Incidental Mutation 'R1067:Rarb'
ID 86062
Institutional Source Beutler Lab
Gene Symbol Rarb
Ensembl Gene ENSMUSG00000017491
Gene Name retinoic acid receptor, beta
Synonyms RARbeta2, RAR beta 2, Hap
MMRRC Submission 039153-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1067 (G1)
Quality Score 209
Status Validated
Chromosome 14
Chromosomal Location 5650540-6038924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16436769 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 251 (I251V)
Ref Sequence ENSEMBL: ENSMUSP00000067694 (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 probably damaging
Transcript: ENSMUST00000063750
AA Change: I251V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491
AA Change: I251V

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: I251V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.2494 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,957,018 (GRCm39) probably benign Het
Adam24 T A 8: 41,133,793 (GRCm39) C420* probably null Het
Atp12a G A 14: 56,610,893 (GRCm39) G346S probably damaging Het
Bpifa3 A T 2: 153,979,529 (GRCm39) Q218L probably damaging Het
Cntrl T C 2: 35,039,034 (GRCm39) probably benign Het
Defb41 A G 1: 18,335,248 (GRCm39) probably null Het
Edc4 C A 8: 106,617,637 (GRCm39) T1094K probably damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
G3bp2 A T 5: 92,211,187 (GRCm39) probably benign Het
Herc6 T A 6: 57,639,204 (GRCm39) N888K probably damaging Het
Iqgap1 G A 7: 80,373,576 (GRCm39) T1471M probably benign Het
Kpna6 G T 4: 129,541,896 (GRCm39) H500Q probably benign Het
Krt78 G A 15: 101,854,896 (GRCm39) Q972* probably null Het
Krtap9-5 T A 11: 99,839,589 (GRCm39) C97S unknown Het
Mapk10 T A 5: 103,139,723 (GRCm39) probably benign Het
Mybphl A G 3: 108,272,319 (GRCm39) T3A probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Oca2 A G 7: 55,966,141 (GRCm39) I378V probably damaging Het
Or7a39 T A 10: 78,715,517 (GRCm39) C170* probably null Het
Pax6 C A 2: 105,510,646 (GRCm39) Q2K probably benign Het
Plxna2 C A 1: 194,462,818 (GRCm39) probably null Het
Ppp1r13b A G 12: 111,801,550 (GRCm39) L378P probably damaging Het
Prkdc G A 16: 15,570,646 (GRCm39) E2310K probably damaging Het
Pth2r G A 1: 65,411,507 (GRCm39) G348E possibly damaging Het
Rasa2 A G 9: 96,434,376 (GRCm39) L637P probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Syt1 A T 10: 108,472,523 (GRCm39) D120E probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmbim1 A G 1: 74,329,905 (GRCm39) probably benign Het
Tnfrsf25 G A 4: 152,202,745 (GRCm39) C191Y probably damaging Het
Tnn T C 1: 159,952,968 (GRCm39) K691E probably damaging Het
Trim7 T A 11: 48,728,646 (GRCm39) V98E probably damaging Het
Tspan3 A G 9: 56,068,104 (GRCm39) F15L probably benign Het
Uap1l1 A G 2: 25,252,759 (GRCm39) L427S probably damaging Het
Upf1 A C 8: 70,791,053 (GRCm39) M574R probably damaging Het
Ush2a T A 1: 188,282,404 (GRCm39) V1931E probably benign Het
Zfp3 T C 11: 70,663,411 (GRCm39) S457P 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
R0849:Rarb UTSW 14 16,434,293 (GRCm38) missense probably damaging 1.00
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'- ACTAGGTAGCAGGCCATCACTGAAG -3'
(R):5'- AATCCGAGGTCACTCCGAGAAAGC -3'

Sequencing Primer
(F):5'- TGGTCTCCTCAGAAGATCCTAGAAG -3'
(R):5'- ATGTCCTGACACCATGCTG -3'
Posted On 2013-11-18