5405:Cyp27b1 UTSW 10 126,886,255 (GRCm39) missense possibly damaging 0.94
R5463:Cyp27b1 UTSW 10 126,887,966 (GRCm39) missense possibly damaging 0.89
R5906:Cyp27b1 UTSW 10 126,884,267 (GRCm39) missense probably damaging 1.00
R6181:Cyp27b1 UTSW 10 126,886,279 (GRCm39) missense probably damaging 1.00
R6515:Cyp27b1 UTSW 10 126,884,119 (GRCm39) start gained probably benign
R7249:Cyp27b1 UTSW 10 126,886,918 (GRCm39) critical splice acceptor site probably null
R8075:Cyp27b1 UTSW 10 126,887,382 (GRCm39) missense probably damaging 1.00
R9425:Cyp27b1 UTSW 10 126,886,006 (GRCm39) missense probably damaging 1.00
R9686:Cyp27b1 UTSW 10 126,886,185 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCCCTGTTAAAGGCTGTG -3'
(R):5'- CCAGTTTAAAAGTGGGCCTTGG -3'

Sequencing Primer
(F):5'- CCCCTGTTAAAGGCTGTGATCAAAG -3'
(R):5'- AAAAGTGGGCCTTGGTTGTTG -3'
Posted On 2015-06-24