Incidental Mutation 'P0005:Rrp9'
ID7597
Institutional Source Beutler Lab
Gene Symbol Rrp9
Ensembl Gene ENSMUSG00000041506
Gene NameRRP9, small subunit (SSU) processome component, homolog (yeast)
SynonymsRnu3ip2, U3-55k, 55kDa, D9Wsu10e
MMRRC Submission 038262-MU
Accession Numbers

NCBI RefSeq: NM_145620.4; MGI: 2384313

Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #P0005 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location106475963-106485424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106481177 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 101 (R101H)
Ref Sequence ENSEMBL: ENSMUSP00000038580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000125850] [ENSMUST00000185336] [ENSMUST00000214682]
Predicted Effect probably benign
Transcript: ENSMUST00000047721
AA Change: R101H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: R101H

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
low complexity region 47 57 N/A INTRINSIC
coiled coil region 61 102 N/A INTRINSIC
WD40 135 174 1.15e-4 SMART
WD40 177 227 3.09e-5 SMART
WD40 230 269 2.42e-7 SMART
WD40 272 311 9.24e-4 SMART
WD40 313 351 2.4e-2 SMART
WD40 354 404 4.6e0 SMART
Blast:WD40 412 451 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000067218
SMART Domains Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Pfam:PARP_reg 176 315 8.7e-39 PFAM
Pfam:PARP 317 528 7.1e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112479
SMART Domains Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Pfam:PARP_reg 182 319 1.3e-42 PFAM
Pfam:PARP 322 533 7.3e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123464
Predicted Effect probably benign
Transcript: ENSMUST00000123555
SMART Domains Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Pfam:PARP_reg 176 315 8.7e-39 PFAM
Pfam:PARP 317 528 7.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125630
Predicted Effect probably benign
Transcript: ENSMUST00000125850
SMART Domains Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249

DomainStartEndE-ValueType
WGR 64 141 1.83e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156796
Predicted Effect probably benign
Transcript: ENSMUST00000185336
Predicted Effect probably benign
Transcript: ENSMUST00000214682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217303
Meta Mutation Damage Score 0.1866 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 80.5%
  • 10x: 66.1%
  • 20x: 49.6%
Validation Efficiency 95% (104/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]
Allele List at MGI

All alleles(3) : Targeted(1) Gene trapped(2)  

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik T A 1: 134,387,908 M15K probably benign Het
Atp13a1 T C 8: 69,803,747 V845A possibly damaging Het
C87499 A G 4: 88,627,950 L385P probably damaging Het
Casp6 T C 3: 129,912,143 V153A probably benign Het
Col6a1 A G 10: 76,717,329 probably benign Het
Dars2 A G 1: 161,053,939 probably null Het
Hmgcll1 T A 9: 76,074,759 M162K possibly damaging Het
Hydin A T 8: 110,494,289 probably null Het
Ift74 A G 4: 94,662,576 probably benign Het
Itpr1 A T 6: 108,381,257 I595F probably damaging Het
Mmp17 T C 5: 129,596,631 V258A probably benign Het
Nek6 T C 2: 38,569,737 probably null Het
Nomo1 A T 7: 46,037,557 probably null Het
Nudt3 A G 17: 27,596,715 probably benign Het
Prkg2 A C 5: 98,969,947 F512V probably damaging Het
Ptp4a3 T A 15: 73,755,311 D72E possibly damaging Het
Rpgrip1l A T 8: 91,299,225 probably benign Het
Slc7a6os T C 8: 106,204,522 I161V probably benign Het
Tex15 T C 8: 33,570,868 F109L probably benign Het
Tns2 A G 15: 102,114,056 Q1188R probably damaging Het
Other mutations in Rrp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Rrp9 APN 9 106485272 missense probably damaging 0.99
IGL02540:Rrp9 APN 9 106483547 unclassified probably benign
IGL02581:Rrp9 APN 9 106483628 missense probably damaging 1.00
R1757:Rrp9 UTSW 9 106483004 missense probably damaging 0.99
R5585:Rrp9 UTSW 9 106485326 missense probably benign 0.35
R6135:Rrp9 UTSW 9 106483022 missense probably damaging 1.00
R6437:Rrp9 UTSW 9 106482951 missense probably benign 0.34
R6575:Rrp9 UTSW 9 106483579 missense probably damaging 0.99
Protein Function and Prediction

Rrp9 has been identified in yeast (Rrp9p) as a U3 protein involved in early pre-rRNA processing cleavage (1).  Depletion of Rrp9p in yeast specifically inhibits the production of the 18S rRNA.

References
Posted On2012-10-05
Science WriterAnne Murray