Incidental Mutation 'R9011:Rarb'
ID 685655
Institutional Source Beutler Lab
Gene Symbol Rarb
Ensembl Gene ENSMUSG00000017491
Gene Name retinoic acid receptor, beta
Synonyms RARbeta2, RAR beta 2, Hap
MMRRC Submission 068841-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9011 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 5650540-6038924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16435140 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 302 (V302A)
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: V302A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491
AA Change: V302A

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 benign
Transcript: ENSMUST00000225921
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 70,999,734 (GRCm39) T177A probably benign Het
Adgrb2 G A 4: 129,916,111 (GRCm39) D1468N probably damaging Het
Aldh16a1 A G 7: 44,794,951 (GRCm39) F506S probably damaging Het
Ankfn1 A T 11: 89,417,444 (GRCm39) M56K probably benign Het
Atxn7l2 T C 3: 108,114,756 (GRCm39) S97G probably benign Het
Cacna1g C T 11: 94,306,663 (GRCm39) G1905D probably benign Het
Ccdc192 A T 18: 57,800,376 (GRCm39) I176F possibly damaging Het
Ccne1 A T 7: 37,806,085 (GRCm39) M13K probably benign Het
Chil3 A T 3: 106,057,031 (GRCm39) Y304* probably null Het
Chst15 A G 7: 131,872,246 (GRCm39) F12L probably benign Het
Cldn23 T A 8: 36,292,826 (GRCm39) I221F probably damaging Het
Col16a1 T C 4: 129,946,652 (GRCm39) F92L unknown Het
Col6a3 A T 1: 90,710,057 (GRCm39) probably benign Het
Cyp2w1 T A 5: 139,340,314 (GRCm39) V199E possibly damaging Het
Dmxl1 A G 18: 49,997,240 (GRCm39) Y512C probably damaging Het
Dop1a A T 9: 86,397,396 (GRCm39) H900L probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Eif3l T G 15: 78,973,725 (GRCm39) M380R possibly damaging Het
Fer1l5 A T 1: 36,441,601 (GRCm39) K605N probably damaging Het
Fgfbp1 T G 5: 44,136,627 (GRCm39) N222H probably benign Het
Flcn A G 11: 59,690,233 (GRCm39) L273P possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gabpa A G 16: 84,638,209 (GRCm39) probably benign Het
Garin4 A C 1: 190,895,258 (GRCm39) S462A probably benign Het
Gfi1 A G 5: 107,873,425 (GRCm39) probably null Het
Ift57 A G 16: 49,579,777 (GRCm39) Q316R probably benign Het
Itga11 T C 9: 62,662,909 (GRCm39) F542L probably benign Het
Kif28 G C 1: 179,529,984 (GRCm39) L726V possibly damaging Het
Krt90 A G 15: 101,471,235 (GRCm39) I9T probably benign Het
Lefty1 A T 1: 180,765,241 (GRCm39) M270L probably benign Het
Mipol1 A T 12: 57,503,865 (GRCm39) E344D probably benign Het
Mon2 A T 10: 122,862,213 (GRCm39) M737K possibly damaging Het
Mrpl14 A G 17: 46,009,330 (GRCm39) N143S probably benign Het
Nelfcd T A 2: 174,268,717 (GRCm39) H589Q probably benign Het
Npepps T C 11: 97,131,757 (GRCm39) M366V probably damaging Het
Or5b12 A T 19: 12,897,479 (GRCm39) S65T probably damaging Het
Platr25 T A 13: 62,848,280 (GRCm39) H194L probably damaging Het
Plekhg4 T C 8: 106,102,284 (GRCm39) I127T probably benign Het
Ralgapa1 A T 12: 55,652,314 (GRCm39) probably benign Het
Rc3h1 A C 1: 160,792,673 (GRCm39) T1037P probably damaging Het
Rnaset2a G A 17: 8,356,760 (GRCm39) P102S probably damaging Het
Scn10a A C 9: 119,459,160 (GRCm39) S1166R probably damaging Het
Scn3a A G 2: 65,352,170 (GRCm39) M380T possibly damaging Het
Serpinb13 A G 1: 106,923,519 (GRCm39) I75V probably benign Het
Slc35f5 G A 1: 125,490,050 (GRCm39) A27T probably benign Het
Slc45a3 G A 1: 131,905,714 (GRCm39) V246I probably benign Het
Slc7a14 G A 3: 31,278,345 (GRCm39) T420I probably damaging Het
Slc9a9 A G 9: 94,818,493 (GRCm39) T296A probably benign Het
Smyd2 G A 1: 189,628,833 (GRCm39) H157Y probably damaging Het
Spata32 T A 11: 103,100,677 (GRCm39) H30L probably benign Het
Srarp T C 4: 141,160,344 (GRCm39) E163G possibly damaging Het
Tcstv2a A G 13: 120,725,746 (GRCm39) T137A probably damaging Het
Tmed8 A G 12: 87,220,938 (GRCm39) I216T probably damaging Het
Tnni3k A T 3: 154,562,186 (GRCm39) L697Q probably damaging Het
Tra2b G A 16: 22,065,940 (GRCm39) R286C unknown Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Ttn T C 2: 76,540,506 (GRCm39) D34160G possibly damaging Het
Umad1 T A 6: 8,373,931 (GRCm39) C36* probably null Het
Ush2a A T 1: 188,638,676 (GRCm39) T4029S probably damaging Het
Usp9y C T Y: 1,316,978 (GRCm39) S1857N probably benign Het
Vwa3b A G 1: 37,154,767 (GRCm39) N517S probably damaging Het
Zfp583 G A 7: 6,319,627 (GRCm39) P462S 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
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
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'- TTGGCAGAAGGAGCTCAAAC -3'
(R):5'- GGCCGTCATAAATGATGCAG -3'

Sequencing Primer
(F):5'- GAAGTACAACGCCTTTCTCATG -3'
(R):5'- TGCAGCAAGTGTACATGCATAC -3'
Posted On 2021-10-11