Incidental Mutation 'R2883:Rora'
ID 260920
Institutional Source Beutler Lab
Gene Symbol Rora
Ensembl Gene ENSMUSG00000032238
Gene Name RAR-related orphan receptor alpha
Synonyms tmgc26, Nr1f1, 9530021D13Rik
MMRRC Submission 040471-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R2883 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 68561068-69295528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69282717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 356 (S356P)
Ref Sequence ENSEMBL: ENSMUSP00000109254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034766] [ENSMUST00000113624]
AlphaFold P51448
Predicted Effect probably damaging
Transcript: ENSMUST00000034766
AA Change: S412P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034766
Gene: ENSMUSG00000032238
AA Change: S412P

low complexity region 2 26 N/A INTRINSIC
ZnF_C4 70 141 4.71e-41 SMART
low complexity region 161 175 N/A INTRINSIC
HOLI 325 481 8.8e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113624
AA Change: S356P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109254
Gene: ENSMUSG00000032238
AA Change: S356P

ZnF_C4 14 85 4.71e-41 SMART
low complexity region 105 119 N/A INTRINSIC
HOLI 269 425 8.8e-32 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for null mutations exhibit ataxia, cerebellar dysgenesis, impaired Purkinje and granule cell development, olfactory defects, hypoalphalipoproteinemia, and death around 4 weeks. Heterozygotes show slow Purkinje cell dedritic atrophy and loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik G A 8: 122,266,644 (GRCm39) P81S probably damaging Het
Arhgef10l T C 4: 140,244,113 (GRCm39) Q790R probably benign Het
Asic2 T A 11: 80,784,839 (GRCm39) I367F possibly damaging Het
Asxl2 T C 12: 3,551,830 (GRCm39) S1191P probably benign Het
Bod1l A G 5: 41,989,602 (GRCm39) S374P probably benign Het
C1qtnf7 T A 5: 43,773,222 (GRCm39) F167I probably damaging Het
Cimip3 C A 17: 47,747,650 (GRCm39) V32F probably damaging Het
Col13a1 A G 10: 61,814,135 (GRCm39) L94P probably benign Het
Cped1 A T 6: 22,143,978 (GRCm39) T575S probably damaging Het
Cpt1b T C 15: 89,302,072 (GRCm39) Y702C probably benign Het
D630039A03Rik T A 4: 57,910,560 (GRCm39) N84I probably damaging Het
Dse A T 10: 34,028,503 (GRCm39) D862E probably benign Het
Etl4 A T 2: 20,810,985 (GRCm39) T1023S possibly damaging Het
Fat4 T A 3: 39,034,953 (GRCm39) N2868K probably damaging Het
Fgd5 G A 6: 91,964,090 (GRCm39) probably null Het
Fsip2 C T 2: 82,821,868 (GRCm39) T5867I possibly damaging Het
Fuca2 A G 10: 13,381,695 (GRCm39) T203A probably benign Het
Gli2 T C 1: 118,795,874 (GRCm39) I131V probably damaging Het
Gtpbp4 A G 13: 9,040,759 (GRCm39) V122A possibly damaging Het
Kif1b G A 4: 149,322,105 (GRCm39) T938I possibly damaging Het
Klhl29 T C 12: 5,134,036 (GRCm39) D767G probably damaging Het
Mageb3 A G 2: 121,784,847 (GRCm39) V285A probably benign Het
Myoc A G 1: 162,467,185 (GRCm39) E118G possibly damaging Het
Nedd1 A C 10: 92,530,860 (GRCm39) F410V probably damaging Het
Nipal1 A T 5: 72,825,073 (GRCm39) K255N probably damaging Het
