Incidental Mutation 'R7680:Cyp2r1'
ID 592700
Institutional Source Beutler Lab
Gene Symbol Cyp2r1
Ensembl Gene ENSMUSG00000030670
Gene Name cytochrome P450, family 2, subfamily r, polypeptide 1
Synonyms
MMRRC Submission 045746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7680 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 114149358-114162283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114152054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 301 (I301N)
Ref Sequence ENSEMBL: ENSMUSP00000032908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032908] [ENSMUST00000119712] [ENSMUST00000128587] [ENSMUST00000138712] [ENSMUST00000147428] [ENSMUST00000211506]
AlphaFold Q6VVW9
Predicted Effect probably damaging
Transcript: ENSMUST00000032908
AA Change: I301N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: I301N

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 damaging
Transcript: ENSMUST00000128587
AA Change: I226N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670
AA Change: I226N

DomainStartEndE-ValueType
Pfam:p450 1 260 5.7e-47 PFAM
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 damaging
Transcript: ENSMUST00000211506
AA Change: I92N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4036 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,657,958 (GRCm39) D104G possibly damaging Het
Ahi1 G T 10: 20,883,667 (GRCm39) C844F possibly damaging Het
Bspry T C 4: 62,414,828 (GRCm39) *474Q probably null Het
Car9 T A 4: 43,507,250 (GRCm39) D65E probably damaging Het
Ccdc110 T A 8: 46,394,688 (GRCm39) M193K possibly damaging Het
Ccdc166 A G 15: 75,853,056 (GRCm39) S304P possibly damaging Het
Cdcp1 T C 9: 123,012,584 (GRCm39) Q321R probably damaging Het
Cic T C 7: 24,991,856 (GRCm39) V2255A probably damaging Het
Cmc2 A T 8: 117,620,849 (GRCm39) M44K probably damaging Het
Crls1 A G 2: 132,704,258 (GRCm39) T223A probably damaging Het
Ctnna3 A T 10: 64,323,329 (GRCm39) H488L probably benign Het
Dkk3 A T 7: 111,718,570 (GRCm39) L272Q probably damaging Het
Dnah14 A G 1: 181,513,365 (GRCm39) N1906S probably benign Het
Gm13271 T C 4: 88,673,367 (GRCm39) V88A probably benign Het
Gphn C A 12: 78,459,148 (GRCm39) L79I probably benign Het
Gpr15 A T 16: 58,538,328 (GRCm39) W254R probably damaging Het
H2-M2 T C 17: 37,793,916 (GRCm39) R103G possibly damaging Het
Hcn4 T C 9: 58,767,954 (GRCm39) S1172P probably benign Het
Htr1a A G 13: 105,581,539 (GRCm39) S260G probably benign Het
Iftap T C 2: 101,440,901 (GRCm39) E34G probably damaging Het
Kif21b G T 1: 136,075,607 (GRCm39) probably null Het
Lamp1 T C 8: 13,217,812 (GRCm39) Y131H probably benign Het
Lrrc47 A C 4: 154,100,558 (GRCm39) N378T probably benign Het
Manea A T 4: 26,340,649 (GRCm39) H104Q probably damaging Het
Map4k3 A G 17: 80,889,305 (GRCm39) I888T probably benign Het
Mark3 T C 12: 111,613,207 (GRCm39) M557T probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myh6 C A 14: 55,186,190 (GRCm39) C1413F possibly damaging Het
Myorg C A 4: 41,497,978 (GRCm39) D551Y probably damaging Het
Ncr1 T A 7: 4,341,123 (GRCm39) M38K possibly damaging Het
Nid2 A G 14: 19,829,715 (GRCm39) T669A probably damaging Het
