Incidental Mutation 'R5811:Nr2e3'
ID 447521
Institutional Source Beutler Lab
Gene Symbol Nr2e3
Ensembl Gene ENSMUSG00000032292
Gene Name nuclear receptor subfamily 2, group E, member 3
Synonyms RNR, Pnr, photoreceptor-specific nuclear receptor
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5811 (G1)
Quality Score 217
Status Not validated
Chromosome 9
Chromosomal Location 59850054-59867942 bp(-) (GRCm39)
Type of Mutation small deletion (5 aa in frame mutation)
DNA Base Change (assembly) TCCATCGGAGTGTTCCC to TC at 59850701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034831]
AlphaFold Q9QXZ7
Predicted Effect probably benign
Transcript: ENSMUST00000034831
SMART Domains Protein: ENSMUSP00000034831
Gene: ENSMUSG00000032292

DomainStartEndE-ValueType
ZnF_C4 37 109 1.26e-32 SMART
HOLI 209 367 3.92e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215963
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Nr2e3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Nr2e3 APN 9 59,856,291 (GRCm39) missense probably benign 0.14
R1448:Nr2e3 UTSW 9 59,850,797 (GRCm39) missense probably damaging 1.00
R1521:Nr2e3 UTSW 9 59,856,488 (GRCm39) missense probably damaging 0.99
R1657:Nr2e3 UTSW 9 59,856,050 (GRCm39) missense probably benign 0.08
R1819:Nr2e3 UTSW 9 59,850,720 (GRCm39) missense probably damaging 1.00
R1953:Nr2e3 UTSW 9 59,857,079 (GRCm39) missense probably benign 0.23
R3919:Nr2e3 UTSW 9 59,850,723 (GRCm39) missense probably damaging 1.00
R3925:Nr2e3 UTSW 9 59,855,716 (GRCm39) missense probably damaging 1.00
R4654:Nr2e3 UTSW 9 59,856,355 (GRCm39) intron probably benign
R5239:Nr2e3 UTSW 9 59,857,059 (GRCm39) splice site probably benign
R5310:Nr2e3 UTSW 9 59,856,617 (GRCm39) intron probably benign
R5586:Nr2e3 UTSW 9 59,856,484 (GRCm39) missense probably damaging 0.99
R5812:Nr2e3 UTSW 9 59,850,701 (GRCm39) small deletion probably benign
R5813:Nr2e3 UTSW 9 59,850,701 (GRCm39) small deletion probably benign
R7267:Nr2e3 UTSW 9 59,855,972 (GRCm39) missense possibly damaging 0.68
R7467:Nr2e3 UTSW 9 59,856,434 (GRCm39) splice site probably null
R7642:Nr2e3 UTSW 9 59,854,671 (GRCm39) missense possibly damaging 0.78
R7999:Nr2e3 UTSW 9 59,856,282 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCAAGCAGAGTTAGGGGTATTAAG -3'
(R):5'- CCCTGTATTGAAATGCCCCTG -3'

Sequencing Primer
(F):5'- ATTAGGATGGCAATGAATATGCC -3'
(R):5'- TGGCTGGCCCTGGACAAC -3'
Posted On 2016-12-15