Incidental Mutation 'IGL00336:Vdr'
ID 4044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vdr
Ensembl Gene ENSMUSG00000022479
Gene Name vitamin D (1,25-dihydroxyvitamin D3) receptor
Synonyms Nr1i1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00336
Quality Score
Status
Chromosome 15
Chromosomal Location 97752308-97806177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97782735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 29 (D29V)
Ref Sequence ENSEMBL: ENSMUSP00000134584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023119] [ENSMUST00000126568] [ENSMUST00000173104] [ENSMUST00000173611] [ENSMUST00000174633]
AlphaFold P48281
Predicted Effect probably damaging
Transcript: ENSMUST00000023119
AA Change: D29V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023119
Gene: ENSMUSG00000022479
AA Change: D29V

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
Predicted Effect probably damaging
Transcript: ENSMUST00000126568
AA Change: D29V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116842
Gene: ENSMUSG00000022479
AA Change: D29V

DomainStartEndE-ValueType
ZnF_C4 21 74 1.54e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173104
AA Change: D29V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134584
Gene: ENSMUSG00000022479
AA Change: D29V

DomainStartEndE-ValueType
ZnF_C4 21 51 3.8e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173611
Predicted Effect probably benign
Transcript: ENSMUST00000174633
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,366 (GRCm39) Y417C probably damaging Het
Adam28 T A 14: 68,859,569 (GRCm39) H548L possibly damaging Het
Agbl3 A T 6: 34,823,771 (GRCm39) D812V probably damaging Het
Aopep A T 13: 63,163,237 (GRCm39) D86V possibly damaging Het
Aox1 T A 1: 58,098,203 (GRCm39) L305Q probably damaging Het
Arhgef38 A G 3: 132,837,812 (GRCm39) V706A probably benign Het
Arl15 A G 13: 114,291,288 (GRCm39) I171V probably benign Het
Cacna1s C A 1: 136,012,011 (GRCm39) Y237* probably null Het
Ccnt1 T C 15: 98,462,990 (GRCm39) T61A possibly damaging Het
Col25a1 T A 3: 129,975,433 (GRCm39) probably benign Het
Col4a1 T A 8: 11,290,077 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,970,455 (GRCm39) E130G possibly damaging Het
Dnah7b G A 1: 46,181,309 (GRCm39) M1065I probably benign Het
Ephb2 T G 4: 136,384,795 (GRCm39) K872T probably damaging Het
Fga G A 3: 82,938,981 (GRCm39) G452D probably damaging Het
Flrt1 T A 19: 7,074,277 (GRCm39) N90I probably damaging Het
Fut10 T A 8: 31,685,319 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr137b T C 13: 13,549,000 (GRCm39) probably benign Het
Gprc5d G A 6: 135,093,488 (GRCm39) Q140* probably null Het
Ifi27l2b T C 12: 103,417,476 (GRCm39) K237R unknown Het
Ipo8 A T 6: 148,684,284 (GRCm39) M836K possibly damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Lama1 A T 17: 68,120,943 (GRCm39) H2693L probably benign Het
Lrrc23 A G 6: 124,755,889 (GRCm39) W40R probably damaging Het
Minar1 T C 9: 89,485,196 (GRCm39) D67G probably damaging Het
Morn2 C A 17: 80,602,933 (GRCm39) probably benign Het
Ms4a6b T A 19: 11,506,854 (GRCm39) N214K possibly damaging Het
Nags A T 11: 102,039,892 (GRCm39) S527C probably damaging Het
Ndst1 C T 18: 60,841,028 (GRCm39) G218D probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or5b94 T A 19: 12,651,924 (GRCm39) Y118* probably null Het
Or8h7 C T 2: 86,720,589 (GRCm39) C310Y probably benign Het
Oxa1l G T 14: 54,600,802 (GRCm39) G92* probably null Het
