Incidental Mutation 'R6544:Rorb'
ID 521064
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 044670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 18907969-19088560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18929614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 304 (P304T)
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: P389T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: P389T

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: P304T

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: P304T

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: P378T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: P378T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T 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
R6455:Rorb UTSW 19 18,937,856 (GRCm39) missense probably damaging 1.00
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'- TCTATGCTGCTGAGACATTCAC -3'
(R):5'- ACCAAATGGCTTCTCTGTATCC -3'

Sequencing Primer
(F):5'- GAGACATTCACCCTGTTCATGCAG -3'
(R):5'- GTCAGCCTCACCTCACTATTTACAAG -3'
Posted On 2018-06-06