Incidental Mutation 'R7402:Rarb'
ID 574290
Institutional Source Beutler Lab
Gene Symbol Rarb
Ensembl Gene ENSMUSG00000017491
Gene Name retinoic acid receptor, beta
Synonyms RARbeta2, RAR beta 2, Hap
MMRRC Submission 045484-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7402 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 5650540-6038924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16548419 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 101 (C101R)
Ref Sequence ENSEMBL: ENSMUSP00000067694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063750] [ENSMUST00000223576] [ENSMUST00000223976] [ENSMUST00000225245] [ENSMUST00000225594] [ENSMUST00000225921]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000063750
AA Change: C101R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491
AA Change: C101R

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 silent
Transcript: ENSMUST00000223576
Predicted Effect probably damaging
Transcript: ENSMUST00000223976
AA Change: C135R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225245
Predicted Effect probably damaging
Transcript: ENSMUST00000225594
AA Change: C101R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225921
AA Change: C101R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G T 14: 118,943,487 (GRCm39) P12Q probably damaging Het
Acsf3 A G 8: 123,507,163 (GRCm39) Y152C probably damaging Het
Adam22 T A 5: 8,145,049 (GRCm39) Q803L possibly damaging Het
Adamtsl3 G A 7: 82,227,825 (GRCm39) V1337I probably damaging Het
Adra1b T C 11: 43,666,845 (GRCm39) D464G possibly damaging Het
Alpk3 T A 7: 80,726,660 (GRCm39) I115K probably benign Het
Amdhd2 A G 17: 24,380,657 (GRCm39) S96P Het
Ankib1 T G 5: 3,819,586 (GRCm39) D111A probably benign Het
Arhgef2 A G 3: 88,540,873 (GRCm39) D216G probably damaging Het
Astn1 A T 1: 158,380,425 (GRCm39) probably benign Het
Atosa C A 9: 74,913,668 (GRCm39) Y107* probably null Het
Atrn T A 2: 130,789,520 (GRCm39) W328R probably damaging Het
Atxn7 A T 14: 14,095,427 (GRCm38) H375L probably damaging Het
Btaf1 A T 19: 36,980,915 (GRCm39) N1579Y probably damaging Het
Cacna1b A T 2: 24,497,671 (GRCm39) L2079Q probably benign Het
Ccdc102a T C 8: 95,629,981 (GRCm39) K520R probably damaging Het
Cd2ap T C 17: 43,116,054 (GRCm39) H602R possibly damaging Het
Cdkn2aip A G 8: 48,164,408 (GRCm39) V435A possibly damaging Het
Cenpf A T 1: 189,391,575 (GRCm39) Y735* probably null Het
Cep350 T A 1: 155,803,961 (GRCm39) I1041L probably benign Het
Ckap4 A G 10: 84,363,863 (GRCm39) V400A probably damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Coq10b A C 1: 55,100,500 (GRCm39) K61N probably benign Het
Csmd2 G A 4: 128,215,889 (GRCm39) S548N Het
Csmd2 A C 4: 128,215,888 (GRCm39) S548R Het
Ctif A G 18: 75,744,807 (GRCm39) I99T probably benign Het
Ctns T G 11: 73,083,903 (GRCm39) T40P possibly damaging Het
Cyp11b1 C T 15: 74,712,674 (GRCm39) R129H probably damaging Het
Cyp2c68 A T 19: 39,729,318 (GRCm39) N56K probably benign Het
D6Wsu163e A G 6: 126,938,968 (GRCm39) K401R probably damaging Het
Dstn T A 2: 143,780,368 (GRCm39) C23S probably benign Het
Fam72a A T 1: 131,466,613 (GRCm39) E132D probably damaging Het
Fam72a G T 1: 131,466,614 (GRCm39) E133* probably null Het
Gbp8 T A 5: 105,179,161 (GRCm39) I113F probably damaging Het
Gm3095 A T 14: 15,170,332 (GRCm39) R60S possibly damaging Het
Gpa33 A T 1: 165,980,263 (GRCm39) M109L probably damaging Het
Grik2 A G 10: 49,411,493 (GRCm39) L215P probably damaging Het
Gucy2g A C 19: 55,194,725 (GRCm39) F897L probably damaging Het
Hinfp A G 9: 44,209,314 (GRCm39) L295P probably damaging Het
Ift122 T C 6: 115,871,283 (GRCm39) V526A probably benign Het
Ighv5-12 T C 12: 113,665,853 (GRCm39) T82A probably benign Het
