Incidental Mutation 'R3978:Rorb'
ID 311162
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 040941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3978 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 18907969-19088560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18915254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 468 (V468A)
Ref Sequence ENSEMBL: ENSMUSP00000047597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040153] [ENSMUST00000112828] [ENSMUST00000112832]
AlphaFold Q8R1B8
Predicted Effect probably benign
Transcript: ENSMUST00000040153
AA Change: V468A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047597
Gene: ENSMUSG00000036192
AA Change: V468A

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 benign
Transcript: ENSMUST00000112828
AA Change: V383A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108447
Gene: ENSMUSG00000036192
AA Change: V383A

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: V457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108451
Gene: ENSMUSG00000036192
AA Change: V457A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arid2 A G 15: 96,261,503 (GRCm39) D453G probably damaging Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Psmd1 T C 1: 86,055,909 (GRCm39) M757T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Smgc A T 15: 91,744,546 (GRCm39) D301V probably damaging Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Tspan9 A G 6: 127,944,210 (GRCm39) V30A probably damaging Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T possibly 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
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'- CCCCACTCAGGTGCATATTTAC -3'
(R):5'- AAAGCCATTTACCTTTATCTGGGTC -3'

Sequencing Primer
(F):5'- CATTCTTCAAACTGTAGCGGTG -3'
(R):5'- TACCTTTATCTGGGTCCCCAAAAAG -3'
Posted On 2015-04-29