Incidental Mutation 'R6526:Rbl2'
ID 521874
Institutional Source Beutler Lab
Gene Symbol Rbl2
Ensembl Gene ENSMUSG00000031666
Gene Name RB transcriptional corepressor like 2
Synonyms p130, Rb2, retinoblastoma-like 2
MMRRC Submission 044652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 91796685-91850472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91823467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 465 (Q465L)
Ref Sequence ENSEMBL: ENSMUSP00000147579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034091] [ENSMUST00000209518] [ENSMUST00000211136]
AlphaFold Q64700
Predicted Effect probably benign
Transcript: ENSMUST00000034091
AA Change: Q508L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: Q508L

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
CYCLIN 44 131 5.81e-1 SMART
DUF3452 94 236 2.36e-77 SMART
low complexity region 301 313 N/A INTRINSIC
RB_A 414 606 3.42e-106 SMART
low complexity region 722 733 N/A INTRINSIC
low complexity region 758 771 N/A INTRINSIC
low complexity region 776 789 N/A INTRINSIC
low complexity region 804 818 N/A INTRINSIC
CYCLIN 845 1008 2.86e-6 SMART
Rb_C 1019 1135 5.42e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209518
AA Change: Q498L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000211136
AA Change: Q465L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.0863 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
MGI Phenotype PHENOTYPE: Nullizygous mice generally show no overt phenotype. Homozygotes for a null allele show strain-dependent embryonic lethality and growth arrest associated with altered apoptosis and cell proliferation, impaired neurogenesis and myogenesis, failed embryo turning and heart looping, and thin myocardium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
Atp2b4 A G 1: 133,639,467 (GRCm39) S1136P probably damaging Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elf5 A G 2: 103,269,578 (GRCm39) Y53C probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Kdm2b C A 5: 123,099,532 (GRCm39) V136F probably damaging Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pitx2 T C 3: 129,008,432 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Prkch T C 12: 73,749,549 (GRCm39) Y381H probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Uqcc1 A G 2: 155,693,343 (GRCm39) F197S probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign Het
Other mutations in Rbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Rbl2 APN 8 91,812,073 (GRCm39) missense probably damaging 1.00
IGL01084:Rbl2 APN 8 91,848,941 (GRCm39) missense probably damaging 0.99
IGL01317:Rbl2 APN 8 91,826,685 (GRCm39) missense probably damaging 1.00
IGL01637:Rbl2 APN 8 91,833,066 (GRCm39) missense probably benign
IGL01843:Rbl2 APN 8 91,816,844 (GRCm39) missense probably benign 0.11
IGL01884:Rbl2 APN 8 91,823,464 (GRCm39) missense probably damaging 1.00
IGL02071:Rbl2 APN 8 91,828,826 (GRCm39) missense probably damaging 1.00
IGL02588:Rbl2 APN 8 91,813,712 (GRCm39) missense probably damaging 0.99
IGL03027:Rbl2 APN 8 91,805,534 (GRCm39) missense possibly damaging 0.92
IGL03162:Rbl2 APN 8 91,812,330 (GRCm39) missense probably benign 0.01
