Incidental Mutation 'R6823:Rarb'
ID 537764
Institutional Source Beutler Lab
Gene Symbol Rarb
Ensembl Gene ENSMUSG00000017491
Gene Name retinoic acid receptor, beta
Synonyms RARbeta2, RAR beta 2, Hap
MMRRC Submission 044935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6823 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 5650540-6038924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16443824 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 155 (R155G)
Ref Sequence ENSEMBL: ENSMUSP00000067694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063750] [ENSMUST00000223576] [ENSMUST00000225594] [ENSMUST00000225921]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000063750
AA Change: R155G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491
AA Change: R155G

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: ENSMUST00000225594
Predicted Effect possibly damaging
Transcript: ENSMUST00000225921
AA Change: R155G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1647 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (81/83)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,626,735 (GRCm39) probably null Het
Adgrv1 A G 13: 81,705,200 (GRCm39) F1537L probably damaging Het
Aggf1 T C 13: 95,501,231 (GRCm39) S384G probably benign Het
Anxa8 A T 14: 33,816,722 (GRCm39) D204V possibly damaging Het
Asap3 A T 4: 135,954,883 (GRCm39) E71V possibly damaging Het
BC024139 T C 15: 76,003,946 (GRCm39) *773W probably null Het
Bckdhb T C 9: 83,835,814 (GRCm39) V106A possibly damaging Het
Cep250 A G 2: 155,823,379 (GRCm39) D1010G probably benign Het
Chrd T A 16: 20,553,486 (GRCm39) L243Q probably damaging Het
Cib2 G T 9: 54,457,175 (GRCm39) L30I possibly damaging Het
Cpsf7 T A 19: 10,510,248 (GRCm39) L113* probably null Het
Cubn T A 2: 13,449,840 (GRCm39) I895L probably benign Het
Cyp24a1 C A 2: 170,329,899 (GRCm39) R351I probably benign Het
Cyp2a12 A T 7: 26,733,581 (GRCm39) D320V possibly damaging Het
Dact1 C G 12: 71,364,713 (GRCm39) P498R probably benign Het
Diaph1 T A 18: 38,009,436 (GRCm39) probably null Het
Dnah7a A T 1: 53,495,863 (GRCm39) I3198N probably benign Het
Dop1b A T 16: 93,552,373 (GRCm39) I271F possibly damaging Het
Elp1 A G 4: 56,787,939 (GRCm39) Y331H probably damaging Het
Erich3 C A 3: 154,433,074 (GRCm39) F349L probably damaging Het
Fam187b G C 7: 30,688,715 (GRCm39) V358L probably benign Het
Fat4 T A 3: 39,038,088 (GRCm39) H3913Q probably benign Het
Fbxw7 G C 3: 84,865,934 (GRCm39) E118D probably benign Het
Fgf1 A G 18: 38,980,161 (GRCm39) I71T probably damaging Het
Fryl A T 5: 73,222,560 (GRCm39) I2007K probably damaging Het
Galnt2 C G 8: 125,050,750 (GRCm39) P130A probably benign Het
H1f10 G A 6: 87,958,284 (GRCm39) R19C probably damaging Het
Hmga2 A C 10: 120,311,929 (GRCm39) S14A possibly damaging Het
Hoxb4 C T 11: 96,209,480 (GRCm39) probably benign Het
Hr A T 14: 70,802,814 (GRCm39) I756F probably damaging Het
Hspa1b A T 17: 35,177,161 (GRCm39) S275T probably benign Het
Kcnh1 T C 1: 192,187,597 (GRCm39) *99R probably null Het
Kit C A 5: 75,813,309 (GRCm39) L864I probably benign Het
