Incidental Mutation 'R1483:Rora'
ID 165707
Institutional Source Beutler Lab
Gene Symbol Rora
Ensembl Gene ENSMUSG00000032238
Gene Name RAR-related orphan receptor alpha
Synonyms tmgc26, Nr1f1, 9530021D13Rik
MMRRC Submission 039536-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R1483 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 68561068-69295528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69271667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 215 (D215G)
Ref Sequence ENSEMBL: ENSMUSP00000034766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034766] [ENSMUST00000113624] [ENSMUST00000174296]
AlphaFold P51448
Predicted Effect probably benign
Transcript: ENSMUST00000034766
AA Change: D215G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034766
Gene: ENSMUSG00000032238
AA Change: D215G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000113624
AA Change: D159G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109254
Gene: ENSMUSG00000032238
AA Change: D159G

DomainStartEndE-ValueType
ZnF_C4 14 85 4.71e-41 SMART
low complexity region 105 119 N/A INTRINSIC
HOLI 269 425 8.8e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152570
Predicted Effect probably benign
Transcript: ENSMUST00000174296
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,531,754 (GRCm39) T494S probably benign Het
Akap6 C T 12: 52,842,870 (GRCm39) P73S probably damaging Het
Amotl2 A T 9: 102,608,096 (GRCm39) T763S probably benign Het
Brd10 G A 19: 29,696,745 (GRCm39) P916L possibly damaging Het
Cdc5l A T 17: 45,719,290 (GRCm39) V541D possibly damaging Het
Chl1 A G 6: 103,624,248 (GRCm39) Y52C probably damaging Het
D6Wsu163e A G 6: 126,931,733 (GRCm39) E255G probably benign Het
Ddhd2 A G 8: 26,243,155 (GRCm39) S126P probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Drc3 A G 11: 60,279,715 (GRCm39) I427V probably benign Het
Drg2 T C 11: 60,350,353 (GRCm39) I104T probably damaging Het
Dst C T 1: 34,292,079 (GRCm39) A932V probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Eif3a A T 19: 60,757,164 (GRCm39) D880E unknown Het
Elf1 T A 14: 79,818,078 (GRCm39) D569E probably benign Het
Esp6 T A 17: 40,873,816 (GRCm39) M1K probably null Het
Fer1l6 T C 15: 58,509,819 (GRCm39) V1427A possibly damaging Het
Gsta1 A T 9: 78,149,775 (GRCm39) K196M probably damaging Het
Gzme T A 14: 56,356,169 (GRCm39) I110F probably damaging Het
H2-DMa T A 17: 34,354,724 (GRCm39) V27E possibly damaging Het
H2-T10 A T 17: 36,432,038 (GRCm39) S2T probably benign Het
Hadhb A G 5: 30,374,492 (GRCm39) probably null Het
Hoxa11 G T 6: 52,220,436 (GRCm39) D282E probably damaging Het
Ifit1bl1 A G 19: 34,572,041 (GRCm39) Y139H possibly damaging Het
Ift27 A G 15: 78,049,436 (GRCm39) V88A possibly damaging Het
Knop1 C T 7: 118,452,273 (GRCm39) A149T probably damaging Het
Macf1 T A 4: 123,404,770 (GRCm39) K597I probably damaging Het
Med16 A T 10: 79,738,934 (GRCm39) I284N possibly damaging Het
Melk T A 4: 44,308,937 (GRCm39) I98K probably damaging Het
Mst1 G T 9: 107,958,849 (GRCm39) G127V probably benign Het
Nacad A G 11: 6,552,217 (GRCm39) S325P probably damaging Het
Nbea G A 3: 55,910,211 (GRCm39) P1328L probably benign Het
Nek5 C T 8: 22,586,806 (GRCm39) S335N probably benign Het
Nif3l1 C A 1: 58,486,885 (GRCm39) R24S probably benign Het
Nlrp14 T G 7: 106,789,329 (GRCm39) N39K possibly damaging Het
Nup50 T A 15: 84,823,928 (GRCm39) V427D probably damaging Het
Nwd1 C T 8: 73,383,714 (GRCm39) P78L probably damaging Het
Or5an9 T A 19: 12,187,114 (GRCm39) Y61* probably null Het
Pate8 G A 9: 36,492,620 (GRCm39) S95L probably benign Het
Pnkd A G 1: 74,388,550 (GRCm39) Y242C probably benign Het
Ppm1g T C 5: 31,360,465 (GRCm39) D423G probably benign Het
Pramel32 T A 4: 88,547,071 (GRCm39) Q116L probably damaging Het
Prkci A T 3: 31,097,941 (GRCm39) N464Y probably damaging Het
Ptprf C T 4: 118,093,161 (GRCm39) V494M possibly damaging Het
Rapgef4 T G 2: 71,885,370 (GRCm39) probably null Het
Rbak T C 5: 143,160,099 (GRCm39) E318G probably damaging Het
Rp1l1 C T 14: 64,266,496 (GRCm39) T694I possibly damaging Het
Scrib A G 15: 75,929,771 (GRCm39) L1032P probably damaging Het
Sectm1b G A 11: 120,946,652 (GRCm39) T81M probably benign Het
Sgk3 T C 1: 9,942,518 (GRCm39) F97L possibly damaging Het
Socs3 A T 11: 117,858,394 (GRCm39) Y221* probably null Het
Spata31d1e A T 13: 59,890,717 (GRCm39) S368T probably damaging Het
Tdrd6 T A 17: 43,938,498 (GRCm39) H850L probably benign Het
Tex44 G T 1: 86,354,908 (GRCm39) Q272H probably damaging Het
Tgfbr2 A C 9: 115,938,625 (GRCm39) S426A probably benign Het
Tmem39b T C 4: 129,570,456 (GRCm39) Y461C probably damaging Het
Ttn T A 2: 76,555,337 (GRCm39) D30556V probably damaging Het
Tubgcp5 T A 7: 55,475,455 (GRCm39) probably null Het
Vmn2r70 T C 7: 85,208,375 (GRCm39) I701V probably benign Het
Vps39 A T 2: 120,154,129 (GRCm39) L622Q probably damaging Het
Wdfy4 T A 14: 32,822,923 (GRCm39) H1347L probably benign Het
Xpo1 A G 11: 23,234,863 (GRCm39) I540V probably benign Het
Xylt2 A C 11: 94,560,393 (GRCm39) M294R probably benign Het
Zfp788 T G 7: 41,298,499 (GRCm39) Y326* probably null Het
Zim1 A G 7: 6,685,124 (GRCm39) F109L probably benign 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
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
R2883:Rora UTSW 9 69,282,717 (GRCm39) missense probably damaging 1.00
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
(F):5'- AAGCAGAGAGACAGCTTGTACGCC -3'
(R):5'- TTTCACTTCACAGGGAATGCCCAG -3'

Sequencing Primer
(F):5'- TACGCCGAGGTgcagaag -3'
(R):5'- AGGAGCACTGCATACTGC -3'
Posted On 2014-03-28