Incidental Mutation 'IGL01515:Cyp2r1'
ID89362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2r1
Ensembl Gene ENSMUSG00000030670
Gene Namecytochrome P450, family 2, subfamily r, polypeptide 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01515
Quality Score
Status
Chromosome7
Chromosomal Location114549682-114562972 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 114552712 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032908] [ENSMUST00000119712] [ENSMUST00000128587] [ENSMUST00000138712] [ENSMUST00000147428] [ENSMUST00000211506]
Predicted Effect probably benign
Transcript: ENSMUST00000032908
SMART Domains Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:p450 40 498 7e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119712
SMART Domains Protein: ENSMUSP00000112818
Gene: ENSMUSG00000030670

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:p450 40 124 2.3e-15 PFAM
Pfam:p450 115 287 1.8e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128587
SMART Domains Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670

DomainStartEndE-ValueType
Pfam:p450 1 260 5.7e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133484
Predicted Effect probably benign
Transcript: ENSMUST00000138712
SMART Domains Protein: ENSMUSP00000123556
Gene: ENSMUSG00000030670

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
SCOP:d1dt6a_ 40 76 5e-7 SMART
PDB:3CZH|B 51 76 3e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000147428
SMART Domains Protein: ENSMUSP00000119605
Gene: ENSMUSG00000030670

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
SCOP:d1dt6a_ 40 76 5e-7 SMART
PDB:3CZH|B 51 76 3e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000211506
Coding Region Coverage
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. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit more than a 50% reduction in serum 25-hydroxyvitamin D3 levels but remain healthy and show normal serum 1alpha,25-dihydroxyvitamin D3 levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,163,086 V588E probably damaging Het
Ar C T X: 98,251,847 probably benign Het
B4galt7 C A 13: 55,609,222 Q243K probably damaging Het
Cdhr2 A T 13: 54,718,238 T284S probably benign Het
Chdh G A 14: 30,036,886 R596H probably damaging Het
Cyp3a44 A T 5: 145,799,418 L74* probably null Het
Dnah8 A T 17: 30,648,485 I304L probably benign Het
Fam171b G A 2: 83,880,233 E750K probably damaging Het
Fbxo38 T A 18: 62,518,571 E554D probably benign Het
Fnd3c2 T C X: 106,238,487 K721E probably damaging Het
Gpam A G 19: 55,087,451 L243P probably damaging Het
Heph A G X: 96,558,100 E1032G probably damaging Het
Igf1r T A 7: 68,207,452 V1054E probably damaging Het
Inpp4b A G 8: 81,952,711 S331G possibly damaging Het
Ints11 A T 4: 155,875,232 I99F probably damaging Het
Jak3 G A 8: 71,680,562 probably null Het
Ky A G 9: 102,542,105 Y437C probably benign Het
Lin28a A G 4: 134,018,709 probably null Het
Macc1 A C 12: 119,450,371 K761Q probably damaging Het
Myom2 A G 8: 15,122,655 D1194G probably benign Het
Naga C A 15: 82,330,159 V384F probably benign Het
Necab3 A T 2: 154,554,691 S72T probably damaging Het
Olfr1197 G A 2: 88,729,008 T197I probably benign Het
Olfr641 A G 7: 104,039,976 Y60C probably benign Het
Ptpn13 C T 5: 103,556,113 S1337L probably benign Het
Slitrk2 C T X: 66,655,642 P580S probably damaging Het
Tpsg1 A G 17: 25,373,962 D67G probably damaging Het
Tsc22d1 T C 14: 76,505,299 probably null Het
Other mutations in Cyp2r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Cyp2r1 APN 7 114551826 missense probably benign 0.00
R0178:Cyp2r1 UTSW 7 114550408 missense probably damaging 1.00
R0518:Cyp2r1 UTSW 7 114552900 missense probably benign 0.01
R0686:Cyp2r1 UTSW 7 114552011 missense possibly damaging 0.52
R1772:Cyp2r1 UTSW 7 114553216 missense probably damaging 0.99
R2044:Cyp2r1 UTSW 7 114550405 missense probably damaging 0.98
R3785:Cyp2r1 UTSW 7 114554696 missense possibly damaging 0.69
R6248:Cyp2r1 UTSW 7 114562731 critical splice donor site probably null
R6995:Cyp2r1 UTSW 7 114553081 missense probably damaging 1.00
R7048:Cyp2r1 UTSW 7 114552736 missense probably damaging 1.00
R7063:Cyp2r1 UTSW 7 114552949 missense probably damaging 1.00
R7538:Cyp2r1 UTSW 7 114562767 missense probably damaging 1.00
R7549:Cyp2r1 UTSW 7 114554644 missense possibly damaging 0.58
R7680:Cyp2r1 UTSW 7 114552819 missense probably damaging 1.00
R7882:Cyp2r1 UTSW 7 114554589 critical splice donor site probably null
R7965:Cyp2r1 UTSW 7 114554589 critical splice donor site probably null
R8054:Cyp2r1 UTSW 7 114552084 critical splice acceptor site probably null
Z1088:Cyp2r1 UTSW 7 114551974 missense probably damaging 1.00
Z1177:Cyp2r1 UTSW 7 114553339 nonsense probably null
Posted On2013-12-03