Incidental Mutation 'R1830:Cyp27b1'
ID 207252
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 039857-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1830 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126884119-126888875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126884952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 72 (Y72H)
Ref Sequence ENSEMBL: ENSMUSP00000130005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006915] [ENSMUST00000120542] [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: ENSMUST00000120542
SMART Domains Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
Pfam:Methyltransf_4 29 191 3.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139486
SMART Domains Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732

DomainStartEndE-ValueType
PDB:3CKK|A 24 85 3e-34 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000165764
AA Change: Y72H

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130005
Gene: ENSMUSG00000006724
AA Change: Y72H

DomainStartEndE-ValueType
Pfam:p450 40 504 7.1e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171868
Predicted Effect silent
Transcript: ENSMUST00000172069
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.4%
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 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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,350 (GRCm39) S738P probably benign Het
Abi3bp C A 16: 56,408,348 (GRCm39) P261Q probably damaging Het
Adam19 A G 11: 46,018,105 (GRCm39) N389S probably damaging Het
Adgrv1 A T 13: 81,637,196 (GRCm39) V3415D possibly damaging Het
Ankrd33 A T 15: 101,017,432 (GRCm39) I282F probably damaging Het
Arhgap39 C T 15: 76,619,383 (GRCm39) V734M probably damaging Het
Arsg T C 11: 109,454,100 (GRCm39) probably null Het
Atp8b4 C T 2: 126,245,301 (GRCm39) G283R probably benign Het
B3galnt2 T G 13: 14,166,119 (GRCm39) L338* probably null Het
Cdc14a A T 3: 116,216,296 (GRCm39) Y1* probably null Het
Ceacam16 T C 7: 19,592,803 (GRCm39) E35G possibly damaging Het
Cfap46 T A 7: 139,220,323 (GRCm39) D1244V possibly damaging Het
Chordc1 T C 9: 18,223,274 (GRCm39) Y245H probably damaging Het
Col6a6 C A 9: 105,579,469 (GRCm39) V1919F probably damaging Het
Colgalt1 T C 8: 72,075,781 (GRCm39) V476A probably damaging Het
Cped1 T C 6: 22,237,727 (GRCm39) C948R probably damaging Het
Cyfip2 T C 11: 46,089,846 (GRCm39) D1189G probably damaging Het
Dagla A G 19: 10,248,378 (GRCm39) M94T probably benign Het
Dip2a A G 10: 76,153,797 (GRCm39) S178P probably damaging Het
Dlec1 T C 9: 118,967,858 (GRCm39) V1220A probably benign Het
Dpysl2 T C 14: 67,105,840 (GRCm39) probably benign Het
E2f6 T C 12: 16,868,884 (GRCm39) V69A probably benign Het
Fat3 T C 9: 15,826,636 (GRCm39) T4439A probably benign Het
Fn1 T C 1: 71,663,418 (GRCm39) I1023M probably damaging Het
Gabrr2 G A 4: 33,077,481 (GRCm39) V83M probably damaging Het
Gfral T C 9: 76,100,485 (GRCm39) N318D probably benign Het
Gm5611 A T 9: 16,942,073 (GRCm39) noncoding transcript Het
Gpat3 A T 5: 101,041,046 (GRCm39) M369L probably benign Het
Grik5 T C 7: 24,745,726 (GRCm39) D449G possibly damaging Het
Gucy2g T A 19: 55,211,362 (GRCm39) T623S possibly damaging Het
H2-T22 T C 17: 36,352,434 (GRCm39) T164A probably benign Het
