Mutagenetix > Incidental Mutation

Incidental Mutation 'R7073:Nr1d1'

549053

Institutional Source

Beutler Lab

Gene Symbol

Nr1d1

Ensembl Gene

ENSMUSG00000020889

Gene Name

nuclear receptor subfamily 1, group D, member 1

Synonyms

A530070C09Rik, rev-erbA(alpha), REV-ERBalpha

MMRRC Submission

045169-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98658758-98666159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98662892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 34 (S34R)

Ref Sequence

ENSEMBL: ENSMUSP00000069505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064187] [ENSMUST00000064941] [ENSMUST00000124072]

AlphaFold

Q3UV55

Predicted Effect

probably benign
Transcript: ENSMUST00000064187

SMART Domains

Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756

Domain	Start	End	E-Value	Type
ZnF_C4	50	123	3.09e-36	SMART
HOLI	220	378	1.43e-31	SMART
low complexity region	461	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000064941
AA Change: S34R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889
AA Change: S34R

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
low complexity region	70	94	N/A	INTRINSIC
ZnF_C4	130	202	5.54e-38	SMART
low complexity region	240	263	N/A	INTRINSIC
PDB:3N00\|A	282	361	2e-21	PDB
HOLI	442	600	4.2e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124072

SMART Domains

Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756

Domain	Start	End	E-Value	Type
ZnF_C4	50	123	3.09e-36	SMART
HOLI	220	378	2.36e-32	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (Arntl). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered circadian behavior and temperature regulation with mild alterations in cytoarchitecture of the cerebellum. Litter size is reduced by half in mutant females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,709,593 (GRCm39)	E1133D	probably damaging	Het
Ankrd13b	A	T	11: 77,363,335 (GRCm39)	D505E	probably benign	Het
Ano1	C	T	7: 144,192,289 (GRCm39)	E361K	probably damaging	Het
Arap3	T	A	18: 38,107,495 (GRCm39)	K1341*	probably null	Het
Arhgef17	A	C	7: 100,579,198 (GRCm39)	Y583*	probably null	Het
Ash1l	G	A	3: 88,892,647 (GRCm39)	E1509K	probably damaging	Het
B430305J03Rik	T	G	3: 61,271,681 (GRCm39)	R21S	unknown	Het
Bbof1	A	G	12: 84,473,609 (GRCm39)	E313G	probably damaging	Het
Catsperb	C	T	12: 101,475,497 (GRCm39)	T347I	probably benign	Het
Ccdc24	G	T	4: 117,729,201 (GRCm39)	A92D	probably damaging	Het
Ccdc63	T	C	5: 122,249,073 (GRCm39)	T419A	probably benign	Het
Ccdc7a	C	T	8: 129,618,866 (GRCm39)	V893I	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,330 (GRCm39)	D537E	probably benign	Het
Cd276	T	C	9: 58,444,615 (GRCm39)	S119G	probably damaging	Het
Cdkn3	T	C	14: 47,004,647 (GRCm39)	Y70H	possibly damaging	Het
Cdo1	G	A	18: 46,861,266 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,581,247 (GRCm39)	F10Y	probably damaging	Het
Cep290	A	T	10: 100,374,865 (GRCm39)	K1370N	possibly damaging	Het
Crb1	T	A	1: 139,176,049 (GRCm39)	I645F	probably damaging	Het
Cul7	T	C	17: 46,969,657 (GRCm39)	W975R	probably damaging	Het
Ddx39b	A	C	17: 35,471,826 (GRCm39)	E324A	probably benign	Het
Diaph1	T	G	18: 38,022,867 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,321,318 (GRCm39)	R3917*	probably null	Het
Dnph1	T	A	17: 46,807,815 (GRCm39)	L27Q	probably damaging	Het
