Incidental Mutation 'R0091:Rora'
ID 20216
Institutional Source Beutler Lab
Gene Symbol Rora
Ensembl Gene ENSMUSG00000032238
Gene Name RAR-related orphan receptor alpha
Synonyms tmgc26, Nr1f1, 9530021D13Rik
MMRRC Submission 038378-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R0091 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 68561068-69295528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69281330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 314 (R314H)
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: R370H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034766
Gene: ENSMUSG00000032238
AA Change: R370H

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 damaging
Transcript: ENSMUST00000113624
AA Change: R314H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109254
Gene: ENSMUSG00000032238
AA Change: R314H

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
Meta Mutation Damage Score 0.2784 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.4%
  • 20x: 84.5%
Validation Efficiency 98% (86/88)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,932,179 (GRCm39) S278P possibly damaging Het
Adam11 A G 11: 102,663,665 (GRCm39) Y281C probably damaging Het
Adam6a G T 12: 113,507,849 (GRCm39) R74L possibly damaging Het
Adcy5 T C 16: 35,091,368 (GRCm39) probably null Het
Adrb2 A G 18: 62,312,090 (GRCm39) L245P probably benign Het
Aebp2 T C 6: 140,589,800 (GRCm39) probably null Het
Arhgap23 A G 11: 97,343,070 (GRCm39) T240A probably benign Het
Atp10a T C 7: 58,423,794 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,274,213 (GRCm39) Y416F probably damaging Het
Atp5mc2 A C 15: 102,571,492 (GRCm39) L133R probably damaging Het
Bicral A T 17: 47,136,233 (GRCm39) Y326N probably damaging Het
Chst4 T C 8: 110,757,297 (GRCm39) S189G probably damaging Het
Cnot1 A T 8: 96,489,772 (GRCm39) I477N probably damaging Het
Col7a1 G T 9: 108,796,574 (GRCm39) probably benign Het
Dchs1 A G 7: 105,415,301 (GRCm39) probably benign Het
Dcn A G 10: 97,342,551 (GRCm39) N169S probably benign Het
Dnajc6 T C 4: 101,473,974 (GRCm39) probably benign Het
Egln3 A G 12: 54,228,432 (GRCm39) F225L probably benign Het
Erap1 G A 13: 74,816,171 (GRCm39) R100Q possibly damaging Het
Erc2 A T 14: 27,498,781 (GRCm39) probably null Het
Fto G A 8: 92,168,435 (GRCm39) probably null Het
Gdap1l1 C T 2: 163,288,011 (GRCm39) P80S probably damaging Het
Gm1123 T C 9: 98,905,405 (GRCm39) E35G possibly damaging Het
Hhipl1 A G 12: 108,288,156 (GRCm39) probably benign Het
Ift80 A T 3: 68,822,008 (GRCm39) L679Q probably damaging Het
Il18 A G 9: 50,488,013 (GRCm39) probably benign Het
Inhbb T C 1: 119,345,125 (GRCm39) Y388C probably damaging Het
Kmt2d G T 15: 98,742,360 (GRCm39) probably benign Het
Krt20 A G 11: 99,328,640 (GRCm39) V95A probably damaging Het
Lck A T 4: 129,449,474 (GRCm39) S274R possibly damaging Het
Lrp1 T A 10: 127,376,848 (GRCm39) N4243I probably damaging Het
Lrrfip2 G A 9: 111,043,311 (GRCm39) V506I probably damaging Het
Ltbp2 A G 12: 84,840,507 (GRCm39) C1000R probably damaging Het
Matn3 G A 12: 9,002,105 (GRCm39) D106N probably damaging Het
Mical2 A G 7: 111,980,503 (GRCm39) E49G probably benign Het
Mmadhc A G 2: 50,182,869 (GRCm39) S36P probably damaging Het
Morn1 T C 4: 155,229,629 (GRCm39) Y433H probably damaging Het
Mpo A G 11: 87,692,436 (GRCm39) M525V probably benign Het
Myo5a C T 9: 75,068,774 (GRCm39) R659C probably damaging Het
Obox6 T C 7: 15,568,364 (GRCm39) S171G probably benign Het
Or1j18 A G 2: 36,624,917 (GRCm39) N195D probably damaging Het
Or4k36 T A 2: 111,146,518 (GRCm39) D231E probably benign Het
Or5g29 A T 2: 85,421,696 (GRCm39) N271Y probably benign Het
P2ry14 A G 3: 59,023,314 (GRCm39) Y49H probably benign Het
Papss2 C T 19: 32,611,302 (GRCm39) T17I possibly damaging Het
Pcid2 T C 8: 13,135,392 (GRCm39) T206A probably benign Het
Pex6 A G 17: 47,022,844 (GRCm39) E140G probably damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prdx2 T G 8: 85,698,330 (GRCm39) probably benign Het
Ptbp2 A T 3: 119,514,310 (GRCm39) L471Q probably damaging Het
Rbm33 T A 5: 28,557,604 (GRCm39) D232E possibly damaging Het
Rnf214 T A 9: 45,809,791 (GRCm39) probably null Het
Rufy4 T C 1: 74,168,095 (GRCm39) probably benign Het
Sag T C 1: 87,742,402 (GRCm39) V58A probably damaging Het
Serpina3i C T 12: 104,231,423 (GRCm39) T20M probably damaging Het
Slc4a5 A G 6: 83,254,537 (GRCm39) N578S probably benign Het
Soat2 A G 15: 102,066,574 (GRCm39) Y285C probably damaging Het
Syk A G 13: 52,794,769 (GRCm39) Y478C probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tas2r126 A T 6: 42,412,036 (GRCm39) M190L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttc19 A G 11: 62,199,910 (GRCm39) D218G probably damaging Het
Tut1 T C 19: 8,942,800 (GRCm39) V629A probably damaging Het
Txndc11 T C 16: 10,905,968 (GRCm39) N521D probably benign Het
Ushbp1 T C 8: 71,841,614 (GRCm39) E405G possibly damaging Het
Usp46 C T 5: 74,163,918 (GRCm39) R246Q probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Vmn2r104 T A 17: 20,262,075 (GRCm39) I352F possibly damaging Het
Wdr4 G A 17: 31,715,890 (GRCm39) T398I probably benign Het
Ythdc1 T A 5: 86,968,560 (GRCm39) 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
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
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'- TGCTGAGCTGCTGGAAAGATGC -3'
(R):5'- ACTGTGAAAGCCCATGCACTACTC -3'

Sequencing Primer
(F):5'- CCCTCTGCAATGTGAGTCAG -3'
(R):5'- CAAAGATATTTGCTGCTTGCCG -3'
Posted On 2013-04-11