Incidental Mutation 'IGL02813:Vdr'
ID360674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vdr
Ensembl Gene ENSMUSG00000022479
Gene Namevitamin D (1,25-dihydroxyvitamin D3) receptor
SynonymsNr1i1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02813
Quality Score
Status
Chromosome15
Chromosomal Location97854425-97910630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97869681 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 143 (Y143H)
Ref Sequence ENSEMBL: ENSMUSP00000023119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023119]
Predicted Effect probably benign
Transcript: ENSMUST00000023119
AA Change: Y143H

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023119
Gene: ENSMUSG00000022479
AA Change: Y143H

DomainStartEndE-ValueType
ZnF_C4 21 92 1.4e-34 SMART
low complexity region 102 114 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
HOLI 227 389 3.54e-36 SMART
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 the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,146,591 Q660K possibly damaging Het
Arhgap5 A C 12: 52,516,965 T240P probably benign Het
Arhgef7 C T 8: 11,800,767 probably benign Het
Cttnbp2 C A 6: 18,367,538 V1594F possibly damaging Het
Cyp2a22 G T 7: 26,936,434 Q235K probably benign Het
E330009J07Rik C T 6: 40,418,539 V212I probably benign Het
Ecm1 G A 3: 95,736,786 P169S probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Ern1 T C 11: 106,423,425 D183G probably damaging Het
Gpat2 T C 2: 127,434,455 V635A possibly damaging Het
Gria1 A G 11: 57,283,584 N564S probably damaging Het
Grtp1 A C 8: 13,186,945 I173S possibly damaging Het
Hsd17b4 A G 18: 50,128,348 probably benign Het
Lrp1b T C 2: 40,679,217 probably null Het
Mark4 A T 7: 19,447,256 probably null Het
Mphosph9 T C 5: 124,315,628 D207G probably benign Het
Mrgprd A G 7: 145,321,514 M41V probably benign Het
Myo1g T C 11: 6,518,743 *66W probably null Het
Neto2 C A 8: 85,690,886 D30Y probably benign Het
Nlrp6 A T 7: 140,923,420 I450F possibly damaging Het
Nup155 T A 15: 8,130,121 probably benign Het
Olfr1205 A G 2: 88,831,151 I11M probably benign Het
Pcdhb10 T G 18: 37,413,762 S630R possibly damaging Het
Rwdd4a T C 8: 47,537,361 probably null Het
Slc12a7 T A 13: 73,813,676 probably benign Het
Slc22a20 C T 19: 5,984,858 V192I probably benign Het
Slc9a2 T A 1: 40,742,669 S353T probably damaging Het
Srgap3 A G 6: 112,731,480 F753L probably damaging Het
Tcea1 C T 1: 4,886,756 T93I probably benign Het
Tctex1d1 A G 4: 102,992,572 N64S probably damaging Het
Tecpr2 A T 12: 110,933,192 S665C probably damaging Het
Tor4a C A 2: 25,194,749 E381* probably null Het
Vmn2r91 A C 17: 18,136,086 T672P possibly damaging Het
Wdr41 A G 13: 94,995,245 probably null Het
Other mutations in Vdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Vdr APN 15 97884854 missense probably damaging 1.00
yangshuo UTSW 15 97859121 missense probably damaging 1.00
R0400:Vdr UTSW 15 97869351 missense probably benign 0.00
R1102:Vdr UTSW 15 97859121 missense probably damaging 1.00
R1172:Vdr UTSW 15 97869333 missense probably benign 0.05
R1173:Vdr UTSW 15 97869333 missense probably benign 0.05
R1268:Vdr UTSW 15 97857475 missense probably benign 0.39
R1705:Vdr UTSW 15 97867171 missense probably damaging 1.00
R2879:Vdr UTSW 15 97859127 missense probably benign 0.01
R3030:Vdr UTSW 15 97857563 missense probably benign 0.00
R4695:Vdr UTSW 15 97858920 splice site probably null
R5074:Vdr UTSW 15 97857578 missense probably benign 0.35
R5710:Vdr UTSW 15 97859127 missense probably damaging 1.00
R5710:Vdr UTSW 15 97867208 missense probably benign 0.02
R5845:Vdr UTSW 15 97869766 missense possibly damaging 0.46
R5982:Vdr UTSW 15 97857596 missense probably benign 0.37
R6776:Vdr UTSW 15 97869828 missense probably damaging 1.00
R6865:Vdr UTSW 15 97857505 missense probably damaging 1.00
R7870:Vdr UTSW 15 97884890 missense possibly damaging 0.59
R7953:Vdr UTSW 15 97884890 missense possibly damaging 0.59
X0023:Vdr UTSW 15 97869818 missense probably damaging 1.00
Posted On2015-12-18