Incidental Mutation 'R6714:Rbl2'
ID 529254
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 044832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6714 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 91796685-91850472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91833415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 730 (I730N)
Ref Sequence ENSEMBL: ENSMUSP00000147579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034091] [ENSMUST00000120426] [ENSMUST00000209518] [ENSMUST00000211136]
AlphaFold Q64700
Predicted Effect possibly damaging
Transcript: ENSMUST00000034091
AA Change: I773N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: I773N

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: ENSMUST00000120426
SMART Domains Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145246
Predicted Effect possibly damaging
Transcript: ENSMUST00000209518
AA Change: I763N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211136
AA Change: I730N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1261 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC061237 A T 14: 44,741,639 (GRCm39) R127S possibly damaging Het
Bub1 C A 2: 127,656,652 (GRCm39) M463I probably benign Het
Cdh23 T C 10: 60,167,609 (GRCm39) I1794V possibly damaging Het
Clspn C T 4: 126,459,561 (GRCm39) T320M probably damaging Het
Coch A C 12: 51,649,520 (GRCm39) D277A probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dnah7c A T 1: 46,779,966 (GRCm39) I3223F probably damaging Het
E2f6 G A 12: 16,869,003 (GRCm39) V109I probably damaging Het
Edem2 A T 2: 155,570,809 (GRCm39) probably null Het
Efcab8 A G 2: 153,631,130 (GRCm39) K187E probably damaging Het
Fam184a T C 10: 53,574,979 (GRCm39) N210S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,809,878 (GRCm39) I2066V probably benign Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gpc5 C T 14: 115,789,715 (GRCm39) Q530* probably null Het
Hmcn1 A T 1: 150,579,926 (GRCm39) I1937K probably damaging Het
Hpx G A 7: 105,244,302 (GRCm39) R269C probably damaging Het
Ice1 T C 13: 70,763,382 (GRCm39) probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,783,297 (GRCm39) T310A probably benign Het
Lrp4 G A 2: 91,306,710 (GRCm39) S341N possibly damaging Het
Map3k3 T C 11: 106,005,048 (GRCm39) V69A possibly damaging Het
Myh8 T C 11: 67,197,775 (GRCm39) Y1881H probably damaging Het
Nectin4 A T 1: 171,198,218 (GRCm39) probably benign Het
Nhsl1 G T 10: 18,400,459 (GRCm39) V562L possibly damaging Het
Or4k5 A T 14: 50,385,671 (GRCm39) I220K possibly damaging Het
Or6c205 T A 10: 129,086,809 (GRCm39) N135K possibly damaging Het
Pcdhga7 T A 18: 37,850,330 (GRCm39) V779E probably benign Het
Peg12 T A 7: 62,113,317 (GRCm39) H260L unknown Het
Qrfpr A T 3: 36,234,405 (GRCm39) M312K possibly damaging Het
Rbm39 G C 2: 156,003,538 (GRCm39) L281V possibly damaging Het
Setd1b A G 5: 123,295,654 (GRCm39) E1074G unknown Het
Sfr1 A G 19: 47,723,405 (GRCm39) D303G probably damaging Het
Slc7a12 T C 3: 14,546,380 (GRCm39) V175A probably benign Het
Slc8a1 A T 17: 81,715,678 (GRCm39) L785Q probably damaging Het
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spg11 T C 2: 121,926,212 (GRCm39) I694M probably damaging Het
Tasor2 A T 13: 3,644,189 (GRCm39) F143L probably benign Het
Trpc1 A T 9: 95,605,326 (GRCm39) L111Q probably damaging Het
Tti1 A G 2: 157,848,971 (GRCm39) V756A possibly damaging Het
Unc93a2 T G 17: 7,643,937 (GRCm39) E124A probably benign Het
Usp32 A T 11: 84,917,696 (GRCm39) I777N probably damaging Het
Zbtb8b C T 4: 129,326,776 (GRCm39) E97K probably damaging Het
Zfhx4 A G 3: 5,306,897 (GRCm39) D41G probably damaging Het
Zfp493 A T 13: 67,934,499 (GRCm39) S151C probably benign Het
Zfp503 T C 14: 22,035,825 (GRCm39) T364A probably benign Het
Zfp507 T C 7: 35,487,152 (GRCm39) K772R probably damaging Het
Zfp804b T A 5: 6,819,239 (GRCm39) M1275L probably benign Het
Zfp811 G A 17: 33,016,736 (GRCm39) H434Y probably damaging 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
R6526:Rbl2 UTSW 8 91,823,467 (GRCm39) missense probably benign 0.04
R6546:Rbl2 UTSW 8 91,796,998 (GRCm39) missense probably benign
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'- AGGGATTGCGTTCTCTGAC -3'
(R):5'- TAAGGAGCTAGTCTTCCGCG -3'

Sequencing Primer
(F):5'- CACCTAAGATTTGGAAAGTGCCAGTC -3'
(R):5'- CGGCCGGATACTGCTGC -3'
Posted On 2018-07-24