Incidental Mutation 'IGL02362:Rora'
ID290529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rora
Ensembl Gene ENSMUSG00000032238
Gene NameRAR-related orphan receptor alpha
Synonymstmgc26, Nr1f1, 9530021D13Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.884) question?
Stock #IGL02362
Quality Score
Status
Chromosome9
Chromosomal Location68653786-69388246 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69374092 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 329 (Y329H)
Ref Sequence ENSEMBL: ENSMUSP00000109254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034766] [ENSMUST00000113624]
Predicted Effect probably damaging
Transcript: ENSMUST00000034766
AA Change: Y385H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034766
Gene: ENSMUSG00000032238
AA Change: Y385H

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: Y329H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109254
Gene: ENSMUSG00000032238
AA Change: Y329H

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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,211,651 probably benign Het
Adam3 C A 8: 24,697,191 C428F probably damaging Het
Alas1 T C 9: 106,236,639 Y469C probably damaging Het
Asxl1 C T 2: 153,401,786 L1419F probably benign Het
Bcan C T 3: 87,994,142 D418N possibly damaging Het
Cdc42bpg A G 19: 6,310,809 D199G possibly damaging Het
Chst15 T C 7: 132,266,672 N340D probably benign Het
Col12a1 T G 9: 79,630,711 probably benign Het
Cyp2c67 T A 19: 39,643,405 H116L probably benign Het
Cyp2c67 G A 19: 39,617,382 R357* probably null Het
Ears2 T C 7: 122,044,550 D395G probably benign Het
Fam227a A T 15: 79,643,938 probably benign Het
Fap A G 2: 62,573,498 V11A probably benign Het
Ganc A G 2: 120,433,757 D397G probably damaging Het
Gjb6 C A 14: 57,124,295 G170C possibly damaging Het
Gm13023 A G 4: 143,793,010 S114G probably damaging Het
Gm8989 T C 7: 106,330,273 noncoding transcript Het
Gria2 A T 3: 80,706,937 W599R probably damaging Het
Ighv1-64 A G 12: 115,507,616 S94P probably benign Het
Kifc3 C T 8: 95,109,879 A85T probably damaging Het
Lifr G A 15: 7,164,693 probably null Het
Lonp2 T G 8: 86,624,246 S21R probably benign Het
Nxpe3 A G 16: 55,890,586 V30A probably benign Het
Olfml1 T C 7: 107,567,803 V13A probably benign Het
Olfr1490 T C 19: 13,655,233 V268A probably benign Het
Olfr366 A G 2: 37,219,669 Y60C probably damaging Het
Pcnt G A 10: 76,375,162 Q2376* probably null Het
Pglyrp2 A G 17: 32,417,022 L380P probably damaging Het
Plin3 A G 17: 56,286,636 V26A probably benign Het
Rims1 A G 1: 22,483,207 I470T probably damaging Het
Scnn1b G A 7: 121,917,547 R503H probably damaging Het
Sec14l1 A G 11: 117,144,849 D237G possibly damaging Het
Selplg A G 5: 113,819,406 S280P probably benign Het
Serpina12 A G 12: 104,037,881 L164P probably benign Het
Sik2 C T 9: 50,917,603 W176* probably null Het
Slc2a1 T C 4: 119,136,415 F483S possibly damaging Het
Speg A G 1: 75,423,915 D2573G possibly damaging Het
Stil C T 4: 115,010,111 S239L probably damaging Het
Tmem94 C A 11: 115,794,745 S941R probably damaging Het
Tnfrsf11b T A 15: 54,252,382 D273V probably damaging Het
Tns2 A G 15: 102,112,290 T864A probably benign Het
Zfpm2 A G 15: 41,099,494 H184R probably damaging Het
Other mutations in Rora
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Rora APN 9 69371290 missense probably benign 0.31
IGL02355:Rora APN 9 69374092 missense probably damaging 1.00
PIT4696001:Rora UTSW 9 69364559 missense possibly damaging 0.92
R0091:Rora UTSW 9 69374048 missense probably damaging 1.00
R0555:Rora UTSW 9 69361746 missense probably damaging 1.00
R0609:Rora UTSW 9 69361869 missense probably damaging 1.00
R1483:Rora UTSW 9 69364385 missense probably benign 0.00
R1712:Rora UTSW 9 69375489 missense probably benign 0.23
R1785:Rora UTSW 9 69376837 missense probably benign 0.30
R2883:Rora UTSW 9 69375435 missense probably damaging 1.00
R4173:Rora UTSW 9 68653910 missense probably benign 0.41
R5226:Rora UTSW 9 69364141 intron probably benign
R5660:Rora UTSW 9 68653921 missense probably benign 0.27
R6029:Rora UTSW 9 69364452 missense probably benign 0.04
R6054:Rora UTSW 9 69378802 missense probably benign 0.04
R6114:Rora UTSW 9 69371323 missense probably benign
R6329:Rora UTSW 9 69373186 missense probably damaging 1.00
R7028:Rora UTSW 9 69196083 missense possibly damaging 0.46
R7170:Rora UTSW 9 69373190 nonsense probably null
R7233:Rora UTSW 9 69197522 nonsense probably null
R7512:Rora UTSW 9 69374085 missense probably benign 0.00
Z1176:Rora UTSW 9 69364372 missense probably damaging 0.99
Posted On2015-04-16