Incidental Mutation 'IGL01576:Rorb'
ID91246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rorb
Ensembl Gene ENSMUSG00000036192
Gene NameRAR-related orphan receptor beta
SynonymsNr1f2, Rorbeta, RZR-beta
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01576
Quality Score
Status
Chromosome19
Chromosomal Location18930605-19111196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18957334 bp
ZygosityHeterozygous
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]
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: 128,554,330 probably benign Het
Ank3 A G 10: 69,980,291 E541G probably damaging Het
Arhgef5 A T 6: 43,274,028 D571V probably benign Het
Birc6 A G 17: 74,677,370 N4459S possibly damaging Het
Brsk2 T C 7: 141,981,555 I38T possibly damaging Het
Cacna2d4 A T 6: 119,281,641 R563* probably null Het
Car7 T A 8: 104,549,548 probably null Het
Chml T C 1: 175,687,705 T217A probably benign Het
Dnah7b T G 1: 46,268,653 N3042K probably damaging Het
Efcab2 T G 1: 178,437,392 probably benign Het
Espn T C 4: 152,123,717 E397G probably damaging Het
Fam20c A G 5: 138,807,339 T443A probably damaging Het
Fam221b T C 4: 43,666,227 E128G probably benign Het
Fat4 A G 3: 38,888,947 D663G probably damaging Het
Fndc10 T A 4: 155,694,976 V159D probably benign Het
Gm14496 A G 2: 181,991,371 Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 D390Y possibly damaging Het
Herc2 G A 7: 56,226,661 probably null Het
Igdcc3 A G 9: 65,177,870 T199A probably damaging Het
Ireb2 T C 9: 54,892,510 Y412H probably damaging Het
Lpin3 T C 2: 160,897,127 V285A probably benign Het
Mdga1 T C 17: 29,843,127 S443G possibly damaging Het
Med22 C T 2: 26,908,992 probably null Het
Mpp6 G A 6: 50,163,492 R164Q probably benign Het
Olfr1356 G T 10: 78,847,373 L181I possibly damaging Het
Pcnt T G 10: 76,368,822 D2583A probably damaging Het
Pkn3 G A 2: 30,087,042 R598Q probably damaging Het
Pnpla7 T C 2: 25,016,563 V646A probably damaging Het
Podxl A T 6: 31,524,384 V412D probably damaging Het
Rad51ap1 A T 6: 126,928,160 S129R probably damaging Het
Relb T C 7: 19,612,601 I349V probably benign Het
Slc40a1 T A 1: 45,909,597 I508F probably damaging Het
Tanc1 G A 2: 59,797,735 V619M probably damaging Het
Tgm7 A T 2: 121,101,033 D216E probably damaging Het
Tmem132e A G 11: 82,438,374 D493G probably damaging Het
Zfp110 T A 7: 12,849,671 C749S probably damaging Het
Zscan4d T C 7: 11,162,592 N284D possibly damaging Het
Other mutations in Rorb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Rorb APN 19 18957328 nonsense probably null
IGL02863:Rorb APN 19 18952253 missense probably benign 0.05
IGL02886:Rorb APN 19 18977579 critical splice donor site probably null
4-limb_clasper UTSW 19 18983351 missense probably damaging 1.00
dee-no UTSW 19 18955053 missense probably damaging 1.00
grasshopper UTSW 19 19110557 start codon destroyed probably null 0.45
IGL02988:Rorb UTSW 19 18937972 missense probably damaging 1.00
R0748:Rorb UTSW 19 18977800 missense probably damaging 0.97
R1087:Rorb UTSW 19 18960414 missense probably damaging 1.00
R1438:Rorb UTSW 19 18955053 missense probably damaging 1.00
R1710:Rorb UTSW 19 18960501 missense probably damaging 1.00
R1846:Rorb UTSW 19 18955081 missense probably damaging 1.00
R1852:Rorb UTSW 19 18962083 missense probably damaging 1.00
R1972:Rorb UTSW 19 18952203 missense probably damaging 0.96
R3903:Rorb UTSW 19 18962099 missense probably damaging 0.99
R3978:Rorb UTSW 19 18937890 missense probably benign 0.00
R4497:Rorb UTSW 19 18977628 missense possibly damaging 0.95
R4982:Rorb UTSW 19 18977688 missense probably benign 0.05
R5602:Rorb UTSW 19 18977937 missense probably damaging 0.97
R5733:Rorb UTSW 19 18988107 missense probably damaging 1.00
R6267:Rorb UTSW 19 18977857 missense possibly damaging 0.88
R6455:Rorb UTSW 19 18960492 missense probably damaging 1.00
R6544:Rorb UTSW 19 18952250 missense possibly damaging 0.66
R6753:Rorb UTSW 19 18957247 missense probably benign 0.02
R7817:Rorb UTSW 19 18988096 missense probably damaging 1.00
R8708:Rorb UTSW 19 18983416 missense probably damaging 1.00
Posted On2013-12-09