Incidental Mutation 'IGL02071:Rbl2'
ID185811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbl2
Ensembl Gene ENSMUSG00000031666
Gene NameRB transcriptional corepressor like 2
Synonymsp130, Rb2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02071
Quality Score
Status
Chromosome8
Chromosomal Location91070057-91123844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 91102198 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 576 (V576I)
Ref Sequence ENSEMBL: ENSMUSP00000147579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034091] [ENSMUST00000209518] [ENSMUST00000211136]
Predicted Effect probably damaging
Transcript: ENSMUST00000034091
AA Change: V619I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: V619I

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 damaging
Transcript: ENSMUST00000209518
AA Change: V609I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211136
AA Change: V576I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Rbl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Rbl2 APN 8 91085445 missense probably damaging 1.00
IGL01084:Rbl2 APN 8 91122313 missense probably damaging 0.99
IGL01317:Rbl2 APN 8 91100057 missense probably damaging 1.00
IGL01637:Rbl2 APN 8 91106438 missense probably benign
IGL01843:Rbl2 APN 8 91090216 missense probably benign 0.11
IGL01884:Rbl2 APN 8 91096836 missense probably damaging 1.00
IGL02588:Rbl2 APN 8 91087084 missense probably damaging 0.99
IGL03027:Rbl2 APN 8 91078906 missense possibly damaging 0.92
IGL03162:Rbl2 APN 8 91085702 missense probably benign 0.01
IGL03200:Rbl2 APN 8 91096767 missense probably benign 0.00
R0165:Rbl2 UTSW 8 91074176 missense probably damaging 1.00
R0238:Rbl2 UTSW 8 91106507 missense probably damaging 0.99
R0238:Rbl2 UTSW 8 91106507 missense probably damaging 0.99
R0317:Rbl2 UTSW 8 91087144 missense probably benign 0.00
R0539:Rbl2 UTSW 8 91112505 splice site probably benign
R1532:Rbl2 UTSW 8 91106417 missense probably benign 0.01
R1696:Rbl2 UTSW 8 91085724 missense probably benign 0.12
R1852:Rbl2 UTSW 8 91095563 missense possibly damaging 0.84
R1866:Rbl2 UTSW 8 91112529 missense probably benign 0.00
R1975:Rbl2 UTSW 8 91085462 missense probably benign
R2062:Rbl2 UTSW 8 91106739 missense probably damaging 1.00
R2180:Rbl2 UTSW 8 91090055 missense possibly damaging 0.51
R2423:Rbl2 UTSW 8 91087146 missense probably benign 0.34
R3109:Rbl2 UTSW 8 91102235 missense probably benign
R4356:Rbl2 UTSW 8 91107107 missense probably damaging 0.97
R4692:Rbl2 UTSW 8 91122419 missense probably damaging 1.00
R4707:Rbl2 UTSW 8 91085568 missense probably damaging 1.00
R4784:Rbl2 UTSW 8 91085568 missense probably damaging 1.00
R5084:Rbl2 UTSW 8 91115131 missense probably benign 0.43
R5432:Rbl2 UTSW 8 91102283 missense probably benign 0.01
R5493:Rbl2 UTSW 8 91115819 missense probably damaging 1.00
R5546:Rbl2 UTSW 8 91078932 missense probably benign 0.00
R5918:Rbl2 UTSW 8 91090130 missense probably benign 0.02
R6186:Rbl2 UTSW 8 91106730 missense probably damaging 1.00
R6257:Rbl2 UTSW 8 91115678 missense probably damaging 1.00
R6526:Rbl2 UTSW 8 91096839 missense probably benign 0.04
R6546:Rbl2 UTSW 8 91070370 missense probably benign
R6714:Rbl2 UTSW 8 91106787 missense possibly damaging 0.91
R7214:Rbl2 UTSW 8 91083429 critical splice donor site probably null
R7286:Rbl2 UTSW 8 91102294 nonsense probably null
R7290:Rbl2 UTSW 8 91115041 missense probably benign 0.33
R7315:Rbl2 UTSW 8 91076012 missense probably damaging 0.96
R7524:Rbl2 UTSW 8 91115193 missense probably benign
R8060:Rbl2 UTSW 8 91096869 critical splice donor site probably null
X0023:Rbl2 UTSW 8 91090079 missense possibly damaging 0.95
Posted On2014-05-07