Mutagenetix > Incidental Mutation

Incidental Mutation 'R1172:Vdr'

99621

Institutional Source

Beutler Lab

Gene Symbol

Vdr

Ensembl Gene

ENSMUSG00000022479

Gene Name

vitamin D (1,25-dihydroxyvitamin D3) receptor

Synonyms

Nr1i1

MMRRC Submission

039245-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1172 (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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam7	T	G	14: 68,752,370 (GRCm39)	K371N	probably damaging	Het
Adgrv1	A	T	13: 81,705,182 (GRCm39)	S1543T	probably damaging	Het
Agbl4	A	T	4: 111,513,515 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,389,575 (GRCm39)	I1707N	probably damaging	Het
Atp10a	T	C	7: 58,453,514 (GRCm39)	V864A	probably benign	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bst1	A	G	5: 43,982,750 (GRCm39)		probably null	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Ccdc28b	T	C	4: 129,514,682 (GRCm39)		probably benign	Het
Cmas	G	T	6: 142,702,604 (GRCm39)	G36C	probably benign	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Epc1	A	C	18: 6,490,525 (GRCm39)	Y31D	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxl13	A	T	5: 21,825,602 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,697,425 (GRCm39)	D642G	possibly damaging	Het
Fmnl2	A	T	2: 52,962,286 (GRCm39)	N257I	probably damaging	Het
Fry	G	A	5: 150,404,959 (GRCm39)	W793*	probably null	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm10801	C	T	2: 98,494,252 (GRCm39)		probably benign	Het
Gm21718	T	C	14: 51,553,348 (GRCm39)		noncoding transcript	Het
Gpld1	A	G	13: 25,141,549 (GRCm39)		probably null	Het
Gtf3c2	A	T	5: 31,325,419 (GRCm39)	Y500N	probably damaging	Het
Hbs1l	A	G	10: 21,180,537 (GRCm39)	D73G	probably damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Lamc2	A	T	1: 153,042,033 (GRCm39)	S34T	probably damaging	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Lrrc19	A	T	4: 94,526,626 (GRCm39)	Y310*	probably null	Het
Map3k5	G	A	10: 19,932,394 (GRCm39)		probably benign	Het
Map7	G	A	10: 20,121,045 (GRCm39)	E92K	probably damaging	Het
Mettl24	G	A	10: 40,613,704 (GRCm39)	A148T	probably benign	Het
Mosmo	A	G	7: 120,329,745 (GRCm39)	Y122C	probably benign	Het
Ncr1	T	A	7: 4,341,120 (GRCm39)	I37N	probably benign	Het
Nkx3-1	T	C	14: 69,429,434 (GRCm39)	S151P	probably damaging	Het
Npm2	T	A	14: 70,889,661 (GRCm39)	K54*	probably null	Het
Npr1	T	A	3: 90,368,689 (GRCm39)	D457V	probably benign	Het
Nudt21	T	C	8: 94,757,757 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Pik3r4	G	T	9: 105,540,373 (GRCm39)	G754C	probably damaging	Het
Rftn2	A	G	1: 55,250,376 (GRCm39)	V123A	probably damaging	Het
Rpa1	A	T	11: 75,203,219 (GRCm39)	V392D	probably damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Slc45a4	C	T	15: 73,477,278 (GRCm39)		probably benign	Het
Syndig1l	T	A	12: 84,725,942 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,389,752 (GRCm39)	R257*	probably null	Het
Tenm4	A	T	7: 96,497,251 (GRCm39)	E1179V	probably damaging	Het
Txlnb	A	G	10: 17,718,504 (GRCm39)	N445S	probably benign	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Vmn2r87	T	C	10: 130,313,453 (GRCm39)	T438A	probably benign	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Ywhaq	T	C	12: 21,445,024 (GRCm39)	N207S	probably benign	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zfp981	G	A	4: 146,622,221 (GRCm39)	S382N	probably benign	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
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

Predicted Primers

Posted On

2014-01-15