Incidental Mutation 'IGL03039:Nr1d2'
ID408819
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr1d2
Ensembl Gene ENSMUSG00000021775
Gene Namenuclear receptor subfamily 1, group D, member 2
SynonymsRev-erb beta, RVR
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03039
Quality Score
Status
Chromosome14
Chromosomal Location18204054-18239127 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 18215184 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 276 (M276K)
Ref Sequence ENSEMBL: ENSMUSP00000088031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090543] [ENSMUST00000225491]
PDB Structure
[]
Predicted Effect probably benign
Transcript: ENSMUST00000090543
AA Change: M276K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775
AA Change: M276K

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 noncoding transcript
Transcript: ENSMUST00000225308
Predicted Effect probably benign
Transcript: ENSMUST00000225491
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,418,055 E241G probably benign Het
Adam6b T C 12: 113,490,882 C440R probably damaging Het
Agbl2 A G 2: 90,801,222 D308G possibly damaging Het
Cfh G T 1: 140,136,261 Q408K possibly damaging Het
Chrna7 A G 7: 63,148,592 L114P probably damaging Het
Defa35 G A 8: 21,065,823 C66Y probably damaging Het
Dnah12 C A 14: 26,724,512 Q743K probably benign Het
Esco2 T C 14: 65,831,418 K148E probably damaging Het
Gm17079 T A 14: 51,693,061 E109V probably damaging Het
Herc2 T A 7: 56,169,021 probably benign Het
Igkv1-88 T C 6: 68,862,292 Y112C possibly damaging Het
Igkv4-50 T C 6: 69,701,058 R21G probably benign Het
Kbtbd11 A G 8: 15,027,467 D22G probably benign Het
Kcnb2 A G 1: 15,711,211 D769G probably benign Het
Kdm2b C A 5: 122,881,671 W817L probably benign Het
Myo18b A G 5: 112,840,771 V983A probably damaging Het
Olfr1129 T A 2: 87,575,192 M36K probably benign Het
Olfr320 T A 11: 58,684,011 V46D probably damaging Het
Phf20 T C 2: 156,298,541 Y712H probably damaging Het
Phkg2 T A 7: 127,579,694 Y27* probably null Het
Pomt2 C A 12: 87,110,366 L726F probably benign Het
Setd3 T C 12: 108,162,970 probably null Het
Skint4 T C 4: 112,124,650 V272A probably benign Het
Slc41a2 A G 10: 83,283,858 Y347H probably benign Het
Slc45a2 T C 15: 11,012,687 S259P probably benign Het
Tgfbr3 A C 5: 107,177,799 probably benign Het
Tgfbrap1 A T 1: 43,075,928 I4N possibly damaging Het
Trh C A 6: 92,243,728 R51L probably damaging Het
Vars2 A T 17: 35,664,121 V312E probably damaging Het
Wdfy2 T C 14: 62,948,720 V268A probably benign Het
Other mutations in Nr1d2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5319:Nr1d2 UTSW 14 18215197 missense probably benign 0.00
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
X0067:Nr1d2 UTSW 14 18211823 missense possibly damaging 0.60
Posted On2016-08-02