Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Nr1d2'

406008

Institutional Source

Beutler Lab

Gene Symbol

Nr1d2

Ensembl Gene

ENSMUSG00000021775

Gene Name

nuclear receptor subfamily 1, group D, member 2

Synonyms

Rev-erb beta, RVR

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18204054-18239127 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18215197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 272 (S272P)

Ref Sequence

ENSEMBL: ENSMUSP00000088031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090543] [ENSMUST00000225491]

AlphaFold

Q60674

Predicted Effect

probably benign
Transcript: ENSMUST00000090543
AA Change: S272P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
AA Change: S272P

Domain	Start	End	E-Value	Type
low complexity region	13	47	N/A	INTRINSIC
ZnF_C4	100	172	4.2e-38	SMART
Blast:HOLI	185	241	2e-13	BLAST
HOLI	404	562	3.71e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225308

Predicted Effect

probably benign
Transcript: ENSMUST00000225491

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

MGI Phenotype

FUNCTION: This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no gross abnormalities. Mice homozygous for a different knock-out allele display an increased anxiety-related response. A subset of mice homozygous for a third knock-out allele show neonatal lethality, atrioventricular septal defects (AVSDs) and related cardiovascular malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	probably benign	Het

Other mutations in Nr1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Nr1d2	APN	14	18215502	intron	probably benign
IGL00897:Nr1d2	APN	14	18214993	missense	probably benign	0.03
IGL02425:Nr1d2	APN	14	18222011	missense	probably benign
IGL03039:Nr1d2	APN	14	18215184	missense	probably benign	0.01
IGL03169:Nr1d2	APN	14	18216703	missense	probably damaging	1.00
IGL03388:Nr1d2	APN	14	18215403	missense	probably benign	0.02
R0173:Nr1d2	UTSW	14	18215502	intron	probably benign
R0242:Nr1d2	UTSW	14	18211933	missense	possibly damaging	0.80
R0242:Nr1d2	UTSW	14	18211933	missense	possibly damaging	0.80
R0674:Nr1d2	UTSW	14	18215086	missense	probably benign	0.00
R1240:Nr1d2	UTSW	14	18211891	missense	probably benign	0.04
R3115:Nr1d2	UTSW	14	18215504	splice site	probably null
R3738:Nr1d2	UTSW	14	18211804	missense	possibly damaging	0.74
R4165:Nr1d2	UTSW	14	18215446	missense	probably benign	0.05
R5353:Nr1d2	UTSW	14	18222125	missense	probably benign	0.05
R5384:Nr1d2	UTSW	14	18211922	missense	probably benign	0.08
R5486:Nr1d2	UTSW	14	18206860	missense	possibly damaging	0.65
R5827:Nr1d2	UTSW	14	18222248	missense	possibly damaging	0.88
R7873:Nr1d2	UTSW	14	18216656	nonsense	probably null
R8268:Nr1d2	UTSW	14	18216659	missense	probably damaging	1.00
R8411:Nr1d2	UTSW	14	18215031	missense	probably damaging	0.98
R8429:Nr1d2	UTSW	14	18215409	missense	probably benign	0.10
R8696:Nr1d2	UTSW	14	18216661	missense	probably damaging	1.00
R8912:Nr1d2	UTSW	14	18220030	missense	probably damaging	1.00
X0067:Nr1d2	UTSW	14	18211823	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- GCACTGGAGAAGTTCATACAGTG -3'
(R):5'- CAGAACAGCATGATCAGTCAGC -3'

Sequencing Primer
(F):5'- TTTGCAATACAAACGGCATGGC -3'
(R):5'- GTCAGCACTACCAGCTCAGG -3'

Posted On

2016-07-22