Incidental Mutation 'IGL01483:Rarb'
ID88705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rarb
Ensembl Gene ENSMUSG00000017491
Gene Nameretinoic acid receptor, beta
SynonymsRAR beta 2, Hap, RARbeta2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01483
Quality Score
Status
Chromosome14
Chromosomal Location16430839-16819156 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 16432273 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629] [ENSMUST00000063750] [ENSMUST00000223576] [ENSMUST00000225921]
Predicted Effect probably benign
Transcript: ENSMUST00000017629
SMART Domains Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
Blast:TOP2c 32 70 7e-10 BLAST
HATPase_c 85 234 1.91e-2 SMART
TOP2c 89 679 N/A SMART
TOP4c 702 1175 2.55e-230 SMART
low complexity region 1201 1215 N/A INTRINSIC
low complexity region 1287 1299 N/A INTRINSIC
low complexity region 1324 1336 N/A INTRINSIC
low complexity region 1360 1382 N/A INTRINSIC
Pfam:DTHCT 1495 1597 4.6e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063750
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491

DomainStartEndE-ValueType
low complexity region 52 75 N/A INTRINSIC
ZnF_C4 78 149 3.77e-40 SMART
HOLI 223 381 1.72e-34 SMART
low complexity region 428 445 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163032
Predicted Effect probably benign
Transcript: ENSMUST00000223576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224460
Predicted Effect probably benign
Transcript: ENSMUST00000225921
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, but are otherwise normal. Rarb/Rara double knockouts exhibit impaired vitamin A signaling and develop urogenital malformations, including renal hypoplasia and hydronephrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Rarb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Rarb APN 14 16443791 nonsense probably null
IGL01591:Rarb APN 14 16434207 missense possibly damaging 0.93
IGL01769:Rarb APN 14 16443760 missense probably damaging 0.97
IGL01782:Rarb APN 14 16434180 missense probably damaging 1.00
IGL01866:Rarb APN 14 16443751 missense probably benign 0.17
IGL03299:Rarb APN 14 16434168 missense probably damaging 1.00
IGL03134:Rarb UTSW 14 16436910 missense probably damaging 0.99
R0055:Rarb UTSW 14 16509066 missense probably damaging 1.00
R0055:Rarb UTSW 14 16509066 missense probably damaging 1.00
R0849:Rarb UTSW 14 16434293 missense probably damaging 1.00
R1067:Rarb UTSW 14 16436769 missense probably damaging 0.98
R1314:Rarb UTSW 14 16508932 critical splice donor site probably null
R1416:Rarb UTSW 14 16435177 missense possibly damaging 0.82
R2894:Rarb UTSW 14 16435146 missense probably damaging 1.00
R4637:Rarb UTSW 14 16574875 missense possibly damaging 0.51
R4950:Rarb UTSW 14 16432085 unclassified probably benign
R5420:Rarb UTSW 14 16434249 missense possibly damaging 0.89
R5456:Rarb UTSW 14 16436843 missense probably damaging 1.00
R5635:Rarb UTSW 14 16443788 missense probably damaging 1.00
R5689:Rarb UTSW 14 16434177 missense probably damaging 1.00
R5708:Rarb UTSW 14 16548545 missense probably damaging 0.99
R5819:Rarb UTSW 14 16443820 missense possibly damaging 0.68
R5935:Rarb UTSW 14 16434264 missense probably damaging 1.00
R6264:Rarb UTSW 14 16818819 missense probably benign 0.31
R6823:Rarb UTSW 14 16443824 missense probably damaging 1.00
R6975:Rarb UTSW 14 16574942 missense possibly damaging 0.92
R7295:Rarb UTSW 14 16508932 critical splice donor site probably null
R7402:Rarb UTSW 14 16548419 missense probably damaging 1.00
R7849:Rarb UTSW 14 16548473 missense probably damaging 1.00
R8471:Rarb UTSW 14 16548456 unclassified probably benign
X0065:Rarb UTSW 14 16434303 missense possibly damaging 0.89
Z1177:Rarb UTSW 14 16818725 missense possibly damaging 0.50
Posted On2013-11-18