Incidental Mutation 'R5353:Rbbp9'
ID 423892
Institutional Source Beutler Lab
Gene Symbol Rbbp9
Ensembl Gene ENSMUSG00000027428
Gene Name retinoblastoma binding protein 9, serine hydrolase
Synonyms Bog
MMRRC Submission 042932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5353 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 144384185-144392779 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144385741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 175 (I175V)
Ref Sequence ENSEMBL: ENSMUSP00000028915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028914] [ENSMUST00000028915]
AlphaFold O88851
Predicted Effect probably benign
Transcript: ENSMUST00000028914
SMART Domains Protein: ENSMUSP00000028914
Gene: ENSMUSG00000027427

DomainStartEndE-ValueType
Pfam:RNA_pol_Rpc34 1 315 6.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028915
AA Change: I175V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028915
Gene: ENSMUSG00000027428
AA Change: I175V

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 7 166 5.8e-11 PFAM
Pfam:Ser_hydrolase 7 183 2.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140340
Meta Mutation Damage Score 0.0775 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,934,470 (GRCm39) S649P probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adamts1 T A 16: 85,599,496 (GRCm39) M35L probably benign Het
Adgrg3 A T 8: 95,762,556 (GRCm39) H202L probably damaging Het
Anln G T 9: 22,271,813 (GRCm39) R681S probably damaging Het
Aprt A T 8: 123,302,147 (GRCm39) M1K probably null Het
Arid3b G T 9: 57,702,320 (GRCm39) probably null Het
Cbl A G 9: 44,084,620 (GRCm39) F172L probably damaging Het
Cd109 G T 9: 78,617,521 (GRCm39) V1340L probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Chrm3 A G 13: 9,928,593 (GRCm39) Y148H probably damaging Het
Cog7 A C 7: 121,540,470 (GRCm39) probably null Het
Cpsf1 A T 15: 76,486,771 (GRCm39) I255N probably damaging Het
Crebzf G A 7: 90,092,622 (GRCm39) G134R probably damaging Het
Crybg1 T C 10: 43,849,661 (GRCm39) S1705G probably damaging Het
Dock6 A T 9: 21,726,082 (GRCm39) H1409Q probably benign Het
Fank1 A G 7: 133,478,632 (GRCm39) D232G probably damaging Het
Fat1 G T 8: 45,489,168 (GRCm39) V3480L probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmn2 G T 1: 174,330,572 (GRCm39) G321W unknown Het
Greb1 A T 12: 16,738,567 (GRCm39) Y1465* probably null Het
Hdac9 G A 12: 34,443,392 (GRCm39) Q330* probably null Het
Kcnt2 C T 1: 140,354,639 (GRCm39) T298I probably damaging Het
Knl1 A G 2: 118,901,464 (GRCm39) D1055G probably benign Het
Mroh2b T C 15: 4,946,660 (GRCm39) S487P probably damaging Het
Naa38 G A 11: 69,287,408 (GRCm39) V110I probably benign Het
Nkd2 T C 13: 73,969,557 (GRCm39) H303R probably damaging Het
Nr1d2 A G 14: 18,222,125 (GRCm38) C49R probably benign Het
Or4c111 A G 2: 88,844,099 (GRCm39) V103A probably benign Het
Or52b2 A G 7: 104,986,324 (GRCm39) Y200H probably damaging Het
Ovch2 T A 7: 107,393,631 (GRCm39) E165V probably damaging Het
Phyh A T 2: 4,947,012 (GRCm39) probably benign Het
Pik3r4 G A 9: 105,545,137 (GRCm39) probably null Het
Ppip5k1 A C 2: 121,142,201 (GRCm39) V1416G probably benign Het
Ppm1b T C 17: 85,301,537 (GRCm39) V139A probably benign Het
Ppp1r12a T G 10: 108,097,077 (GRCm39) probably null Het
Pramel20 A G 4: 143,297,807 (GRCm39) T76A probably benign Het
Psmc5 G T 11: 106,152,327 (GRCm39) A115S probably damaging Het
Ptpn5 T A 7: 46,731,642 (GRCm39) E409V probably benign Het
Ptprg T A 14: 11,554,235 (GRCm38) probably benign Het
Qrich1 G T 9: 108,422,164 (GRCm39) V593F probably damaging Het
Selenot T C 3: 58,493,387 (GRCm39) F88S possibly damaging Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Spred2 A G 11: 19,968,155 (GRCm39) D208G possibly damaging Het
Surf1 T C 2: 26,804,204 (GRCm39) T197A probably benign Het
Taco1 G A 11: 105,963,539 (GRCm39) probably null Het
Tas2r109 A G 6: 132,957,594 (GRCm39) V112A possibly damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Uggt2 A G 14: 119,319,182 (GRCm39) I280T probably benign Het
Yipf2 A G 9: 21,503,228 (GRCm39) Y80H possibly damaging Het
Zscan12 T C 13: 21,548,178 (GRCm39) V120A possibly damaging Het
Other mutations in Rbbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0195:Rbbp9 UTSW 2 144,390,026 (GRCm39) splice site probably benign
R0866:Rbbp9 UTSW 2 144,392,628 (GRCm39) missense probably damaging 1.00
R1467:Rbbp9 UTSW 2 144,385,777 (GRCm39) missense possibly damaging 0.50
R1467:Rbbp9 UTSW 2 144,385,777 (GRCm39) missense possibly damaging 0.50
R5121:Rbbp9 UTSW 2 144,392,676 (GRCm39) missense possibly damaging 0.74
R6453:Rbbp9 UTSW 2 144,391,054 (GRCm39) missense probably benign
R7297:Rbbp9 UTSW 2 144,385,722 (GRCm39) missense probably benign
R8220:Rbbp9 UTSW 2 144,389,986 (GRCm39) missense probably null 1.00
R8292:Rbbp9 UTSW 2 144,390,017 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTGAAAGTGCTGGTAACTTGG -3'
(R):5'- GCACATTGATAGGCTCTTCCC -3'

Sequencing Primer
(F):5'- TGGTAACTTGGTGTGAGTGTTCAAAC -3'
(R):5'- TCCTACAGGGTACTTCAGCC -3'
Posted On 2016-08-04