Incidental Mutation 'R3109:Rbl2'
ID 263703
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 040583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3109 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 91796685-91850472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91828863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 588 (I588N)
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: I631N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: I631N

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 noncoding transcript
Transcript: ENSMUST00000144190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145246
Predicted Effect probably benign
Transcript: ENSMUST00000209518
AA Change: I621N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211136
AA Change: I588N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A 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
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
R6526:Rbl2 UTSW 8 91,823,467 (GRCm39) missense probably benign 0.04
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'- CTGGCTCGGACATAGTCTTC -3'
(R):5'- CACAGAATACTCTTTGCTCTGCATAG -3'

Sequencing Primer
(F):5'- AACTCGCTCTGTAGACCAGG -3'
(R):5'- TGCTCTGCATAGCCTATTAATTTTAC -3'
Posted On 2015-02-05