Incidental Mutation 'R8326:Cyp2r1'
ID 644108
Institutional Source Beutler Lab
Gene Symbol Cyp2r1
Ensembl Gene ENSMUSG00000030670
Gene Name cytochrome P450, family 2, subfamily r, polypeptide 1
Synonyms
MMRRC Submission 067726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8326 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 114149358-114162283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114152405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 184 (T184I)
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: T184I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032908
Gene: ENSMUSG00000030670
AA Change: T184I

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: T109I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121924
Gene: ENSMUSG00000030670
AA Change: T109I

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 benign
Transcript: ENSMUST00000211506
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,533,190 (GRCm39) T35A Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Akt3 T C 1: 176,877,611 (GRCm39) N386D possibly damaging Het
Aox1 A T 1: 58,335,046 (GRCm39) H282L probably benign Het
Asb7 G T 7: 66,309,675 (GRCm39) N180K possibly damaging Het
Cdh23 T C 10: 60,274,591 (GRCm39) S500G possibly damaging Het
Cubn C T 2: 13,311,274 (GRCm39) E3084K probably benign Het
Dclk3 A G 9: 111,296,602 (GRCm39) R49G probably damaging Het
Dcp1a C T 14: 30,241,527 (GRCm39) Q446* probably null Het
Dnah9 A G 11: 66,008,452 (GRCm39) I791T probably benign Het
Dock10 A T 1: 80,583,892 (GRCm39) V189D possibly damaging Het
Dsg4 A G 18: 20,582,788 (GRCm39) E142G probably benign Het
Dsp A T 13: 38,375,611 (GRCm39) D1132V probably damaging Het
Dync2h1 A G 9: 7,147,771 (GRCm39) M953T probably benign Het
Ecpas G T 4: 58,847,093 (GRCm39) Q490K probably damaging Het
Ero1a T C 14: 45,531,805 (GRCm39) H251R probably damaging Het
Fer1l5 A G 1: 36,415,841 (GRCm39) Y124C probably benign Het
Frmpd2 C A 14: 33,232,992 (GRCm39) P404Q probably damaging Het
Gpr87 G T 3: 59,102,395 (GRCm39) probably benign Het
Gse1 T C 8: 121,305,319 (GRCm39) Y1217H unknown Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Irf9 T A 14: 55,843,210 (GRCm39) D137E probably benign Het
Jup G T 11: 100,272,571 (GRCm39) N280K probably benign Het
Kcna7 T C 7: 45,058,765 (GRCm39) F351L probably damaging Het
Klk13 A T 7: 43,376,136 (GRCm39) R270S probably benign Het
Msh6 C T 17: 88,294,340 (GRCm39) R1032C probably damaging Het
Myo5a T C 9: 75,125,271 (GRCm39) V1855A probably damaging Het
Neb T C 2: 52,111,714 (GRCm39) T138A probably damaging Het
Nfkbie C A 17: 45,870,234 (GRCm39) T193K probably damaging Het
Nlrp4b A G 7: 10,452,471 (GRCm39) K613E probably benign Het
Obox6 T C 7: 15,567,481 (GRCm39) E322G possibly damaging Het
Or51ai2 A G 7: 103,586,809 (GRCm39) D74G probably damaging Het
Or5v1b T G 17: 37,841,470 (GRCm39) S201A probably benign Het
Or8b36 T C 9: 37,938,014 (GRCm39) M304T probably benign Het
Parn A T 16: 13,483,835 (GRCm39) N36K probably benign Het
Ppp6r2 A G 15: 89,164,650 (GRCm39) E618G probably benign Het
Prdm13 A G 4: 21,679,557 (GRCm39) L311P unknown Het
Prkaa2 T C 4: 104,893,495 (GRCm39) T485A possibly damaging Het
Prmt2 G T 10: 76,053,247 (GRCm39) T256K probably benign Het
Rspry1 T C 8: 95,366,217 (GRCm39) Y362H probably damaging Het
Slc16a14 A T 1: 84,890,066 (GRCm39) I413N possibly damaging Het
Slc8a1 T C 17: 81,715,535 (GRCm39) T821A probably damaging Het
Spock2 A T 10: 59,962,777 (GRCm39) K276N probably damaging Het
Synj1 A T 16: 90,785,084 (GRCm39) N257K probably benign Het
Taar7f T C 10: 23,925,811 (GRCm39) L135P possibly damaging Het
Tmem132b T C 5: 125,864,618 (GRCm39) F908S probably damaging Het
Tmem202 A T 9: 59,426,500 (GRCm39) V222D probably benign Het
Trim33 T A 3: 103,218,770 (GRCm39) C302* probably null Het
Tuba4a G A 1: 75,195,265 (GRCm39) S1L Het
Tyrp1 G A 4: 80,768,921 (GRCm39) E472K probably benign Het
V1ra8 A G 6: 90,180,246 (GRCm39) I150V possibly damaging Het
Vmn2r87 A T 10: 130,308,180 (GRCm39) M686K possibly damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging 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
R7680:Cyp2r1 UTSW 7 114,152,054 (GRCm39) missense probably damaging 1.00
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
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'- AGAGGAAATCATAGACCACATCTG -3'
(R):5'- ACTCAATTCCAGATATGGTAGAGG -3'

Sequencing Primer
(F):5'- AGTCTTTGATGTTTCCCAAAAGG -3'
(R):5'- TATGGTAGAGGATGGATTGATCAC -3'
Posted On 2020-09-02