Incidental Mutation 'R0173:Nr1d2'
ID 23731
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 038445-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0173 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 4230569-4265642 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 18215502 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090543] [ENSMUST00000225491]
AlphaFold Q60674
Predicted Effect probably benign
Transcript: ENSMUST00000090543
SMART Domains Protein: ENSMUSP00000088031
Gene: ENSMUSG00000021775

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik G A 8: 100,148,286 (GRCm39) noncoding transcript Het
Akt1s1 C T 7: 44,502,284 (GRCm39) P95S possibly damaging Het
Ambra1 T C 2: 91,640,564 (GRCm39) probably benign Het
Aunip T A 4: 134,250,861 (GRCm39) W269R probably damaging Het
Bmper A G 9: 23,136,125 (GRCm39) M69V probably benign Het
Cdh2 A T 18: 16,783,314 (GRCm39) probably benign Het
Cenpe T C 3: 134,965,744 (GRCm39) M2074T probably benign Het
Col14a1 C T 15: 55,351,928 (GRCm39) P1592S probably damaging Het
Csgalnact1 G A 8: 68,913,681 (GRCm39) R175C probably damaging Het
Dtx1 A G 5: 120,820,818 (GRCm39) probably benign Het
Elmod3 T C 6: 72,554,571 (GRCm39) D154G probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Gab1 T C 8: 81,526,789 (GRCm39) D103G possibly damaging Het
Gon4l A G 3: 88,765,710 (GRCm39) D377G probably damaging Het
Gramd1c C T 16: 43,818,196 (GRCm39) R328K possibly damaging Het
Hdac3 A G 18: 38,074,806 (GRCm39) S312P probably damaging Het
Hmcn2 T C 2: 31,328,343 (GRCm39) probably null Het
Intu T C 3: 40,629,776 (GRCm39) probably null Het
Lnpk T C 2: 74,381,409 (GRCm39) K118R probably damaging Het
Lzts3 A C 2: 130,476,688 (GRCm39) *587G probably null Het
Mctp2 C T 7: 71,896,855 (GRCm39) probably null Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp23 G T 4: 155,735,222 (GRCm39) R374S possibly damaging Het
Morc3 G A 16: 93,629,094 (GRCm39) probably null Het
Mymk C T 2: 26,952,262 (GRCm39) A161T probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Neb T C 2: 52,133,859 (GRCm39) S3375G probably damaging Het
Nedd1 T C 10: 92,534,745 (GRCm39) D255G probably benign Het
Nid2 T C 14: 19,852,400 (GRCm39) probably benign Het
Nus1 A G 10: 52,294,094 (GRCm39) H86R possibly damaging Het
Or5b118 A T 19: 13,449,065 (GRCm39) I244F probably benign Het
Or7g17 A G 9: 18,768,325 (GRCm39) I135V probably damaging Het
Plcxd2 A T 16: 45,785,542 (GRCm39) probably null Het
Prdm9 T A 17: 15,764,275 (GRCm39) D835V probably benign Het
Prdm9 A G 17: 15,764,297 (GRCm39) W828R probably benign Het
Prkd2 T C 7: 16,582,969 (GRCm39) S244P probably benign Het
Psmd4 A T 3: 94,940,234 (GRCm39) L159H probably damaging Het
Qprt C T 7: 126,707,543 (GRCm39) G215E probably damaging Het
Rab3gap2 C A 1: 184,982,104 (GRCm39) H385Q possibly damaging Het
Rapgef5 A G 12: 117,652,411 (GRCm39) D300G probably benign Het
Rbl1 A T 2: 157,001,605 (GRCm39) N894K probably benign Het
Rgma C T 7: 73,067,302 (GRCm39) R280W probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rundc3a T A 11: 102,289,071 (GRCm39) probably benign Het
Scaf11 A T 15: 96,318,075 (GRCm39) D496E probably benign Het
Scn9a T C 2: 66,363,437 (GRCm39) Y936C probably damaging Het
Sdk1 A G 5: 142,159,564 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,194,705 (GRCm39) D154N probably benign Het
Slc48a1 A T 15: 97,688,555 (GRCm39) H131L possibly damaging Het
Slco1a6 T C 6: 142,048,848 (GRCm39) N311D probably benign Het
Sorl1 A G 9: 41,979,229 (GRCm39) V423A probably damaging Het
Srrm2 C A 17: 24,034,103 (GRCm39) probably benign Het
Srsf12 A T 4: 33,226,117 (GRCm39) S122C probably damaging Het
Suclg2 G C 6: 95,452,154 (GRCm39) probably benign Het
Tbpl1 A T 10: 22,583,523 (GRCm39) L149* probably null Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem63a T C 1: 180,782,363 (GRCm39) probably benign Het
Tut1 C T 19: 8,942,847 (GRCm39) R645* probably null Het
Ubqln4 T A 3: 88,462,686 (GRCm39) D50E probably benign Het
Ubr5 A G 15: 38,004,919 (GRCm39) S1227P probably damaging Het
Vipas39 A G 12: 87,297,285 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps26b G A 9: 26,924,101 (GRCm39) T214I probably benign Het
Xpc A G 6: 91,481,717 (GRCm39) probably benign 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
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
R5827:Nr1d2 UTSW 14 18,222,248 (GRCm38) missense possibly damaging 0.88
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'- GGCTCTGGTCACCATACCAATCAC -3'
(R):5'- CACCTTGGGTCAGGCTTTCTTAGC -3'

Sequencing Primer
(F):5'- GGTCACCATACCAATCACTTCCTC -3'
(R):5'- tgtagtcctggttggcttg -3'
Posted On 2013-04-16