Duox2	A	G	2: 122,119,788 (GRCm39)	F880S	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Enpep	A	T	3: 129,106,319 (GRCm39)	Y302*	probably null	Het
Ergic2	G	T	6: 148,096,707 (GRCm39)	H186Q	probably damaging	Het
Fam83b	T	C	9: 76,453,031 (GRCm39)	D12G	probably benign	Het
Fbxw16	A	T	9: 109,270,123 (GRCm39)	V206D	probably damaging	Het
Fhod1	A	T	8: 106,063,771 (GRCm39)	V278D	unknown	Het
Gba2	G	C	4: 43,573,753 (GRCm39)	Q180E	probably damaging	Het
Grhl3	G	A	4: 135,300,723 (GRCm39)	L5F	probably benign	Het
H2-T15	A	T	17: 36,369,235 (GRCm39)	C7S	unknown	Het
Ifit1bl1	C	T	19: 34,576,667 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,584,230 (GRCm39)	T413A	probably benign	Het
Itga2	A	G	13: 114,996,149 (GRCm39)	F714S	probably damaging	Het
Jmy	A	G	13: 93,577,841 (GRCm39)	S776P	probably benign	Het
Kbtbd8	G	A	6: 95,098,814 (GRCm39)	A108T	probably damaging	Het
Kpna6	G	A	4: 129,548,139 (GRCm39)	A230V	probably damaging	Het
Lrfn1	C	T	7: 28,159,397 (GRCm39)	L439F	possibly damaging	Het
Lrrc1	T	A	9: 77,375,847 (GRCm39)	I147F	probably benign	Het
Lrrc7	C	T	3: 157,832,884 (GRCm39)	G1425R	probably damaging	Het
Madd	T	A	2: 90,992,854 (GRCm39)	I1022F	probably damaging	Het
Map2k2	A	T	10: 80,942,017 (GRCm39)	T13S	probably benign	Het
Mdc1	G	A	17: 36,164,960 (GRCm39)	V1459I	probably benign	Het
Mdh1b	G	A	1: 63,760,719 (GRCm39)	T114M	probably damaging	Het
Mfsd2a	T	C	4: 122,845,088 (GRCm39)	I208V	possibly damaging	Het
Mmrn1	T	A	6: 60,965,411 (GRCm39)	D1147E	probably damaging	Het
Nbeal2	T	A	9: 110,455,177 (GRCm39)	I2574F	probably damaging	Het
Nr3c1	A	T	18: 39,619,449 (GRCm39)	D279E	probably benign	Het
Nrde2	T	C	12: 100,098,747 (GRCm39)	D640G	probably benign	Het
Odf4	A	G	11: 68,817,514 (GRCm39)	L58P	probably damaging	Het
Or4k41	A	T	2: 111,279,631 (GRCm39)	I49F	probably benign	Het
Or4p22	A	T	2: 88,317,651 (GRCm39)	I192F	probably benign	Het
Otud6b	A	C	4: 14,811,743 (GRCm39)	M300R	probably damaging	Het
Pamr1	T	A	2: 102,471,280 (GRCm39)	D534E	probably benign	Het
Pcdh7	T	A	5: 57,878,299 (GRCm39)	V618E	probably benign	Het
Pcgf6	A	C	19: 47,031,226 (GRCm39)	N266K	possibly damaging	Het
Plcz1	A	T	6: 139,968,849 (GRCm39)	Y196*	probably null	Het
Plxna1	A	T	6: 89,334,311 (GRCm39)	L106Q	probably damaging	Het
Qrich2	G	A	11: 116,337,701 (GRCm39)	A184V	probably damaging	Het
Rimkla	A	G	4: 119,325,275 (GRCm39)	L378S	probably benign	Het
Rufy1	G	T	11: 50,295,290 (GRCm39)	H472Q	probably benign	Het
Samd7	T	A	3: 30,810,631 (GRCm39)	M216K	probably benign	Het
Samd9l	A	T	6: 3,375,856 (GRCm39)	Y468*	probably null	Het
Scn2a	T	G	2: 65,558,787 (GRCm39)	L1194R	probably benign	Het
Sgo2a	T	A	1: 58,056,944 (GRCm39)	S1043T	possibly damaging	Het
Slc6a17	G	T	3: 107,378,755 (GRCm39)	H642Q	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
St6galnac3	T	A	3: 153,117,274 (GRCm39)	T150S	possibly damaging	Het
Strip2	T	A	6: 29,941,911 (GRCm39)	I627N	possibly damaging	Het
Sv2c	A	T	13: 96,224,758 (GRCm39)	C184S	probably damaging	Het
Tm7sf2	A	T	19: 6,116,527 (GRCm39)		probably null	Het
Ttc28	T	C	5: 111,371,282 (GRCm39)	I608T	possibly damaging	Het
Vmn1r183	T	G	7: 23,754,926 (GRCm39)	L243R	probably damaging	Het
Vmn1r68	T	C	7: 10,261,778 (GRCm39)	T107A	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Zfp516	T	A	18: 83,006,325 (GRCm39)		probably null	Het
Zpbp2	A	G	11: 98,443,335 (GRCm39)	D56G	probably damaging	Het

