Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Vdr'

728765

Institutional Source

Beutler Lab

Gene Symbol

Vdr

Ensembl Gene

ENSMUSG00000022479

Gene Name

vitamin D (1,25-dihydroxyvitamin D3) receptor

Synonyms

Nr1i1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97752308-97806177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97767285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 161 (V161A)

Ref Sequence

ENSEMBL: ENSMUSP00000023119 (fasta)

Gene Model

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

AlphaFold

P48281

Predicted Effect

probably benign
Transcript: ENSMUST00000023119
AA Change: V161A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023119
Gene: ENSMUSG00000022479
AA Change: V161A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	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
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
X0023:Vdr	UTSW	15	97,767,699 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGGAGATTTCCATCACTTCC -3'
(R):5'- TGTGGCTTGAACCAGGCTAG -3'

Sequencing Primer
(F):5'- GGAGATTTCCATCACTTCCCCTATAG -3'
(R):5'- ATCAGGTATAGCCCAGGCACG -3'

Posted On

2022-10-06