Or6e1 T A 14: 54,519,837 (GRCm39) I172F probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekha7 A G 7: 115,763,511 (GRCm39) Y364H probably benign Het
Plxnb1 T A 9: 108,929,571 (GRCm39) Y142* probably null Het
Ptprn T C 1: 75,224,537 (GRCm39) I940V probably benign Het
Rnf213 T C 11: 119,370,382 (GRCm39) V4728A Het
Samd9l A T 6: 3,372,569 (GRCm39) L1564Q probably damaging Het
Samd9l A G 6: 3,376,469 (GRCm39) I264T probably damaging Het
Slc16a7 T C 10: 125,066,805 (GRCm39) D278G probably benign Het
Slc35f2 T A 9: 53,715,396 (GRCm39) V214E probably damaging Het
Slc7a5 A C 8: 122,634,006 (GRCm39) S114A probably damaging Het
St6galnac3 A G 3: 152,911,047 (GRCm39) S305P probably damaging Het
Stat1 G A 1: 52,183,368 (GRCm39) R378Q probably damaging Het
Tnfrsf9 T G 4: 151,014,395 (GRCm39) C31W probably damaging Het
Tnk1 T C 11: 69,747,571 (GRCm39) E61G possibly damaging Het
Tnks1bp1 T A 2: 84,889,585 (GRCm39) D637E probably benign Het
Ttc17 C T 2: 94,196,889 (GRCm39) G486D probably benign Het
Vmn1r30 T A 6: 58,412,284 (GRCm39) R183* probably null Het
Vmn2r78 A G 7: 86,604,149 (GRCm39) T776A probably damaging Het
Wrap73 A G 4: 154,241,079 (GRCm39) E444G probably benign Het
Zc3h13 C T 14: 75,567,955 (GRCm39) R1083C probably damaging Het
Zfp189 A G 4: 49,521,547 (GRCm39) probably benign Het
Other mutations in Cyp2r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Cyp2r1 APN 7 114,151,061 (GRCm39) missense probably benign 0.00
IGL01515:Cyp2r1 APN 7 114,151,947 (GRCm39) splice site probably benign
R0178:Cyp2r1 UTSW 7 114,149,643 (GRCm39) missense probably damaging 1.00
R0518:Cyp2r1 UTSW 7 114,152,135 (GRCm39) missense probably benign 0.01
R0686:Cyp2r1 UTSW 7 114,151,246 (GRCm39) missense possibly damaging 0.52
R1772:Cyp2r1 UTSW 7 114,152,451 (GRCm39) missense probably damaging 0.99
R2044:Cyp2r1 UTSW 7 114,149,640 (GRCm39) missense probably damaging 0.98
R3785:Cyp2r1 UTSW 7 114,153,931 (GRCm39) missense possibly damaging 0.69
R6248:Cyp2r1 UTSW 7 114,161,966 (GRCm39) critical splice donor site probably null
R6995:Cyp2r1 UTSW 7 114,152,316 (GRCm39) missense probably damaging 1.00
R7048:Cyp2r1 UTSW 7 114,151,971 (GRCm39) missense probably damaging 1.00
R7063:Cyp2r1 UTSW 7 114,152,184 (GRCm39) missense probably damaging 1.00
R7538:Cyp2r1 UTSW 7 114,162,002 (GRCm39) missense probably damaging 1.00
R7549:Cyp2r1 UTSW 7 114,153,879 (GRCm39) missense possibly damaging 0.58
R7882:Cyp2r1 UTSW 7 114,153,824 (GRCm39) critical splice donor site probably null
R8054:Cyp2r1 UTSW 7 114,151,319 (GRCm39) critical splice acceptor site probably null
R8116:Cyp2r1 UTSW 7 114,149,590 (GRCm39) missense probably benign
R8326:Cyp2r1 UTSW 7 114,152,405 (GRCm39) missense probably damaging 1.00
R9202:Cyp2r1 UTSW 7 114,152,047 (GRCm39) critical splice acceptor site probably benign
R9481:Cyp2r1 UTSW 7 114,152,369 (GRCm39) missense probably damaging 1.00
R9799:Cyp2r1 UTSW 7 114,151,207 (GRCm39) missense probably benign 0.16
Z1088:Cyp2r1 UTSW 7 114,151,209 (GRCm39) missense probably damaging 1.00
Z1177:Cyp2r1 UTSW 7 114,152,574 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTAAAACTGCTTTATACATGGCC -3'
(R):5'- GCATTTCCATGGATTGGCATC -3'

Sequencing Primer
(F):5'- CTGCTTTATACATGGCCAAAGACTC -3'
(R):5'- ACCTTTTGGGAAACATCAAAGAC -3'
Posted On 2019-11-12