Incidental Mutation 'R5827:Nr1d2'
ID 450229
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 043218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5827 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 4230569-4265642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18222248 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 8 (V8L)
Ref Sequence ENSEMBL: ENSMUSP00000088031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090543] [ENSMUST00000225491]
AlphaFold Q60674
Predicted Effect possibly damaging
Transcript: ENSMUST00000090543
AA Change: V8L

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
AA Change: V8L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000225491
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Agl T C 3: 116,574,703 (GRCm39) I34V probably damaging Het
Cavin4 A T 4: 48,672,074 (GRCm39) D173V probably damaging Het
Chd9 A G 8: 91,716,078 (GRCm39) D884G probably damaging Het
Col6a5 G A 9: 105,805,319 (GRCm39) R1196* probably null Het
Disc1 T C 8: 125,862,104 (GRCm39) L492P probably damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fbxw4 T C 19: 45,568,096 (GRCm39) T26A probably benign Het
H1f6 A G 13: 23,880,185 (GRCm39) K113E possibly damaging Het
Klhl24 T A 16: 19,938,871 (GRCm39) Y475* probably null Het
Map4k3 C T 17: 80,900,712 (GRCm39) probably null Het
Mfsd6 T C 1: 52,701,551 (GRCm39) E633G probably damaging Het
Mycn G A 12: 12,989,794 (GRCm39) R201* probably null Het
Nek11 T C 9: 105,191,944 (GRCm39) I155M probably damaging Het
Notch2 G A 3: 97,980,178 (GRCm39) V231I possibly damaging Het
Npnt A C 3: 132,612,536 (GRCm39) V187G possibly damaging Het
Nup188 C T 2: 30,229,859 (GRCm39) T1359I probably damaging Het
Or2m12 T A 16: 19,105,182 (GRCm39) I104L probably benign Het
Or4k35 A T 2: 111,100,266 (GRCm39) W149R probably damaging Het
Or5m11b C A 2: 85,805,650 (GRCm39) P21Q probably benign Het
Or8g36 T A 9: 39,422,354 (GRCm39) I221F probably damaging Het
P2rx2 C T 5: 110,488,195 (GRCm39) R453Q probably benign Het
Pcdhb7 A G 18: 37,475,077 (GRCm39) E71G probably benign Het
Pcdhb9 A T 18: 37,535,011 (GRCm39) D335V possibly damaging Het
Pcsk9 C T 4: 106,306,144 (GRCm39) G368R probably damaging Het
Ptgr2 G A 12: 84,342,110 (GRCm39) probably null Het
Rhebl1 T A 15: 98,776,151 (GRCm39) I168F probably damaging Het
Serpina3b A G 12: 104,097,036 (GRCm39) T106A probably benign Het
Sh3pxd2b A G 11: 32,372,422 (GRCm39) I530V probably benign Het
Skint10 T C 4: 112,603,972 (GRCm39) T72A probably benign Het
Slx4 G T 16: 3,819,148 (GRCm39) F8L possibly damaging Het
Tdp2 T C 13: 25,015,836 (GRCm39) L41P probably damaging Het
Tiam2 A G 17: 3,498,764 (GRCm39) I847V probably benign Het
Tmem200c A G 17: 69,149,004 (GRCm39) E529G probably benign Het
Tnpo1 T C 13: 98,993,416 (GRCm39) D590G probably damaging Het
Ube3d T C 9: 86,254,489 (GRCm39) T331A possibly damaging Het
Ugt1a2 T A 1: 88,128,787 (GRCm39) S143R probably damaging Het
Zfp58 A T 13: 67,639,412 (GRCm39) C360S probably damaging Het
Other mutations in Nr1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Nr1d2 APN 14 18,215,502 (GRCm38) intron probably benign
IGL00897:Nr1d2 APN 14 18,214,993 (GRCm38) missense probably benign 0.03
IGL02425:Nr1d2 APN 14 18,222,011 (GRCm38) missense probably benign
IGL03039:Nr1d2 APN 14 18,215,184 (GRCm38) missense probably benign 0.01
IGL03169:Nr1d2 APN 14 18,216,703 (GRCm38) missense probably damaging 1.00
IGL03388:Nr1d2 APN 14 18,215,403 (GRCm38) missense probably benign 0.02
R0173:Nr1d2 UTSW 14 18,215,502 (GRCm38) intron probably benign
R0242:Nr1d2 UTSW 14 18,211,933 (GRCm38) missense possibly damaging 0.80
R0242:Nr1d2 UTSW 14 18,211,933 (GRCm38) missense possibly damaging 0.80
R0674:Nr1d2 UTSW 14 18,215,086 (GRCm38) missense probably benign 0.00
R1240:Nr1d2 UTSW 14 18,211,891 (GRCm38) missense probably benign 0.04
R3115:Nr1d2 UTSW 14 18,215,504 (GRCm38) splice site probably null
R3738:Nr1d2 UTSW 14 18,211,804 (GRCm38) missense possibly damaging 0.74
R4165:Nr1d2 UTSW 14 18,215,446 (GRCm38) missense probably benign 0.05
R5319:Nr1d2 UTSW 14 18,215,197 (GRCm38) missense probably benign 0.00
R5353:Nr1d2 UTSW 14 18,222,125 (GRCm38) missense probably benign 0.05
R5384:Nr1d2 UTSW 14 18,211,922 (GRCm38) missense probably benign 0.08
R5486:Nr1d2 UTSW 14 18,206,860 (GRCm38) missense possibly damaging 0.65
R7873:Nr1d2 UTSW 14 18,216,656 (GRCm38) nonsense probably null
R8268:Nr1d2 UTSW 14 18,216,659 (GRCm38) missense probably damaging 1.00
R8411:Nr1d2 UTSW 14 18,215,031 (GRCm38) missense probably damaging 0.98
R8429:Nr1d2 UTSW 14 18,215,409 (GRCm38) missense probably benign 0.10
R8696:Nr1d2 UTSW 14 18,216,661 (GRCm38) missense probably damaging 1.00
R8912:Nr1d2 UTSW 14 18,220,030 (GRCm38) missense probably damaging 1.00
X0067:Nr1d2 UTSW 14 18,211,823 (GRCm38) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- AGGACAATCTGTGCGGTCAC -3'
(R):5'- AGGTCTGTGTGTTCTTATGACAGAC -3'

Sequencing Primer
(F):5'- GTGCGGTCACTCTTCAGAACAC -3'
(R):5'- ACTTTGTAGAGGGAGTAATATGACAC -3'
Posted On 2016-12-20