Incidental Mutation 'R0748:Rorb'
ID 70240
Institutional Source Beutler Lab
Gene Symbol Rorb
Ensembl Gene ENSMUSG00000036192
Gene Name RAR-related orphan receptor beta
Synonyms hstp, Rorbeta, RZR-beta, Nr1f2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0748 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 18907969-19088560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18955164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 66 (T66S)
Ref Sequence ENSEMBL: ENSMUSP00000108447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040153] [ENSMUST00000112828] [ENSMUST00000112832]
AlphaFold Q8R1B8
Predicted Effect probably benign
Transcript: ENSMUST00000040153
AA Change: T151S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: T151S

DomainStartEndE-ValueType
ZnF_C4 18 89 1.51e-39 SMART
coiled coil region 95 133 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
HOLI 275 431 1.83e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112828
AA Change: T66S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: T66S

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
HOLI 190 346 1.83e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112832
AA Change: T140S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: T140S

DomainStartEndE-ValueType
ZnF_C4 7 78 1.51e-39 SMART
coiled coil region 84 122 N/A INTRINSIC
low complexity region 123 134 N/A INTRINSIC
HOLI 264 420 1.83e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149635
Meta Mutation Damage Score 0.0785 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that 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, and to help regulate the expression 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: Mice homozygous for disruptions in this gene have impaired vision and a variety of behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 A G 5: 30,401,874 (GRCm39) V718A probably damaging Het
Amigo1 A G 3: 108,095,946 (GRCm39) S482G probably damaging Het
F2rl3 A G 8: 73,489,379 (GRCm39) Q202R probably benign Het
Faap100 A G 11: 120,262,997 (GRCm39) V787A probably damaging Het
Fat4 A T 3: 38,941,977 (GRCm39) Q290L possibly damaging Het
Flnc A G 6: 29,446,343 (GRCm39) E920G probably damaging Het
Gm9881 T C 16: 90,967,313 (GRCm39) N137S unknown Het
Hps4 A G 5: 112,522,780 (GRCm39) E546G probably damaging Het
Htr2b A G 1: 86,038,528 (GRCm39) I26T probably benign Het
Insr A C 8: 3,308,841 (GRCm39) M65R probably damaging Het
Kif20a T C 18: 34,761,241 (GRCm39) probably benign Het
L3mbtl1 A T 2: 162,813,083 (GRCm39) probably benign Het
L3mbtl1 A C 2: 162,813,084 (GRCm39) probably null Het
Lcn4 T C 2: 26,558,359 (GRCm39) I175M probably damaging Het
Malt1 T A 18: 65,608,331 (GRCm39) probably null Het
Nufip1 T C 14: 76,348,508 (GRCm39) S46P probably damaging Het
Nup93 T A 8: 95,034,571 (GRCm39) Y629N probably damaging Het
Or10a49 C A 7: 108,468,357 (GRCm39) M1I probably null Het
Pcsk6 T C 7: 65,688,716 (GRCm39) probably benign Het
Rdx G C 9: 51,976,160 (GRCm39) V33L possibly damaging Het
Rnf213 T C 11: 119,364,306 (GRCm39) L4535P probably damaging Het
S100a9 T C 3: 90,600,198 (GRCm39) D66G possibly damaging Het
Sacs T C 14: 61,446,714 (GRCm39) I2920T probably damaging Het
Safb2 T C 17: 56,882,580 (GRCm39) N351S probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Unc13b G A 4: 43,241,164 (GRCm39) probably benign Het
Vars1 A G 17: 35,216,988 (GRCm39) S489P probably damaging Het
Wars2 A G 3: 99,123,888 (GRCm39) K250E probably damaging Het
Zfp292 A G 4: 34,816,424 (GRCm39) probably benign Het
Other mutations in Rorb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Rorb APN 19 18,934,692 (GRCm39) nonsense probably null
IGL01576:Rorb APN 19 18,934,698 (GRCm39) missense probably damaging 1.00
IGL02863:Rorb APN 19 18,929,617 (GRCm39) missense probably benign 0.05
IGL02886:Rorb APN 19 18,954,943 (GRCm39) critical splice donor site probably null
4-limb_clasper UTSW 19 18,960,715 (GRCm39) missense probably damaging 1.00
dee-no UTSW 19 18,932,417 (GRCm39) missense probably damaging 1.00
grasshopper UTSW 19 19,087,921 (GRCm39) start codon destroyed probably null 0.45
IGL02988:Rorb UTSW 19 18,915,336 (GRCm39) missense probably damaging 1.00
R1087:Rorb UTSW 19 18,937,778 (GRCm39) missense probably damaging 1.00
R1438:Rorb UTSW 19 18,932,417 (GRCm39) missense probably damaging 1.00
R1710:Rorb UTSW 19 18,937,865 (GRCm39) missense probably damaging 1.00
R1846:Rorb UTSW 19 18,932,445 (GRCm39) missense probably damaging 1.00
R1852:Rorb UTSW 19 18,939,447 (GRCm39) missense probably damaging 1.00
R1972:Rorb UTSW 19 18,929,567 (GRCm39) missense probably damaging 0.96
R3903:Rorb UTSW 19 18,939,463 (GRCm39) missense probably damaging 0.99
R3978:Rorb UTSW 19 18,915,254 (GRCm39) missense probably benign 0.00
R4497:Rorb UTSW 19 18,954,992 (GRCm39) missense possibly damaging 0.95
R4982:Rorb UTSW 19 18,955,052 (GRCm39) missense probably benign 0.05
R5602:Rorb UTSW 19 18,955,301 (GRCm39) missense probably damaging 0.97
R5733:Rorb UTSW 19 18,965,471 (GRCm39) missense probably damaging 1.00
R6267:Rorb UTSW 19 18,955,221 (GRCm39) missense possibly damaging 0.88
R6455:Rorb UTSW 19 18,937,856 (GRCm39) missense probably damaging 1.00
R6544:Rorb UTSW 19 18,929,614 (GRCm39) missense possibly damaging 0.66
R6753:Rorb UTSW 19 18,934,611 (GRCm39) missense probably benign 0.02
R7817:Rorb UTSW 19 18,965,460 (GRCm39) missense probably damaging 1.00
R8708:Rorb UTSW 19 18,960,780 (GRCm39) missense probably damaging 1.00
R8918:Rorb UTSW 19 18,915,356 (GRCm39) missense probably damaging 1.00
R8974:Rorb UTSW 19 18,955,070 (GRCm39) missense probably benign 0.00
R9033:Rorb UTSW 19 18,965,422 (GRCm39) start gained probably benign
R9136:Rorb UTSW 19 18,934,686 (GRCm39) missense probably damaging 1.00
R9617:Rorb UTSW 19 18,939,499 (GRCm39) nonsense probably null
R9622:Rorb UTSW 19 18,955,115 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTAACTGCCCGTTGTTGAAAGAG -3'
(R):5'- ATGATACCGAAGAGACAACCGTGC -3'

Sequencing Primer
(F):5'- CCCGTTGTTGAAAGAGCTATAGG -3'
(R):5'- TGCATGTCTCAGACTGAAGTGAC -3'
Posted On 2013-09-30