Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Vdr'

99750

Institutional Source

Beutler Lab

Gene Symbol

Vdr

Ensembl Gene

ENSMUSG00000022479

Gene Name

vitamin D (1,25-dihydroxyvitamin D3) receptor

Synonyms

Nr1i1

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97752308-97806177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97767214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 185 (Y185N)

Ref Sequence

ENSEMBL: ENSMUSP00000023119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023119]

AlphaFold

P48281

Predicted Effect

probably benign
Transcript: ENSMUST00000023119
AA Change: Y185N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023119
Gene: ENSMUSG00000022479
AA Change: Y185N

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Vdr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

Posted On

2014-01-15