Npr3 T C 15: 11,883,410 (GRCm39) K340E possibly damaging Het
Obsl1 C A 1: 75,473,155 (GRCm39) G1023C possibly damaging Het
Ogdh T C 11: 6,284,545 (GRCm39) L188P probably damaging Het
Or51ac3 T C 7: 103,214,471 (GRCm39) N5S probably benign Het
Or5v1 C T 17: 37,810,271 (GRCm39) S243F probably damaging Het
Or9q1 T A 19: 13,805,239 (GRCm39) I174F probably damaging Het
Otogl G A 10: 107,604,842 (GRCm39) T2188M probably damaging Het
Pck1 G A 2: 173,000,368 (GRCm39) V600I probably benign Het
Ranbp17 A G 11: 33,454,708 (GRCm39) C42R probably damaging Het
Rapgef4 G A 2: 71,861,469 (GRCm39) R53H probably benign Het
Rbm12 G A 2: 155,938,995 (GRCm39) H426Y probably damaging Het
Retreg2 C T 1: 75,123,356 (GRCm39) P428L probably benign Het
Rev3l G T 10: 39,701,152 (GRCm39) S1883I probably damaging Het
Rinl CGGG CGGGGG 7: 28,497,083 (GRCm39) probably null Het
Slc31a1 T C 4: 62,307,008 (GRCm39) V188A probably damaging Het
Slc9a3 A G 13: 74,306,879 (GRCm39) K335E probably damaging Het
Spata22 C A 11: 73,235,504 (GRCm39) H274N possibly damaging Het
Srrm1 T C 4: 135,048,722 (GRCm39) probably benign Het
Stab2 A T 10: 86,803,550 (GRCm39) I333N possibly damaging Het
Supt5 A G 7: 28,028,745 (GRCm39) Y153H possibly damaging Het
Tyk2 T C 9: 21,021,883 (GRCm39) T825A probably benign Het
Usp20 G A 2: 30,908,812 (GRCm39) V798M probably benign Het
Wdr26 A T 1: 181,038,685 (GRCm39) D102E probably damaging Het
Other mutations in Rora
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Rora APN 9 69,278,572 (GRCm39) missense probably benign 0.31
IGL02355:Rora APN 9 69,281,374 (GRCm39) missense probably damaging 1.00
IGL02362:Rora APN 9 69,281,374 (GRCm39) missense probably damaging 1.00
PIT4696001:Rora UTSW 9 69,271,841 (GRCm39) missense possibly damaging 0.92
R0091:Rora UTSW 9 69,281,330 (GRCm39) missense probably damaging 1.00
R0555:Rora UTSW 9 69,269,028 (GRCm39) missense probably damaging 1.00
R0609:Rora UTSW 9 69,269,151 (GRCm39) missense probably damaging 1.00
R1483:Rora UTSW 9 69,271,667 (GRCm39) missense probably benign 0.00
R1712:Rora UTSW 9 69,282,771 (GRCm39) missense probably benign 0.23
R1785:Rora UTSW 9 69,284,119 (GRCm39) missense probably benign 0.30
R4173:Rora UTSW 9 68,561,192 (GRCm39) missense probably benign 0.41
R5226:Rora UTSW 9 69,271,423 (GRCm39) intron probably benign
R5660:Rora UTSW 9 68,561,203 (GRCm39) missense probably benign 0.27
R6029:Rora UTSW 9 69,271,734 (GRCm39) missense probably benign 0.04
R6054:Rora UTSW 9 69,286,084 (GRCm39) missense probably benign 0.04
R6114:Rora UTSW 9 69,278,605 (GRCm39) missense probably benign
R6329:Rora UTSW 9 69,280,468 (GRCm39) missense probably damaging 1.00
R7028:Rora UTSW 9 69,103,365 (GRCm39) missense possibly damaging 0.46
R7170:Rora UTSW 9 69,280,472 (GRCm39) nonsense probably null
R7233:Rora UTSW 9 69,104,804 (GRCm39) nonsense probably null
R7512:Rora UTSW 9 69,281,367 (GRCm39) missense probably benign 0.00
R9647:Rora UTSW 9 69,255,450 (GRCm39) missense probably damaging 1.00
Z1176:Rora UTSW 9 69,271,654 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-01-23