Klk14 A T 7: 43,343,880 (GRCm39) K196* probably null Het
Lmod1 A G 1: 135,252,905 (GRCm39) N53S probably damaging Het
Myh13 T C 11: 67,246,984 (GRCm39) M1235T probably benign Het
Neurl3 T A 1: 36,307,785 (GRCm39) K175* probably null Het
Nlgn2 T A 11: 69,716,750 (GRCm39) K597M probably damaging Het
Npdc1 T C 2: 25,299,121 (GRCm39) M306T probably damaging Het
Obscn C T 11: 58,958,769 (GRCm39) probably null Het
Or1p1b T C 11: 74,130,522 (GRCm39) L44P probably damaging Het
Or52m2 G A 7: 102,263,693 (GRCm39) L168F probably damaging Het
Or8b49 T C 9: 38,506,201 (GRCm39) I228T possibly damaging Het
Pbrm1 A T 14: 30,806,747 (GRCm39) Y1042F probably damaging Het
Pclo T A 5: 14,727,921 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Phf12 C T 11: 77,913,337 (GRCm39) Q430* probably null Het
Plaat5 A T 19: 7,616,861 (GRCm39) probably benign Het
Pld3 C T 7: 27,235,322 (GRCm39) R302H probably damaging Het
Plekha5 T C 6: 140,471,584 (GRCm39) S112P probably benign Het
Pmfbp1 T A 8: 110,256,939 (GRCm39) S548T possibly damaging Het
Ppa1 A T 10: 61,503,382 (GRCm39) I220F probably damaging Het
Ppp2r3d A G 9: 124,439,078 (GRCm38) probably benign Het
Psmg2 A T 18: 67,781,927 (GRCm39) E164D possibly damaging Het
Rnf215 T C 11: 4,086,609 (GRCm39) L162S probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtkn2 G A 10: 67,862,462 (GRCm39) V330M probably damaging Het
Slc16a4 A T 3: 107,218,814 (GRCm39) I472F probably benign Het
Snx14 T C 9: 88,276,435 (GRCm39) N617D possibly damaging Het
Spire2 T C 8: 124,083,466 (GRCm39) V150A probably damaging Het
Sptbn1 C A 11: 30,064,787 (GRCm39) R1904M probably damaging Het
Swap70 A G 7: 109,880,510 (GRCm39) E575G possibly damaging Het
Tbxas1 A T 6: 38,896,087 (GRCm39) M1L possibly damaging Het
Tenm3 A T 8: 48,709,872 (GRCm39) V1688D probably damaging Het
Tgfbr3 A T 5: 107,297,780 (GRCm39) S207T probably damaging Het
Timm44 A G 8: 4,317,282 (GRCm39) F248L probably damaging Het
Tmem161a T C 8: 70,633,849 (GRCm39) L170P probably damaging Het
Tmem63a A T 1: 180,788,035 (GRCm39) Y263F possibly damaging Het
Tnfsf9 C A 17: 57,412,513 (GRCm39) L28I probably benign Het
Tph2 T A 10: 115,010,011 (GRCm39) N183I probably benign Het
Ttyh1 T C 7: 4,125,528 (GRCm39) I60T probably damaging Het
Ubn1 T G 16: 4,882,411 (GRCm39) S48A probably damaging Het
Ubr5 T C 15: 37,989,842 (GRCm39) N2019S probably benign Het
Wbp2 T C 11: 115,977,736 (GRCm39) N6D probably benign Het
Wdr59 T A 8: 112,185,672 (GRCm39) E810V possibly damaging Het
Wiz T C 17: 32,579,395 (GRCm39) D220G probably damaging Het
Yipf7 A G 5: 69,674,413 (GRCm39) L244P probably damaging Het
Zdhhc17 T C 10: 110,790,972 (GRCm39) T366A possibly damaging Het
Zfp169 A T 13: 48,644,472 (GRCm39) probably benign Het
Zfp707 C T 15: 75,841,572 (GRCm39) probably benign Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R 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
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'- CCAGGCACAAGAAACTGTATGG -3'
(R):5'- CACTGCACACTAGGAAAGGCAG -3'

Sequencing Primer
(F):5'- TGTGCACAAGGGCCAGTG -3'
(R):5'- AAAGGCAGGCATGGTTCCTTTC -3'
Posted On 2018-10-18