Incidental Mutation 'R6455:Rorb'
ID 519584
Institutional Source Beutler Lab
Gene Symbol Rorb
Ensembl Gene ENSMUSG00000036192
Gene Name RAR-related orphan receptor beta
Synonyms hstp, Rorbeta, RZR-beta, Nr1f2
MMRRC Submission 044591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6455 (G1)
Quality Score 169.009
Status Validated
Chromosome 19
Chromosomal Location 18907969-19088560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18937856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 270 (I270N)
Ref Sequence ENSEMBL: ENSMUSP00000108451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040153] [ENSMUST00000112828] [ENSMUST00000112832]
AlphaFold Q8R1B8
Predicted Effect probably damaging
Transcript: ENSMUST00000040153
AA Change: I281N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: I281N

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: I196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: I196N

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: I270N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: I270N

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
Meta Mutation Damage Score 0.9619 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 96% (70/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,042,376 (GRCm39) R1899G probably damaging Het
Abca6 C T 11: 110,132,407 (GRCm39) G296D probably damaging Het
Abcb5 A T 12: 118,854,284 (GRCm39) probably null Het
Adam28 T G 14: 68,870,657 (GRCm39) T339P probably damaging Het
Adam34l T A 8: 44,079,189 (GRCm39) H345L probably damaging Het
Adcy10 C G 1: 165,345,943 (GRCm39) Q331E probably damaging Het
Aldh1a2 A T 9: 71,160,196 (GRCm39) probably null Het
Alms1 T A 6: 85,673,639 (GRCm39) I3078N probably damaging Het
Amtn A T 5: 88,528,139 (GRCm39) N71Y probably damaging Het
Arhgef18 A T 8: 3,438,753 (GRCm39) Y370F probably benign Het
Arid4a T C 12: 71,121,862 (GRCm39) S748P probably benign Het
Atp2b1 C A 10: 98,852,842 (GRCm39) Q108K possibly damaging Het
Bcdin3d T C 15: 99,368,830 (GRCm39) D123G probably benign Het
Capn15 A G 17: 26,184,410 (GRCm39) S24P probably damaging Het
Cc2d2a T A 5: 43,896,754 (GRCm39) S1550R possibly damaging Het
Ccdc7a C T 8: 129,559,091 (GRCm39) V1174M probably damaging Het
Cd22 T A 7: 30,575,578 (GRCm39) I155F probably damaging Het
Ceacam3 T C 7: 16,895,863 (GRCm39) I611T possibly damaging Het
Chrna1 C T 2: 73,397,180 (GRCm39) D370N possibly damaging Het
Dlg2 C A 7: 92,093,716 (GRCm39) probably null Het
Dll4 A T 2: 119,164,276 (GRCm39) probably null Het
Eif5b T C 1: 38,058,108 (GRCm39) S137P probably benign Het
Epn2 A T 11: 61,424,467 (GRCm39) M250K probably damaging Het
Fat2 T A 11: 55,161,283 (GRCm39) Q3149L probably damaging Het
Fbxl13 G A 5: 21,761,812 (GRCm39) S341F probably benign Het
Gm5141 A T 13: 62,922,597 (GRCm39) C191S probably damaging Het
Gm5150 C T 3: 16,044,815 (GRCm39) G137S probably damaging Het
Gpr75 C T 11: 30,841,529 (GRCm39) R145W probably damaging Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Ina G A 19: 47,012,000 (GRCm39) E473K probably benign Het
Irx6 T C 8: 93,402,700 (GRCm39) S22P probably benign Het
Itpr1 T A 6: 108,394,933 (GRCm39) M32K probably damaging Het
Jmjd1c T A 10: 67,061,795 (GRCm39) S1383T probably benign Het
Lclat1 T A 17: 73,468,828 (GRCm39) S3T probably damaging Het
Llgl1 G A 11: 60,600,486 (GRCm39) V612M probably damaging Het
Mios A G 6: 8,231,239 (GRCm39) R708G probably benign Het
Mphosph8 T C 14: 56,925,943 (GRCm39) L636P probably damaging Het
Mrgpra2b T A 7: 47,113,893 (GRCm39) N254Y probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Myog G A 1: 134,218,226 (GRCm39) D145N probably benign Het
Nat10 T A 2: 103,570,231 (GRCm39) I371F possibly damaging Het
Neb A T 2: 52,057,656 (GRCm39) Y229* probably null Het
Nlrp6 T A 7: 140,507,422 (GRCm39) I896K possibly damaging Het
Or11g7 A T 14: 50,691,042 (GRCm39) I178L possibly damaging Het
Or52p2 G A 7: 102,237,878 (GRCm39) A24V probably benign Het
Or5an11 T C 19: 12,246,070 (GRCm39) S159P probably damaging Het
Pate5 T A 9: 35,755,351 (GRCm39) K3* probably null Het
Pcdhgc5 A C 18: 37,954,301 (GRCm39) E525A probably damaging Het
Pira1 T A 7: 3,741,930 (GRCm39) Y150F probably benign Het
Pkd2 C A 5: 104,607,790 (GRCm39) D96E probably benign Het
Prtg A G 9: 72,815,138 (GRCm39) D1022G probably damaging Het
Ptpn13 T C 5: 103,689,150 (GRCm39) M981T probably benign Het
Rc3h2 C A 2: 37,299,482 (GRCm39) A183S probably damaging Het
Rpgrip1 C T 14: 52,378,646 (GRCm39) R524W probably damaging Het
Slc25a10 T C 11: 120,386,031 (GRCm39) V124A probably damaging Het
Slc40a1 T A 1: 45,958,107 (GRCm39) I109F probably damaging Het
Spen G A 4: 141,202,820 (GRCm39) R1936W probably damaging Het
St6gal2 T A 17: 55,789,514 (GRCm39) Y183N probably benign Het
Svil A G 18: 5,056,629 (GRCm39) K588E possibly damaging Het
Tas2r122 C T 6: 132,688,626 (GRCm39) W89* probably null Het
Tbxas1 T A 6: 38,929,079 (GRCm39) probably benign Het
Tia1 T A 6: 86,397,360 (GRCm39) I111N probably damaging Het
Tlr9 T A 9: 106,101,198 (GRCm39) L163H probably damaging Het
Tnn C T 1: 159,942,289 (GRCm39) V806M probably damaging Het
Traf5 G A 1: 191,731,887 (GRCm39) A318V probably benign Het
Ttc3 T A 16: 94,219,482 (GRCm39) M1K probably null Het
Utp25 G T 1: 192,810,684 (GRCm39) D106E probably benign Het
Vmn1r192 T A 13: 22,372,000 (GRCm39) R73S probably benign Het
Vmn1r71 T C 7: 10,482,331 (GRCm39) Y53C probably benign Het
Vmn2r34 T A 7: 7,686,582 (GRCm39) N372Y probably damaging Het
Wbp2 A T 11: 115,970,579 (GRCm39) S229R probably damaging Het
Wdr18 C T 10: 79,801,115 (GRCm39) T176I probably damaging 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
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
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'- TGGAAGCAGGGTTTTCTAGGAC -3'
(R):5'- CTAAGACTGAGTTTGTTGCAGTAAG -3'

Sequencing Primer
(F):5'- TTTTCTAGGACCCGCGGAG -3'
(R):5'- ACTGAGTTTGTTGCAGTAAGAAATGG -3'
Posted On 2018-05-24