Incidental Mutation 'R6776:Vdr'
ID 531319
Institutional Source Beutler Lab
Gene Symbol Vdr
Ensembl Gene ENSMUSG00000022479
Gene Name vitamin D (1,25-dihydroxyvitamin D3) receptor
Synonyms Nr1i1
MMRRC Submission 044892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 97752308-97806177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97767709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 94 (I94V)
Ref Sequence ENSEMBL: ENSMUSP00000023119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023119]
AlphaFold P48281
Predicted Effect probably damaging
Transcript: ENSMUST00000023119
AA Change: I94V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023119
Gene: ENSMUSG00000022479
AA Change: I94V

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,038,075 (GRCm39) H224R probably benign Het
Anapc10 T C 8: 80,446,374 (GRCm39) F68S probably damaging Het
Arid2 A G 15: 96,268,830 (GRCm39) N981S probably benign Het
Bmerb1 T A 16: 13,804,670 (GRCm39) S6T possibly damaging Het
Cfap73 A G 5: 120,772,276 (GRCm39) F9L probably damaging Het
Chd3 A C 11: 69,245,296 (GRCm39) L1141V probably damaging Het
Daam1 C T 12: 72,036,582 (GRCm39) L1052F possibly damaging Het
Dmxl1 C T 18: 50,027,041 (GRCm39) R2050C probably damaging Het
Dpp10 G A 1: 123,295,385 (GRCm39) Q552* probably null Het
Dysf A G 6: 84,041,876 (GRCm39) D160G possibly damaging Het
Ecrg4 C A 1: 43,781,551 (GRCm39) N144K probably damaging Het
Firrm T C 1: 163,804,318 (GRCm39) I338M probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Ftcd T C 10: 76,425,073 (GRCm39) I518T probably benign Het
Gapdh A G 6: 125,139,236 (GRCm39) S248P probably damaging Het
Gm5592 C G 7: 40,939,153 (GRCm39) P812A probably damaging Het
Grik2 G A 10: 49,232,085 (GRCm39) L482F probably damaging Het
Gzmg C T 14: 56,394,288 (GRCm39) G202D probably damaging Het
Hectd4 G A 5: 121,491,574 (GRCm39) A3671T possibly damaging Het
Hexa G T 9: 59,465,355 (GRCm39) W203C probably damaging Het
Igdcc4 A T 9: 65,042,700 (GRCm39) T1217S probably benign Het
Ipo7 A G 7: 109,646,272 (GRCm39) D557G probably damaging Het
Irx3 T A 8: 92,526,463 (GRCm39) T414S probably benign Het
Jakmip1 G A 5: 37,344,498 (GRCm39) E1313K probably damaging Het
Kbtbd12 T C 6: 88,595,248 (GRCm39) D194G probably damaging Het
Klk6 T C 7: 43,476,298 (GRCm39) L46P probably damaging Het
Krt86 T C 15: 101,374,817 (GRCm39) I329T probably benign Het
Mroh5 A G 15: 73,661,817 (GRCm39) probably null Het
Mtrf1 T C 14: 79,650,521 (GRCm39) V323A probably damaging Het
Oas3 A T 5: 120,896,939 (GRCm39) I894N probably damaging Het
Oplah C T 15: 76,185,053 (GRCm39) V887I possibly damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pcnx1 C T 12: 82,009,496 (GRCm39) A1181V possibly damaging Het
Pkdrej G T 15: 85,701,510 (GRCm39) Y1475* probably null Het
Pla2g5 A G 4: 138,527,964 (GRCm39) S101P probably benign Het
Plekha4 C A 7: 45,184,241 (GRCm39) A76E probably damaging Het
Plk2 T C 13: 110,536,325 (GRCm39) I592T probably benign Het
Ppp2r3c T A 12: 55,345,252 (GRCm39) R79* probably null Het
Ppp2r3d A T 9: 101,090,061 (GRCm39) H87Q probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prrt4 G T 6: 29,176,551 (GRCm39) T258K possibly damaging Het
Rhpn2 T A 7: 35,083,194 (GRCm39) probably null Het
Slc11a1 T A 1: 74,423,244 (GRCm39) I365N probably damaging Het
Slc7a7 C T 14: 54,612,108 (GRCm39) G265D possibly damaging Het
Thsd7a T A 6: 12,555,636 (GRCm39) T83S possibly damaging Het
Tln2 A G 9: 67,170,187 (GRCm39) S1989P probably damaging Het
Tnfaip3 T G 10: 18,881,324 (GRCm39) T321P probably benign Het
Tnrc6b C T 15: 80,808,320 (GRCm39) P1623L possibly damaging Het
Trpa1 T C 1: 14,982,601 (GRCm39) N85S probably benign Het
Trrap C T 5: 144,788,066 (GRCm39) R3544* probably null Het
Ttf2 A T 3: 100,859,869 (GRCm39) V695E probably benign Het
Ttll4 A G 1: 74,720,512 (GRCm39) E509G probably damaging Het
Wdfy3 G T 5: 102,031,911 (GRCm39) Q2304K possibly damaging Het
Zfp663 T C 2: 165,200,935 (GRCm39) Y33C probably damaging Het
Other mutations in Vdr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Vdr APN 15 97,782,735 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGATTCTCCACTAGCCTGG -3'
(R):5'- TCGCTGTAGAAAACCGGGTTG -3'

Sequencing Primer
(F):5'- TAGCCTGGTTCAAGCCACAG -3'
(R):5'- AAAACCGGGTTGTCTCCATG -3'
Posted On 2018-08-29