Incidental Mutation 'R6546:Rbl2'
ID 521202
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 045325-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6546 (G1)
Quality Score 207.009
Status Validated
Chromosome 8
Chromosomal Location 91796685-91850472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91796998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 65 (S65R)
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: S65R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: S65R

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: ENSMUST00000141351
Predicted Effect probably benign
Transcript: ENSMUST00000209518
AA Change: S65R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210533
Predicted Effect probably benign
Transcript: ENSMUST00000211136
AA Change: S65R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 T A 6: 34,776,234 (GRCm39) L242M probably damaging Het
Atad2b A T 12: 5,040,949 (GRCm39) H206L probably damaging Het
Bmp2k A G 5: 97,235,937 (GRCm39) Q1120R probably benign Het
Cdk18 G A 1: 132,050,088 (GRCm39) T29I probably damaging Het
Chrna3 T A 9: 54,923,185 (GRCm39) I208F probably damaging Het
Dhrs1 G A 14: 55,978,729 (GRCm39) P140S possibly damaging Het
Dnah14 C T 1: 181,566,552 (GRCm39) R2775C probably damaging Het
Fnip1 T G 11: 54,393,437 (GRCm39) N600K probably benign Het
Garin5b T C 7: 4,761,464 (GRCm39) D416G probably benign Het
Jmjd6 T C 11: 116,733,326 (GRCm39) Y117C probably damaging Het
Kbtbd4 T A 2: 90,739,635 (GRCm39) V340E probably damaging Het
Kif26b T C 1: 178,755,871 (GRCm39) V1995A probably damaging Het
Krt10 T C 11: 99,278,221 (GRCm39) probably null Het
Macf1 T C 4: 123,326,074 (GRCm39) D3022G probably benign Het
Map3k13 C T 16: 21,740,527 (GRCm39) T618I probably benign Het
Mat1a G A 14: 40,843,379 (GRCm39) V302M probably damaging Het
Med13l T C 5: 118,859,539 (GRCm39) F242S probably damaging Het
Npffr2 A T 5: 89,730,871 (GRCm39) K267M probably damaging Het
Nup58 A T 14: 60,460,672 (GRCm39) probably null Het
Papss2 A G 19: 32,640,548 (GRCm39) Y440C possibly damaging Het
Ppil4 T A 10: 7,674,186 (GRCm39) I110N probably damaging Het
Qrfpr G A 3: 36,234,414 (GRCm39) T309I probably damaging Het
Rchy1 G A 5: 92,105,817 (GRCm39) H44Y probably damaging Het
Slc19a3 T C 1: 83,004,081 (GRCm39) T7A probably benign Het
St7 C T 6: 17,852,313 (GRCm39) A233V probably damaging Het
Syn2 T A 6: 115,258,059 (GRCm39) S546T probably benign Het
Syne1 A T 10: 5,168,645 (GRCm39) Y5245* probably null Het
Trmt6 A G 2: 132,654,073 (GRCm39) W52R probably benign Het
Ubr4 G A 4: 139,141,705 (GRCm39) V1264M probably damaging Het
Ulk4 A T 9: 120,970,960 (GRCm39) V1004D probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 T A 6: 124,169,369 (GRCm39) H587L possibly damaging Het
Vmn2r79 A G 7: 86,652,741 (GRCm39) R478G probably benign Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G 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
R6526:Rbl2 UTSW 8 91,823,467 (GRCm39) missense probably benign 0.04
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'- GCATGGGACTGAGGAACTTTG -3'
(R):5'- TCACACGTAAGCAAGCCTG -3'

Sequencing Primer
(F):5'- ATGGCATCTGGAGGCAACC -3'
(R):5'- CGTAAGCAAGCCTGAAACTTAATG -3'
Posted On 2018-06-06