Parp16 A T 9: 65,137,245 (GRCm39) E157V probably damaging Het
Pcdh17 A T 14: 84,684,984 (GRCm39) I484F probably damaging Het
Pex16 A G 2: 92,209,580 (GRCm39) R263G probably benign Het
Pkd1l3 G A 8: 110,356,869 (GRCm39) E765K possibly damaging Het
Plce1 T C 19: 38,640,350 (GRCm39) V532A probably damaging Het
Polq A G 16: 36,885,609 (GRCm39) probably benign Het
Pramel5 T C 4: 143,998,191 (GRCm39) T351A probably damaging Het
Prokr1 A T 6: 87,565,593 (GRCm39) I84N probably damaging Het
Prss30 A T 17: 24,192,695 (GRCm39) S162T probably benign Het
Ranbp2 A G 10: 58,287,806 (GRCm39) K25E probably damaging Het
Rapsn A G 2: 90,866,205 (GRCm39) T22A probably damaging Het
Rhoj G T 12: 75,355,680 (GRCm39) G9V probably damaging Het
Rnf213 A G 11: 119,340,169 (GRCm39) R3467G probably benign Het
Rreb1 C A 13: 38,113,622 (GRCm39) S327* probably null Het
Scn5a G A 9: 119,315,290 (GRCm39) P1806L probably damaging Het
Sema6a C A 18: 47,423,042 (GRCm39) probably null Het
Stag3 G A 5: 138,295,921 (GRCm39) E416K probably benign Het
Stpg1 T A 4: 135,256,856 (GRCm39) S216T possibly damaging Het
Tfeb C A 17: 48,102,589 (GRCm39) N426K probably benign Het
Trp53bp1 G T 2: 121,087,060 (GRCm39) Q199K possibly damaging Het
Ubr4 A G 4: 139,155,877 (GRCm39) D2234G probably damaging Het
Ush1c T G 7: 45,846,194 (GRCm39) Q866P probably benign Het
Vps13c T C 9: 67,853,224 (GRCm39) V2439A probably benign Het
Xirp2 T C 2: 67,342,942 (GRCm39) S1728P possibly damaging Het
Zfp9 A G 6: 118,441,436 (GRCm39) S409P probably damaging Het
Other mutations in Vdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:Vdr APN 15 97,767,562 (GRCm39) missense probably benign 0.45
leftist UTSW 15 97,765,052 (GRCm39) missense probably damaging 1.00
yangshuo UTSW 15 97,757,002 (GRCm39) missense probably damaging 1.00
R0400:Vdr UTSW 15 97,767,232 (GRCm39) missense probably benign 0.00
R1102:Vdr UTSW 15 97,757,002 (GRCm39) missense probably damaging 1.00
R1172:Vdr UTSW 15 97,767,214 (GRCm39) missense probably benign 0.05
R1173:Vdr UTSW 15 97,767,214 (GRCm39) missense probably benign 0.05
R1268:Vdr UTSW 15 97,755,356 (GRCm39) missense probably benign 0.39
R1705:Vdr UTSW 15 97,765,052 (GRCm39) missense probably damaging 1.00
R2879:Vdr UTSW 15 97,757,008 (GRCm39) missense probably benign 0.01
R3030:Vdr UTSW 15 97,755,444 (GRCm39) missense probably benign 0.00
R4695:Vdr UTSW 15 97,756,801 (GRCm39) splice site probably null
R5074:Vdr UTSW 15 97,755,459 (GRCm39) missense probably benign 0.35
R5710:Vdr UTSW 15 97,765,089 (GRCm39) missense probably benign 0.02
R5710:Vdr UTSW 15 97,757,008 (GRCm39) missense probably damaging 1.00
R5845:Vdr UTSW 15 97,767,647 (GRCm39) missense possibly damaging 0.46
R5982:Vdr UTSW 15 97,755,477 (GRCm39) missense probably benign 0.37
R6776:Vdr UTSW 15 97,767,709 (GRCm39) missense probably damaging 1.00
R6865:Vdr UTSW 15 97,755,386 (GRCm39) missense probably damaging 1.00
R7870:Vdr UTSW 15 97,782,771 (GRCm39) missense possibly damaging 0.59
R9036:Vdr UTSW 15 97,765,089 (GRCm39) missense probably benign 0.03
R9110:Vdr UTSW 15 97,782,753 (GRCm39) missense probably damaging 0.98
R9114:Vdr UTSW 15 97,765,136 (GRCm39) missense probably benign
R9214:Vdr UTSW 15 97,767,600 (GRCm39) missense probably benign 0.01
R9381:Vdr UTSW 15 97,755,333 (GRCm39) missense probably damaging 1.00
R9684:Vdr UTSW 15 97,767,285 (GRCm39) missense probably benign
X0023:Vdr UTSW 15 97,767,699 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20