Incidental Mutation 'R0866:Rbbp9'
ID 82333
Institutional Source Beutler Lab
Gene Symbol Rbbp9
Ensembl Gene ENSMUSG00000027428
Gene Name retinoblastoma binding protein 9, serine hydrolase
Synonyms Bog
MMRRC Submission 039040-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0866 (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 144392628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 24 (Y24C)
Ref Sequence ENSEMBL: ENSMUSP00000028915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028915]
AlphaFold O88851
Predicted Effect probably damaging
Transcript: ENSMUST00000028915
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028915
Gene: ENSMUSG00000027428
AA Change: Y24C

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: ENSMUST00000140340
Meta Mutation Damage Score 0.7444 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 100% (44/44)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik G T 6: 131,529,742 (GRCm39) R112L unknown Het
Abcd4 G T 12: 84,658,507 (GRCm39) A232E probably damaging Het
Acsm5 T A 7: 119,140,123 (GRCm39) I508N probably damaging Het
Adam22 T C 5: 8,132,156 (GRCm39) Q263R probably damaging Het
Ccdc88c A G 12: 100,879,451 (GRCm39) L1890P probably benign Het
Ckap4 C T 10: 84,363,384 (GRCm39) D560N probably damaging Het
Crb3 T A 17: 57,369,743 (GRCm39) L17Q probably damaging Het
Fbxo21 G T 5: 118,115,098 (GRCm39) R78L probably benign Het
Gapvd1 A T 2: 34,599,229 (GRCm39) C669S probably damaging Het
Gria2 A T 3: 80,629,331 (GRCm39) probably benign Het
H2-M11 T C 17: 36,859,829 (GRCm39) L274P probably benign Het
Hmox1 A G 8: 75,823,931 (GRCm39) T200A probably benign Het
Hspa8 G A 9: 40,713,920 (GRCm39) probably null Het
Isy1 C A 6: 87,796,094 (GRCm39) R281L probably benign Het
Kiz C A 2: 146,697,973 (GRCm39) probably benign Het
Lrig2 T C 3: 104,371,591 (GRCm39) K704R probably benign Het
Lrp1 A T 10: 127,375,147 (GRCm39) D4484E probably damaging Het
Lrrc7 C A 3: 157,869,903 (GRCm39) probably benign Het
Mtmr14 T C 6: 113,216,543 (GRCm39) probably null Het
Mtmr3 A T 11: 4,438,474 (GRCm39) V660E probably benign Het
Mtor T C 4: 148,570,513 (GRCm39) I1190T probably benign Het
Mtrf1l T C 10: 5,763,376 (GRCm39) R318G probably damaging Het
Myh7 T C 14: 55,210,596 (GRCm39) T1739A probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or5h18 C T 16: 58,847,791 (GRCm39) V160I probably benign Het
Pcca A G 14: 123,126,957 (GRCm39) E722G possibly damaging Het
Pds5b T A 5: 150,662,656 (GRCm39) probably benign Het
Ralgapa2 A T 2: 146,277,923 (GRCm39) F413I probably damaging Het
Rgs2 A G 1: 143,877,988 (GRCm39) S103P probably damaging Het
Rtn1 G T 12: 72,355,156 (GRCm39) Y263* probably null Het
Slc22a1 T C 17: 12,875,933 (GRCm39) E427G probably benign Het
Speg A G 1: 75,393,727 (GRCm39) T1695A probably damaging Het
Tlx3 C A 11: 33,153,315 (GRCm39) G49W probably damaging Het
Tor1b A G 2: 30,846,928 (GRCm39) M292V probably benign Het
Tspyl3 A T 2: 153,066,854 (GRCm39) L128Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfc3h1 G A 10: 115,263,621 (GRCm39) V1821I probably benign Het
Zfhx4 A T 3: 5,477,272 (GRCm39) T3271S possibly damaging Het
Zfp386 G T 12: 116,018,329 (GRCm39) probably benign Het
Zfp574 A T 7: 24,779,323 (GRCm39) K115M probably damaging Het
Other mutations in Rbbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0195:Rbbp9 UTSW 2 144,390,026 (GRCm39) splice site probably benign
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
R5353:Rbbp9 UTSW 2 144,385,741 (GRCm39) missense probably benign
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'- CTTTTAGTGCCAAAACCTGCGCC -3'
(R):5'- AGTTTAGCTGCCTGTGCTTTAGCC -3'

Sequencing Primer
(F):5'- CAAAACCTGCGCCTTCTG -3'
(R):5'- CCTGTGCTTTAGCCAGAAAATG -3'
Posted On 2013-11-08