Incidental Mutation 'IGL01576:Rorb'
ID 91246
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01576
Quality Score
Status
Chromosome 19
Chromosomal Location 18907969-19088560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18934698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 224 (G224D)
Ref Sequence ENSEMBL: ENSMUSP00000108447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040153] [ENSMUST00000112828] [ENSMUST00000112832]
AlphaFold Q8R1B8
Predicted Effect probably damaging
Transcript: ENSMUST00000040153
AA Change: G309D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: G309D

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: G224D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: G224D

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 possibly damaging
Transcript: ENSMUST00000112832
AA Change: G298D

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: G298D

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,531,293 (GRCm39) probably benign Het
Ank3 A G 10: 69,816,121 (GRCm39) E541G probably damaging Het
Arhgef5 A T 6: 43,250,962 (GRCm39) D571V probably benign Het
Birc6 A G 17: 74,984,365 (GRCm39) N4459S possibly damaging Het
Brsk2 T C 7: 141,535,292 (GRCm39) I38T possibly damaging Het
Cacna2d4 A T 6: 119,258,602 (GRCm39) R563* probably null Het
Car7 T A 8: 105,276,180 (GRCm39) probably null Het
Chml T C 1: 175,515,271 (GRCm39) T217A probably benign Het
Dnah7b T G 1: 46,307,813 (GRCm39) N3042K probably damaging Het
Efcab2 T G 1: 178,264,957 (GRCm39) probably benign Het
Espn T C 4: 152,208,174 (GRCm39) E397G probably damaging Het
Fam20c A G 5: 138,793,094 (GRCm39) T443A probably damaging Het
Fam221b T C 4: 43,666,227 (GRCm39) E128G probably benign Het
Fat4 A G 3: 38,943,096 (GRCm39) D663G probably damaging Het
Fndc10 T A 4: 155,779,433 (GRCm39) V159D probably benign Het
Gm14496 A G 2: 181,633,164 (GRCm39) Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 (GRCm39) D390Y possibly damaging Het
Herc2 G A 7: 55,876,409 (GRCm39) probably null Het
Igdcc3 A G 9: 65,085,152 (GRCm39) T199A probably damaging Het
Ireb2 T C 9: 54,799,794 (GRCm39) Y412H probably damaging Het
Lpin3 T C 2: 160,739,047 (GRCm39) V285A probably benign Het
Mdga1 T C 17: 30,062,101 (GRCm39) S443G possibly damaging Het
Med22 C T 2: 26,799,004 (GRCm39) probably null Het
Or7c70 G T 10: 78,683,207 (GRCm39) L181I possibly damaging Het
Pals2 G A 6: 50,140,472 (GRCm39) R164Q probably benign Het
Pcnt T G 10: 76,204,656 (GRCm39) D2583A probably damaging Het
Pkn3 G A 2: 29,977,054 (GRCm39) R598Q probably damaging Het
Pnpla7 T C 2: 24,906,575 (GRCm39) V646A probably damaging Het
Podxl A T 6: 31,501,319 (GRCm39) V412D probably damaging Het
Rad51ap1 A T 6: 126,905,123 (GRCm39) S129R probably damaging Het
Relb T C 7: 19,346,526 (GRCm39) I349V probably benign Het
Slc40a1 T A 1: 45,948,757 (GRCm39) I508F probably damaging Het
Tanc1 G A 2: 59,628,079 (GRCm39) V619M probably damaging Het
Tgm7 A T 2: 120,931,514 (GRCm39) D216E probably damaging Het
Tmem132e A G 11: 82,329,200 (GRCm39) D493G probably damaging Het
Zfp110 T A 7: 12,583,598 (GRCm39) C749S probably damaging Het
Zscan4d T C 7: 10,896,519 (GRCm39) N284D possibly damaging Het
Other mutations in Rorb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Rorb APN 19 18,934,692 (GRCm39) nonsense probably null
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
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
Posted On 2013-12-09