Mutagenetix > Incidental Mutation

Incidental Mutation 'R8678:Nr1d1'

661530

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

068533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98658758-98666159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 98660073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 484 (R484G)

Ref Sequence

ENSEMBL: ENSMUSP00000069505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064187] [ENSMUST00000064941] [ENSMUST00000103139] [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: R484G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889
AA Change: R484G

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: ENSMUST00000103139

SMART Domains

Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756

Domain	Start	End	E-Value	Type
ZnF_C4	50	123	3.09e-36	SMART
HOLI	220	378	7.26e-33	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

Meta Mutation Damage Score

0.8461

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	C	T	16: 20,184,685 (GRCm39)	M991I	probably benign	Het
Acacb	T	A	5: 114,340,032 (GRCm39)	Y814*	probably null	Het
Alg2	A	G	4: 47,474,108 (GRCm39)	F60S	probably damaging	Het
Aoc1l1	C	T	6: 48,953,158 (GRCm39)	T361I	possibly damaging	Het
Arc	A	G	15: 74,543,539 (GRCm39)	L228P	probably damaging	Het
Bnip1	T	A	17: 27,008,923 (GRCm39)		probably benign	Het
Cacng4	A	G	11: 107,625,925 (GRCm39)	L222P	probably damaging	Het
Calb2	A	T	8: 110,874,275 (GRCm39)	V182E	possibly damaging	Het
Cfap44	A	T	16: 44,295,636 (GRCm39)	I1645F	probably damaging	Het
Col6a5	T	C	9: 105,811,551 (GRCm39)	D656G	unknown	Het
Csmd3	A	G	15: 47,499,849 (GRCm39)	S2096P		Het
Cyp2c70	A	T	19: 40,156,016 (GRCm39)	I178N	probably damaging	Het
Dmxl1	C	T	18: 50,004,759 (GRCm39)	Q936*	probably null	Het
Dnaaf3	A	T	7: 4,533,814 (GRCm39)	F94Y	probably damaging	Het
Eid2b	C	T	7: 27,977,480 (GRCm39)	T92I	possibly damaging	Het
Ercc8	T	C	13: 108,306,027 (GRCm39)		probably null	Het
Fank1	G	A	7: 133,463,957 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,312,376 (GRCm39)	E324*	probably null	Het
Fcnb	A	G	2: 27,968,361 (GRCm39)	F199L	possibly damaging	Het
Galnt16	A	G	12: 80,630,822 (GRCm39)	D300G	probably damaging	Het
Gli1	T	C	10: 127,173,260 (GRCm39)	S133G	probably null	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,666 (GRCm39)	D412G	probably benign	Het
Klhl20	A	T	1: 160,936,997 (GRCm39)	I126N	probably damaging	Het
Lama1	A	G	17: 68,124,098 (GRCm39)	E2841G		Het
Lmtk3	T	A	7: 45,435,975 (GRCm39)	C85*	probably null	Het
Madd	T	C	2: 91,006,610 (GRCm39)	Y328C	probably damaging	Het
Map1a	G	T	2: 121,137,737 (GRCm39)	R2851L	probably damaging	Het
Mctp2	T	C	7: 71,752,955 (GRCm39)	D766G	probably damaging	Het
Mei4	T	A	9: 81,809,638 (GRCm39)	F240L	probably damaging	Het
Mgat3	A	T	15: 80,096,472 (GRCm39)	Y433F	possibly damaging	Het
Muc20	T	A	16: 32,617,789 (GRCm39)		probably benign	Het
Nat8f1	A	G	6: 85,887,738 (GRCm39)	V74A	probably benign	Het
Nfe2l3	A	G	6: 51,435,153 (GRCm39)	D571G	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nphs1	T	C	7: 30,163,284 (GRCm39)	L480S	probably damaging	Het
Or2ag2	A	G	7: 106,485,280 (GRCm39)	V248A	probably damaging	Het
Or4c122	T	A	2: 89,079,351 (GRCm39)	Y217F	probably damaging	Het
Or8j3b	C	T	2: 86,205,069 (GRCm39)	R229H	probably benign	Het
Parp10	C	A	15: 76,117,599 (GRCm39)	C929F	probably damaging	Het
Pcdhb21	A	G	18: 37,647,939 (GRCm39)	E356G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,623,468 (GRCm39)	R600*	probably null	Het
Ppp1r13l	C	A	7: 19,109,697 (GRCm39)	T706K	probably benign	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Ppp1r16b	G	A	2: 158,598,942 (GRCm39)	R334Q	probably damaging	Het
Ppp1r7	A	G	1: 93,280,364 (GRCm39)	Q188R	probably benign	Het
Pramel26	C	A	4: 143,538,576 (GRCm39)	A132S	probably benign	Het
Prkdc	G	T	16: 15,526,796 (GRCm39)		probably null	Het
Prss33	T	C	17: 24,053,723 (GRCm39)	D118G	probably benign	Het
Rab3gap2	T	G	1: 184,983,281 (GRCm39)	I473M	probably damaging	Het
Rbm44	A	G	1: 91,080,103 (GRCm39)	E97G	probably damaging	Het
Ros1	A	G	10: 51,963,998 (GRCm39)	M1775T	probably benign	Het
Ryr1	T	A	7: 28,776,489 (GRCm39)	M2216L	probably damaging	Het
Scn7a	A	G	2: 66,574,041 (GRCm39)		probably benign	Het
Slc31a2	G	A	4: 62,210,896 (GRCm39)	V12M	probably benign	Het
Slc35b1	T	C	11: 95,278,646 (GRCm39)	Y177H	probably damaging	Het
Slfn9	T	A	11: 82,872,370 (GRCm39)	M789L	probably benign	Het
Srf	A	G	17: 46,861,825 (GRCm39)		probably null	Het
Tank	A	G	2: 61,457,287 (GRCm39)	E81G	probably damaging	Het
Tia1	T	A	6: 86,402,685 (GRCm39)	M241K	probably benign	Het
Tiam1	G	T	16: 89,681,709 (GRCm39)	S423*	probably null	Het
Tubg1	T	G	11: 101,015,264 (GRCm39)	S237A	probably benign	Het
Ubash3b	G	A	9: 40,942,785 (GRCm39)	P358S	probably benign	Het
Vmn2r3	T	C	3: 64,166,896 (GRCm39)	E745G	possibly damaging	Het
Vmn2r4	T	A	3: 64,314,391 (GRCm39)	I197F	probably benign	Het
Vps37d	C	A	5: 135,105,386 (GRCm39)	R79L	probably damaging	Het
Wdr7	T	A	18: 63,910,768 (GRCm39)	L720Q	probably damaging	Het
Xkr5	T	C	8: 18,984,048 (GRCm39)	N498S	probably benign	Het
Zc2hc1c	A	T	12: 85,337,084 (GRCm39)	E247V	probably benign	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
R7073:Nr1d1	UTSW	11	98,662,892 (GRCm39)	missense	probably damaging	0.99
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
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'- TGAATAGGCCCAGCTCCTCC -3'
(R):5'- AGACAACTCTCCTCTACTCTAGGC -3'

Sequencing Primer
(F):5'- AGCTCCTCCTCGGTAAGTG -3'
(R):5'- TTACATTCCAGAAGTGGCGG -3'

Posted On

2021-03-08