Il18rap T A 1: 40,564,111 (GRCm39) S76R probably benign Het
Itga6 A T 2: 71,683,897 (GRCm39) N1045I probably benign Het
Kctd21 A T 7: 96,996,970 (GRCm39) I148F possibly damaging Het
Kif28 T A 1: 179,567,644 (GRCm39) H42L probably benign Het
Kmt2c A C 5: 25,600,418 (GRCm39) C326W probably damaging Het
Knl1 T A 2: 118,925,707 (GRCm39) L1912* probably null Het
Lrfn1 A T 7: 28,158,947 (GRCm39) I289F probably damaging Het
Lrriq1 T C 10: 103,057,185 (GRCm39) K205R possibly damaging Het
Mbd5 A T 2: 49,147,566 (GRCm39) N592I probably damaging Het
Mbl2 A G 19: 30,216,802 (GRCm39) N205D possibly damaging Het
Mcm4 C A 16: 15,455,042 (GRCm39) M1I probably null Het
Mgat4a T A 1: 37,493,865 (GRCm39) H327L probably damaging Het
Miox A G 15: 89,219,206 (GRCm39) D16G probably benign Het
Mvk C A 5: 114,594,039 (GRCm39) P298Q possibly damaging Het
Nol6 A G 4: 41,118,699 (GRCm39) L726P probably damaging Het
Nos1 T C 5: 118,087,880 (GRCm39) I1381T probably benign Het
Nup98 A T 7: 101,784,144 (GRCm39) S1063T probably benign Het
Obscn T G 11: 58,886,275 (GRCm39) M7862L unknown Het
Obsl1 T C 1: 75,464,348 (GRCm39) T1653A probably benign Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or4c105 G T 2: 88,647,687 (GRCm39) M57I probably damaging Het
Or8g53 T A 9: 39,683,260 (GRCm39) T279S probably benign Het
Or8u9 A G 2: 86,001,546 (GRCm39) I205T probably benign Het
Or9q2 C T 19: 13,772,358 (GRCm39) V206I probably damaging Het
Pcdhb20 A G 18: 37,638,005 (GRCm39) Y177C probably benign Het
Pcdhb3 A C 18: 37,434,657 (GRCm39) I208L probably benign Het
Phlpp1 G T 1: 106,317,420 (GRCm39) G1214W probably damaging Het
Ppp4r3a A T 12: 101,025,053 (GRCm39) S149T possibly damaging Het
Pxdn T C 12: 30,052,438 (GRCm39) C872R probably damaging Het
Rcor3 A C 1: 191,812,283 (GRCm39) V114G probably benign Het
Rnpepl1 A G 1: 92,847,372 (GRCm39) Q653R probably benign Het
Rpap2 T A 5: 107,768,324 (GRCm39) Y387* probably null Het
Rttn C T 18: 89,004,035 (GRCm39) T343M possibly damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Six5 T C 7: 18,828,968 (GRCm39) L136P probably damaging Het
Slc12a5 T A 2: 164,824,852 (GRCm39) M419K probably benign Het
Slc22a21 T C 11: 53,851,226 (GRCm39) M179V probably benign Het
Slc35a4 A G 18: 36,813,570 (GRCm39) D6G unknown Het
Spdye4c A T 2: 128,434,261 (GRCm39) M1L probably benign Het
Svep1 A T 4: 58,069,699 (GRCm39) C2696S possibly damaging Het
Tceanc2 T C 4: 107,004,893 (GRCm39) N85S probably benign Het
Teddm2 G C 1: 153,726,344 (GRCm39) L124V probably benign Het
Teddm2 A T 1: 153,726,343 (GRCm39) L124Q probably damaging Het
Tgfbr1 T A 4: 47,405,623 (GRCm39) W409R probably damaging Het
Tkt A G 14: 30,280,755 (GRCm39) D62G probably damaging Het
Tnrc6b T A 15: 80,768,501 (GRCm39) V1054D probably damaging Het
Trpm7 C A 2: 126,641,126 (GRCm39) L1564F probably damaging Het
Vmn1r43 A T 6: 89,846,803 (GRCm39) C228S probably benign Het
Vmn2r106 T C 17: 20,487,883 (GRCm39) R839G probably damaging Het
Vmn2r5 G A 3: 64,403,176 (GRCm39) T523I probably benign Het
Vwa3b C T 1: 37,153,678 (GRCm39) Q507* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfp281 T G 1: 136,553,190 (GRCm39) L56R probably damaging Het
Zfp407 G A 18: 84,579,661 (GRCm39) T484I probably benign Het
Zfp451 T C 1: 33,852,843 (GRCm39) T24A probably benign Het
Zfp607b T A 7: 27,392,919 (GRCm39) F16I probably damaging Het
Zfp638 T A 6: 83,905,670 (GRCm39) V41E possibly 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
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'- AGGCCTAGTAATGTTTGCCC -3'
(R):5'- TTGGAATTGACTGGGGAAAACC -3'

Sequencing Primer
(F):5'- AGTAATGTTTGCCCTTGGTCAC -3'
(R):5'- TTGACTGGGGAAAACCTAAAGAAAC -3'
Posted On 2019-09-13