IGL03200:Rbl2 APN 8 91,823,395 (GRCm39) missense probably benign 0.00
R0165:Rbl2 UTSW 8 91,800,804 (GRCm39) missense probably damaging 1.00
R0238:Rbl2 UTSW 8 91,833,135 (GRCm39) missense probably damaging 0.99
R0238:Rbl2 UTSW 8 91,833,135 (GRCm39) missense probably damaging 0.99
R0317:Rbl2 UTSW 8 91,813,772 (GRCm39) missense probably benign 0.00
R0539:Rbl2 UTSW 8 91,839,133 (GRCm39) splice site probably benign
R1532:Rbl2 UTSW 8 91,833,045 (GRCm39) missense probably benign 0.01
R1696:Rbl2 UTSW 8 91,812,352 (GRCm39) missense probably benign 0.12
R1852:Rbl2 UTSW 8 91,822,191 (GRCm39) missense possibly damaging 0.84
R1866:Rbl2 UTSW 8 91,839,157 (GRCm39) missense probably benign 0.00
R1975:Rbl2 UTSW 8 91,812,090 (GRCm39) missense probably benign
R2062:Rbl2 UTSW 8 91,833,367 (GRCm39) missense probably damaging 1.00
R2180:Rbl2 UTSW 8 91,816,683 (GRCm39) missense possibly damaging 0.51
R2423:Rbl2 UTSW 8 91,813,774 (GRCm39) missense probably benign 0.34
R3109:Rbl2 UTSW 8 91,828,863 (GRCm39) missense probably benign
R4356:Rbl2 UTSW 8 91,833,735 (GRCm39) missense probably damaging 0.97
R4692:Rbl2 UTSW 8 91,849,047 (GRCm39) missense probably damaging 1.00
R4707:Rbl2 UTSW 8 91,812,196 (GRCm39) missense probably damaging 1.00
R4784:Rbl2 UTSW 8 91,812,196 (GRCm39) missense probably damaging 1.00
R5084:Rbl2 UTSW 8 91,841,759 (GRCm39) missense probably benign 0.43
R5432:Rbl2 UTSW 8 91,828,911 (GRCm39) missense probably benign 0.01
R5493:Rbl2 UTSW 8 91,842,447 (GRCm39) missense probably damaging 1.00
R5546:Rbl2 UTSW 8 91,805,560 (GRCm39) missense probably benign 0.00
R5918:Rbl2 UTSW 8 91,816,758 (GRCm39) missense probably benign 0.02
R6186:Rbl2 UTSW 8 91,833,358 (GRCm39) missense probably damaging 1.00
R6257:Rbl2 UTSW 8 91,842,306 (GRCm39) missense probably damaging 1.00
R6546:Rbl2 UTSW 8 91,796,998 (GRCm39) missense probably benign
R6714:Rbl2 UTSW 8 91,833,415 (GRCm39) missense possibly damaging 0.91
R7214:Rbl2 UTSW 8 91,810,057 (GRCm39) critical splice donor site probably null
R7286:Rbl2 UTSW 8 91,828,922 (GRCm39) nonsense probably null
R7290:Rbl2 UTSW 8 91,841,669 (GRCm39) missense probably benign 0.33
R7315:Rbl2 UTSW 8 91,802,640 (GRCm39) missense probably damaging 0.96
R7524:Rbl2 UTSW 8 91,841,821 (GRCm39) missense probably benign
R8060:Rbl2 UTSW 8 91,823,497 (GRCm39) critical splice donor site probably null
R8071:Rbl2 UTSW 8 91,840,617 (GRCm39) missense probably damaging 1.00
R8154:Rbl2 UTSW 8 91,833,825 (GRCm39) missense probably damaging 1.00
R8302:Rbl2 UTSW 8 91,812,073 (GRCm39) missense probably damaging 1.00
R8344:Rbl2 UTSW 8 91,842,387 (GRCm39) missense possibly damaging 0.89
R8724:Rbl2 UTSW 8 91,841,837 (GRCm39) missense possibly damaging 0.54
R8822:Rbl2 UTSW 8 91,833,346 (GRCm39) missense possibly damaging 0.95
R9186:Rbl2 UTSW 8 91,828,006 (GRCm39) missense probably damaging 1.00
R9729:Rbl2 UTSW 8 91,805,527 (GRCm39) missense probably damaging 0.97
R9801:Rbl2 UTSW 8 91,822,229 (GRCm39) missense probably benign 0.00
X0023:Rbl2 UTSW 8 91,816,707 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTTAACATGAAAGACCTGGAGC -3'
(R):5'- AGGGCTCCACTACACAGTTC -3'

Sequencing Primer
(F):5'- GAAATGGCTTTTCTTCCAGAGGACC -3'
(R):5'- ATTCCTAAGGTGCACACC -3'
Posted On 2018-06-06