Herc1 T A 9: 66,404,881 (GRCm39) C4484S possibly damaging Het
Hira T C 16: 18,766,164 (GRCm39) S659P probably damaging Het
Hoxa7 T C 6: 52,194,307 (GRCm39) T27A possibly damaging Het
Hoxd1 T C 2: 74,593,866 (GRCm39) S141P probably damaging Het
Kank1 C A 19: 25,388,396 (GRCm39) Q690K probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kifbp T C 10: 62,395,106 (GRCm39) Y512C probably damaging Het
Lepr A C 4: 101,592,874 (GRCm39) Y163S probably damaging Het
Leprotl1 T C 8: 34,607,922 (GRCm39) I29V probably benign Het
Lrriq1 T G 10: 102,997,620 (GRCm39) T1332P probably benign Het
Mrps15 A G 4: 125,949,200 (GRCm39) K223E probably damaging Het
Mrps7 T A 11: 115,497,811 (GRCm39) N225K probably benign Het
Nav3 T A 10: 109,659,184 (GRCm39) D811V probably damaging Het
Ndst3 T A 3: 123,342,587 (GRCm39) R741S probably damaging Het
Nos3 T C 5: 24,575,131 (GRCm39) Y356H probably damaging Het
Nxpe3 A G 16: 55,686,444 (GRCm39) V188A probably damaging Het
Or13n4 T C 7: 106,423,317 (GRCm39) R139G probably benign Het
Or5p50 T A 7: 107,422,578 (GRCm39) I33F probably benign Het
Or8j3b T C 2: 86,205,487 (GRCm39) K90E possibly damaging Het
Pdia4 A T 6: 47,773,695 (GRCm39) C551* probably null Het
Pex13 A G 11: 23,605,513 (GRCm39) F239S probably damaging Het
Pigq A G 17: 26,153,980 (GRCm39) M273T probably benign Het
Plppr2 C T 9: 21,859,047 (GRCm39) P388L probably damaging Het
Polr3b C T 10: 84,528,786 (GRCm39) Q737* probably null Het
Ppfibp1 T C 6: 146,923,757 (GRCm39) probably null Het
Ppfibp2 C A 7: 107,236,504 (GRCm39) D17E probably damaging Het
Pramel34 A T 5: 93,785,545 (GRCm39) I245K probably benign Het
Prr35 T C 17: 26,165,691 (GRCm39) D532G possibly damaging Het
Ptpn13 A G 5: 103,691,325 (GRCm39) D1064G probably benign Het
Qtrt2 A T 16: 43,692,018 (GRCm39) S168T probably damaging Het
Rbp3 T C 14: 33,676,601 (GRCm39) V183A probably benign Het
Shprh T C 10: 11,062,655 (GRCm39) probably null Het
Slc39a10 T C 1: 46,875,230 (GRCm39) H24R probably damaging Het
Slc7a13 A T 4: 19,819,046 (GRCm39) H82L probably benign Het
Sptbn2 A G 19: 4,782,569 (GRCm39) I502V probably benign Het
Syne2 C T 12: 76,156,636 (GRCm39) R6811C probably damaging Het
Syt12 A G 19: 4,506,911 (GRCm39) V78A probably benign Het
Tbck T A 3: 132,543,772 (GRCm39) D874E probably benign Het
Tesc A T 5: 118,184,394 (GRCm39) I25L probably damaging Het
Thoc5 T G 11: 4,864,608 (GRCm39) D351E probably benign Het
Tor1aip1 A T 1: 155,883,308 (GRCm39) M180K probably damaging Het
Trps1 T C 15: 50,524,532 (GRCm39) S842G probably damaging Het
Unc79 A T 12: 103,100,737 (GRCm39) T1858S probably damaging Het
Vmn1r193 T C 13: 22,403,561 (GRCm39) T144A probably benign Het
Vwa8 T C 14: 79,318,576 (GRCm39) F1046S probably benign Het
Wdr26 A T 1: 181,019,340 (GRCm39) W346R probably damaging Het
Zfp740 T A 15: 102,116,336 (GRCm39) V22E probably damaging Het
Zw10 C A 9: 48,981,041 (GRCm39) S480R 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
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
R4306:Cyp27b1 UTSW 10 126,886,957 (GRCm39) missense probably benign 0.21
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'- CAGTTAGGAGAAGAGCCCTG -3'
(R):5'- CGTTAGCAATCCGCAAGCAC -3'

Sequencing Primer
(F):5'- CTCTCAAACTTTCATGGGATGG -3'
(R):5'- AATCCGCAAGCACGCTGG -3'
Posted On 2014-06-23