Incidental Mutation 'R0849:Rarb'
ID 77089
Institutional Source Beutler Lab
Gene Symbol Rarb
Ensembl Gene ENSMUSG00000017491
Gene Name retinoic acid receptor, beta
Synonyms RARbeta2, RAR beta 2, Hap
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0849 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 5650540-6038924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16434293 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 295 (V295A)
Ref Sequence ENSEMBL: ENSMUSP00000152980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629] [ENSMUST00000063750] [ENSMUST00000223576] [ENSMUST00000225921]
AlphaFold no structure available at present
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 possibly damaging
Transcript: ENSMUST00000063750
AA Change: V341A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491
AA Change: V341A

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 probably benign
Transcript: ENSMUST00000223576
Predicted Effect probably damaging
Transcript: ENSMUST00000225921
AA Change: V295A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
B3gnt6 C A 7: 97,843,950 (GRCm39) L3F probably benign Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Dstn G A 2: 143,780,455 (GRCm39) G52S probably benign Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hs3st2 A G 7: 121,100,255 (GRCm39) E367G possibly damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Inhca A C 9: 103,140,256 (GRCm39) Y488D possibly damaging Het
Irf2bp1 T C 7: 18,738,659 (GRCm39) S100P possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or12e8 G T 2: 87,188,609 (GRCm39) V274L probably benign Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C probably damaging Het
Other mutations in Rarb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Rarb APN 14 16,443,791 (GRCm38) nonsense probably null
IGL01483:Rarb APN 14 16,432,273 (GRCm38) splice site probably benign
IGL01591:Rarb APN 14 16,434,207 (GRCm38) missense possibly damaging 0.93
IGL01769:Rarb APN 14 16,443,760 (GRCm38) missense probably damaging 0.97
IGL01782:Rarb APN 14 16,434,180 (GRCm38) missense probably damaging 1.00
IGL01866:Rarb APN 14 16,443,751 (GRCm38) missense probably benign 0.17
IGL03299:Rarb APN 14 16,434,168 (GRCm38) missense probably damaging 1.00
IGL03134:Rarb UTSW 14 16,436,910 (GRCm38) missense probably damaging 0.99
R0055:Rarb UTSW 14 16,509,066 (GRCm38) missense probably damaging 1.00
R0055:Rarb UTSW 14 16,509,066 (GRCm38) missense probably damaging 1.00
R1067:Rarb UTSW 14 16,436,769 (GRCm38) missense probably damaging 0.98
R1314:Rarb UTSW 14 16,508,932 (GRCm38) critical splice donor site probably null
R1416:Rarb UTSW 14 16,435,177 (GRCm38) missense possibly damaging 0.82
R2894:Rarb UTSW 14 16,435,146 (GRCm38) missense probably damaging 1.00
R4637:Rarb UTSW 14 16,574,875 (GRCm38) missense possibly damaging 0.51
R4950:Rarb UTSW 14 16,432,085 (GRCm38) unclassified probably benign
R5420:Rarb UTSW 14 16,434,249 (GRCm38) missense possibly damaging 0.89
R5456:Rarb UTSW 14 16,436,843 (GRCm38) missense probably damaging 1.00
R5635:Rarb UTSW 14 16,443,788 (GRCm38) missense probably damaging 1.00
R5689:Rarb UTSW 14 16,434,177 (GRCm38) missense probably damaging 1.00
R5708:Rarb UTSW 14 16,548,545 (GRCm38) missense probably damaging 0.99
R5819:Rarb UTSW 14 16,443,820 (GRCm38) missense possibly damaging 0.68
R5935:Rarb UTSW 14 16,434,264 (GRCm38) missense probably damaging 1.00
R6264:Rarb UTSW 14 16,818,819 (GRCm38) missense probably benign 0.31
R6823:Rarb UTSW 14 16,443,824 (GRCm38) missense probably damaging 1.00
R6975:Rarb UTSW 14 16,574,942 (GRCm38) missense possibly damaging 0.92
R7295:Rarb UTSW 14 16,508,932 (GRCm38) critical splice donor site probably null
R7402:Rarb UTSW 14 16,548,419 (GRCm38) missense probably damaging 1.00
R7849:Rarb UTSW 14 16,548,473 (GRCm38) missense probably damaging 1.00
R8471:Rarb UTSW 14 16,548,456 (GRCm38) unclassified probably benign
R8833:Rarb UTSW 14 16,819,015 (GRCm38) unclassified probably benign
R8835:Rarb UTSW 14 16,575,011 (GRCm38) missense probably benign 0.23
R8896:Rarb UTSW 14 16,436,804 (GRCm38) missense probably damaging 1.00
R9011:Rarb UTSW 14 16,435,140 (GRCm38) missense probably damaging 0.98
R9090:Rarb UTSW 14 16,435,235 (GRCm38) nonsense probably null
R9184:Rarb UTSW 14 16,818,882 (GRCm38) start gained probably benign
R9184:Rarb UTSW 14 16,818,881 (GRCm38) start gained probably benign
R9271:Rarb UTSW 14 16,435,235 (GRCm38) nonsense probably null
R9574:Rarb UTSW 14 16,574,858 (GRCm38) missense probably damaging 0.96
X0065:Rarb UTSW 14 16,434,303 (GRCm38) missense possibly damaging 0.89
Z1177:Rarb UTSW 14 16,818,725 (GRCm38) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AGAGTTGCTCTTCTACCCAGCCATC -3'
(R):5'- TACAGGCTGCCCAGGGTTCTTTTG -3'

Sequencing Primer
(F):5'- GTGCTCAGACAAGGCTAATTC -3'
(R):5'- CTTACTAAGGGGGCATCTTCAAG -3'
Posted On 2013-10-16