Incidental Mutation 'R1087:Rorb'
ID 85097
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 # R1087 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 18907969-19088560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18937778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 307 (K307R)
Ref Sequence ENSEMBL: ENSMUSP00000047597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040153] [ENSMUST00000112828] [ENSMUST00000112832]
AlphaFold Q8R1B8
Predicted Effect probably damaging
Transcript: ENSMUST00000040153
AA Change: K307R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: K307R

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 possibly damaging
Transcript: ENSMUST00000112828
AA Change: K222R

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: K222R

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 damaging
Transcript: ENSMUST00000112832
AA Change: K296R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: K296R

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 A G 14: 25,870,603 (GRCm39) M56V unknown Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atp8b3 T C 10: 80,356,017 (GRCm39) R1232G probably benign Het
Axdnd1 T A 1: 156,193,259 (GRCm39) M643L probably benign Het
Bsph1 A G 7: 13,206,106 (GRCm39) Y57C probably damaging Het
Car13 G A 3: 14,706,885 (GRCm39) W6* probably null Het
Ccdc192 T C 18: 57,863,870 (GRCm39) S225P probably damaging Het
Ccng2 T C 5: 93,421,303 (GRCm39) I271T probably benign Het
Ces1f T A 8: 93,984,923 (GRCm39) D468V probably damaging Het
Chil4 A G 3: 106,117,881 (GRCm39) Y130H probably benign Het
Clns1a T A 7: 97,354,862 (GRCm39) H69Q possibly damaging Het
Cnot11 T A 1: 39,579,139 (GRCm39) S335T probably benign Het
Dcaf11 A G 14: 55,806,581 (GRCm39) S461G probably damaging Het
Dlst G A 12: 85,179,413 (GRCm39) M417I probably damaging Het
Dock4 A C 12: 40,779,937 (GRCm39) I612L probably benign Het
Endod1 A G 9: 14,268,489 (GRCm39) V332A possibly damaging Het
F830045P16Rik T C 2: 129,314,639 (GRCm39) T213A possibly damaging Het
Gm5773 A T 3: 93,681,065 (GRCm39) I246F probably damaging Het
Gml2 T A 15: 74,695,946 (GRCm39) D113E possibly damaging Het
Grik1 T C 16: 87,803,265 (GRCm39) E309G probably benign Het
Hectd1 A T 12: 51,823,355 (GRCm39) I1013K probably damaging Het
Kcmf1 T C 6: 72,835,863 (GRCm39) E22G probably damaging Het
Kdm5b T A 1: 134,528,375 (GRCm39) C361S probably damaging Het
Kif21b T C 1: 136,090,561 (GRCm39) S1150P probably damaging Het
Man2b1 G A 8: 85,821,800 (GRCm39) V701M probably damaging Het
Marchf10 T C 11: 105,281,488 (GRCm39) R266G probably damaging Het
Milr1 A G 11: 106,645,848 (GRCm39) Y130C probably damaging Het
Nampt A G 12: 32,883,042 (GRCm39) T76A possibly damaging Het
Nek10 A G 14: 14,827,059 (GRCm38) N86D possibly damaging Het
Nms T G 1: 38,983,192 (GRCm39) probably null Het
Or10w1 T A 19: 13,632,376 (GRCm39) C194* probably null Het
Parp14 A G 16: 35,678,658 (GRCm39) S437P probably damaging Het
Pif1 A G 9: 65,496,377 (GRCm39) M226V probably benign Het
Rnf169 T C 7: 99,592,204 (GRCm39) R216G probably benign Het
Scube2 T C 7: 109,430,882 (GRCm39) D439G probably damaging Het
Serpinb8 T C 1: 107,534,727 (GRCm39) V266A probably damaging Het
Strip2 A G 6: 29,927,633 (GRCm39) E226G probably damaging Het
Trim23 A G 13: 104,324,618 (GRCm39) D212G possibly damaging Het
Vmn1r172 T A 7: 23,359,673 (GRCm39) V186D possibly damaging Het
Vwde A T 6: 13,186,803 (GRCm39) C895S probably damaging Het
Zswim8 C A 14: 20,767,933 (GRCm39) probably null 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
R0748:Rorb UTSW 19 18,955,164 (GRCm39) missense probably damaging 0.97
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'- ACTTTCACTGCCTGTCAAGCTGG -3'
(R):5'- CAATTCAAGGGCTGTGTCCTCTCTG -3'

Sequencing Primer
(F):5'- TCTCAGCCTCGGCAATTAATAG -3'
(R):5'- GCTGTGTCCTCTCTGCTTCAG -3'
Posted On 2013-11-18