Incidental Mutation 'R6437:Rrp9'
ID 518824
Institutional Source Beutler Lab
Gene Symbol Rrp9
Ensembl Gene ENSMUSG00000041506
Gene Name ribosomal RNA processing 9, U3 small nucleolar RNA binding protein
Synonyms Rnu3ip2, D9Wsu10e, 55kDa, U3-55k
MMRRC Submission 044575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R6437 (G1)
Quality Score 147.008
Status Validated
Chromosome 9
Chromosomal Location 106354508-106362614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106360150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 186 (R186L)
Ref Sequence ENSEMBL: ENSMUSP00000038580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000185336]
AlphaFold Q91WM3
Predicted Effect probably benign
Transcript: ENSMUST00000047721
AA Change: R186L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: R186L

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 noncoding transcript
Transcript: ENSMUST00000123464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156796
Predicted Effect probably benign
Transcript: ENSMUST00000185336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217303
Meta Mutation Damage Score 0.0779 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,582,347 (GRCm39) V794E probably damaging Het
Agrn C T 4: 156,261,235 (GRCm39) V514I probably damaging Het
Atg16l1 T C 1: 87,718,370 (GRCm39) L545P probably damaging Het
Ces3b T A 8: 105,819,238 (GRCm39) D431E probably damaging Het
Cracr2a A G 6: 127,608,794 (GRCm39) D291G probably damaging Het
Csmd2 T G 4: 127,881,893 (GRCm39) C11G probably benign Het
Cstdc3 A G 16: 36,132,999 (GRCm39) E92G probably damaging Het
Dido1 A G 2: 180,316,806 (GRCm39) I127T probably damaging Het
Dpp8 A T 9: 64,981,860 (GRCm39) Y714F probably benign Het
Efcab5 G A 11: 77,028,728 (GRCm39) A201V probably benign Het
Eif3h C T 15: 51,662,660 (GRCm39) V129I probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fars2 G A 13: 36,388,846 (GRCm39) V112I probably benign Het
Fbn2 T G 18: 58,246,435 (GRCm39) D489A probably damaging Het
Frmd4b G T 6: 97,273,228 (GRCm39) S675R probably damaging Het
Fsip2 C T 2: 82,813,836 (GRCm39) S3385F possibly damaging Het
Gtpbp10 A G 5: 5,607,406 (GRCm39) Y12H probably damaging Het
Kcng3 A G 17: 83,938,558 (GRCm39) S164P probably damaging Het
Kifap3 T A 1: 163,685,095 (GRCm39) L483Q probably damaging Het
Klk10 A G 7: 43,432,241 (GRCm39) H58R probably benign Het
Kntc1 T G 5: 123,907,754 (GRCm39) W452G probably damaging Het
Krt87 C T 15: 101,336,273 (GRCm39) D127N possibly damaging Het
Ldaf1 A T 7: 119,715,584 (GRCm39) probably null Het
Lipm A G 19: 34,098,657 (GRCm39) Y377C probably damaging Het
Mrc2 G A 11: 105,240,669 (GRCm39) R1453H probably damaging Het
Nat1 T C 8: 67,944,388 (GRCm39) F255L possibly damaging Het
Neb C T 2: 52,147,569 (GRCm39) probably null Het
Nek5 T A 8: 22,575,476 (GRCm39) D491V possibly damaging Het
Nynrin T C 14: 56,109,227 (GRCm39) S1445P probably benign Het
Oog2 T A 4: 143,921,678 (GRCm39) probably null Het
Or2j6 C T 7: 139,980,434 (GRCm39) C175Y probably damaging Het
Pafah1b1 T C 11: 74,568,557 (GRCm39) T391A probably benign Het
Pcdhb7 T C 18: 37,475,743 (GRCm39) L293P probably damaging Het
Plce1 A T 19: 38,513,576 (GRCm39) T292S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rfx7 A G 9: 72,525,768 (GRCm39) Q986R possibly damaging Het
Samm50 T A 15: 84,088,298 (GRCm39) probably null Het
Scoc T C 8: 84,164,616 (GRCm39) D7G probably benign Het
Smad9 C T 3: 54,693,505 (GRCm39) P145S probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snrk A G 9: 121,995,879 (GRCm39) R553G probably damaging Het
Srcap T A 7: 127,127,722 (GRCm39) probably null Het
Syne2 T A 12: 76,037,188 (GRCm39) V3789E possibly damaging Het
Thsd7b T C 1: 129,744,419 (GRCm39) I769T probably damaging Het
Ttc7 A G 17: 87,637,534 (GRCm39) K430E probably damaging Het
Ubr4 T A 4: 139,124,525 (GRCm39) probably null Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r37 G T 7: 9,220,850 (GRCm39) Q338K probably damaging Het
Yod1 T C 1: 130,646,885 (GRCm39) V254A probably damaging Het
Zfpm2 T C 15: 40,962,793 (GRCm39) S152P probably benign Het
Zmym2 T A 14: 57,140,461 (GRCm39) L100H probably damaging Het
Other mutations in Rrp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Rrp9 APN 9 106,362,471 (GRCm39) missense probably damaging 0.99
IGL02540:Rrp9 APN 9 106,360,746 (GRCm39) unclassified probably benign
IGL02581:Rrp9 APN 9 106,360,827 (GRCm39) missense probably damaging 1.00
P0005:Rrp9 UTSW 9 106,358,376 (GRCm39) missense probably benign
R1757:Rrp9 UTSW 9 106,360,203 (GRCm39) missense probably damaging 0.99
R5585:Rrp9 UTSW 9 106,362,525 (GRCm39) missense probably benign 0.35
R6135:Rrp9 UTSW 9 106,360,221 (GRCm39) missense probably damaging 1.00
R6575:Rrp9 UTSW 9 106,360,778 (GRCm39) missense probably damaging 0.99
R7878:Rrp9 UTSW 9 106,358,516 (GRCm39) missense probably damaging 1.00
R8732:Rrp9 UTSW 9 106,360,388 (GRCm39) missense probably benign 0.15
R8745:Rrp9 UTSW 9 106,361,657 (GRCm39) missense possibly damaging 0.82
R9454:Rrp9 UTSW 9 106,360,840 (GRCm39) missense possibly damaging 0.69
Z1177:Rrp9 UTSW 9 106,360,999 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGACAAGTACAGATGCTCAC -3'
(R):5'- CTCCCAAATGAGAATGAGCTTGC -3'

Sequencing Primer
(F):5'- AGATGCTCACAGCTGCTGAG -3'
(R):5'- TGCTGCGGTCGCCAGAG -3'
Posted On 2018-05-24