Other mutations in Nr1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0048:Nr1d1	UTSW	11	98,661,304 (GRCm39)	missense	probably benign
R1485:Nr1d1	UTSW	11	98,661,187 (GRCm39)	missense	probably benign
R1801:Nr1d1	UTSW	11	98,662,325 (GRCm39)	missense	probably damaging	1.00
R2090:Nr1d1	UTSW	11	98,661,436 (GRCm39)	missense	probably damaging	0.99
R4342:Nr1d1	UTSW	11	98,662,640 (GRCm39)	missense	probably damaging	1.00
R4622:Nr1d1	UTSW	11	98,660,710 (GRCm39)	missense	probably damaging	1.00
R4658:Nr1d1	UTSW	11	98,662,738 (GRCm39)	missense	possibly damaging	0.80
R4664:Nr1d1	UTSW	11	98,662,086 (GRCm39)	missense	possibly damaging	0.95
R4770:Nr1d1	UTSW	11	98,661,471 (GRCm39)	missense	probably benign	0.28
R5408:Nr1d1	UTSW	11	98,661,087 (GRCm39)	missense	probably benign	0.02
R5677:Nr1d1	UTSW	11	98,662,134 (GRCm39)	missense	probably damaging	1.00
R5713:Nr1d1	UTSW	11	98,661,237 (GRCm39)	missense	probably benign	0.00
R6244:Nr1d1	UTSW	11	98,661,363 (GRCm39)	missense	probably damaging	1.00
R6429:Nr1d1	UTSW	11	98,662,840 (GRCm39)	missense	probably damaging	1.00
R6875:Nr1d1	UTSW	11	98,661,662 (GRCm39)	splice site	probably null
R7100:Nr1d1	UTSW	11	98,662,160 (GRCm39)	missense	probably damaging	1.00
R7900:Nr1d1	UTSW	11	98,660,537 (GRCm39)	missense	probably benign	0.10
R8296:Nr1d1	UTSW	11	98,662,133 (GRCm39)	missense	probably damaging	1.00
R8678:Nr1d1	UTSW	11	98,660,073 (GRCm39)	missense	probably damaging	1.00
R8679:Nr1d1	UTSW	11	98,660,073 (GRCm39)	missense	probably damaging	1.00
R8757:Nr1d1	UTSW	11	98,660,073 (GRCm39)	missense	probably damaging	1.00
R8759:Nr1d1	UTSW	11	98,660,073 (GRCm39)	missense	probably damaging	1.00
R9195:Nr1d1	UTSW	11	98,659,883 (GRCm39)	missense	possibly damaging	0.80
R9715:Nr1d1	UTSW	11	98,662,943 (GRCm39)	missense	probably benign	0.01
R9746:Nr1d1	UTSW	11	98,661,160 (GRCm39)	missense	probably benign
X0018:Nr1d1	UTSW	11	98,661,655 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCACTTGTAGACTTCCTG -3'
(R):5'- TGGGAGAATTGCTTCTTACTCC -3'

Sequencing Primer
(F):5'- GGGGCTCCCGTTATAGAAGG -3'
(R):5'- GAATTGCTTCTTACTCCAAGGTTAGG -3'

Posted On

2019-05-15