Incidental Mutation 'R9454:Rrp9'
ID 714478
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R9454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 106354508-106362614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106360840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 274 (S274P)
Ref Sequence ENSEMBL: ENSMUSP00000038580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000185336]
AlphaFold Q91WM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000047721
AA Change: S274P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: S274P

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: ENSMUST00000185336
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G T 18: 61,952,067 (GRCm39) H431Q possibly damaging Het
Adam25 A T 8: 41,207,486 (GRCm39) I251F probably damaging Het
Ankrd31 A T 13: 96,916,842 (GRCm39) T119S probably damaging Het
Ankrd31 T C 13: 96,916,846 (GRCm39) V120A possibly damaging Het
Anks6 T C 4: 47,016,789 (GRCm39) E809G possibly damaging Het
Arhgap21 A T 2: 20,870,153 (GRCm39) S928T probably damaging Het
Arhgef10l G T 4: 140,308,236 (GRCm39) S39* probably null Het
Aspm G A 1: 139,408,732 (GRCm39) E2540K probably benign Het
Atp10a T C 7: 58,308,339 (GRCm39) I46T probably benign Het
Atp13a5 C A 16: 29,133,338 (GRCm39) V483L possibly damaging Het
BC028528 T C 3: 95,797,082 (GRCm39) D29G possibly damaging Het
Ccdc187 T A 2: 26,166,114 (GRCm39) T772S possibly damaging Het
Ccnh G A 13: 85,350,521 (GRCm39) A199T probably benign Het
Cfap65 A T 1: 74,944,210 (GRCm39) Y1504N probably damaging Het
Ckap2 C A 8: 22,665,899 (GRCm39) E383* probably null Het
Clec4n T C 6: 123,212,532 (GRCm39) V116A possibly damaging Het
Cmc2 G T 8: 117,616,550 (GRCm39) D58E unknown Het
Cntn6 A G 6: 104,781,308 (GRCm39) K465E possibly damaging Het
Col6a6 G A 9: 105,661,059 (GRCm39) A350V probably damaging Het
Cps1 A G 1: 67,219,311 (GRCm39) I884V probably damaging Het
E2f7 C T 10: 110,620,542 (GRCm39) A853V probably benign Het
E330034G19Rik A T 14: 24,346,860 (GRCm39) Q114L unknown Het
Egfr G T 11: 16,837,155 (GRCm39) G632V probably damaging Het
Fam98b T C 2: 117,080,250 (GRCm39) M1T probably null Het
Fcgr2b T A 1: 170,788,657 (GRCm39) I317F probably damaging Het
Galntl6 T C 8: 58,411,435 (GRCm39) D265G probably damaging Het
Gm4922 A G 10: 18,660,329 (GRCm39) L131P probably damaging Het
H1f7 T C 15: 98,154,823 (GRCm39) I109V probably benign Het
H2-Q1 A T 17: 35,540,349 (GRCm39) I145F probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Ica1 A T 6: 8,667,288 (GRCm39) S293T probably benign Het
Ift70a2 T A 2: 75,806,812 (GRCm39) I567F probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Magi2 G T 5: 20,671,176 (GRCm39) V507F probably damaging Het
Malrd1 G A 2: 15,802,537 (GRCm39) W1083* probably null Het
Malrd1 T C 2: 15,757,660 (GRCm39) I978T unknown Het
Mgarp T C 3: 51,303,902 (GRCm39) T10A probably damaging Het
Mtnr1a A G 8: 45,538,612 (GRCm39) I17V Het
Muc5ac C T 7: 141,362,431 (GRCm39) T1914I unknown Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nav3 T C 10: 109,835,864 (GRCm39) T73A probably benign Het
Or4b1 A C 2: 89,979,820 (GRCm39) C177G probably damaging Het
Or8k21 A T 2: 86,145,178 (GRCm39) Y151N probably damaging Het
Pclo T A 5: 14,762,452 (GRCm39) S357T probably benign Het
Pkdrej T A 15: 85,702,420 (GRCm39) N1172I probably benign Het
Psmb9 G A 17: 34,402,078 (GRCm39) R173C probably benign Het
Ralgapb T A 2: 158,315,072 (GRCm39) H1146Q probably benign Het
Raph1 T A 1: 60,528,753 (GRCm39) Q836L unknown Het
Rcc1 A G 4: 132,062,074 (GRCm39) S280P probably damaging Het
Recql T C 6: 142,320,617 (GRCm39) M144V possibly damaging Het
Rela T C 19: 5,695,368 (GRCm39) I298T probably damaging Het
Rfc1 T A 5: 65,431,774 (GRCm39) I792F Het
Rnf31 A G 14: 55,833,609 (GRCm39) E539G Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Scmh1 A G 4: 120,372,276 (GRCm39) I360V probably benign Het
Sh3yl1 T C 12: 30,990,420 (GRCm39) probably null Het
Shisa9 T C 16: 11,802,523 (GRCm39) S27P probably benign Het
Slc17a4 A G 13: 24,085,910 (GRCm39) V359A probably benign Het
Slfn5 C A 11: 82,850,885 (GRCm39) A394E probably benign Het
Sun3 A G 11: 8,988,281 (GRCm39) F14L probably benign Het
Surf1 A T 2: 26,804,808 (GRCm39) D148E possibly damaging Het
Syne2 A T 12: 76,141,844 (GRCm39) K1388* probably null Het
Syne2 A G 12: 76,067,275 (GRCm39) K4325E probably damaging Het
Tacr1 A G 6: 82,531,853 (GRCm39) M250V probably damaging Het
Tenm2 T C 11: 36,112,286 (GRCm39) T420A probably benign Het
Tm7sf3 C A 6: 146,520,041 (GRCm39) A282S probably benign Het
Tmf1 T C 6: 97,155,866 (GRCm39) E40G probably benign Het
Tnfrsf12a A G 17: 23,895,491 (GRCm39) probably null Het
Unc80 C A 1: 66,734,749 (GRCm39) H3325Q possibly damaging Het
Vamp9 C T 5: 100,070,952 (GRCm39) P76S probably damaging Het
Zfp142 A G 1: 74,609,016 (GRCm39) L1593S probably damaging Het
Zfp869 T A 8: 70,159,241 (GRCm39) Y444F probably benign Het
Zscan10 G A 17: 23,826,619 (GRCm39) probably null 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
R6437:Rrp9 UTSW 9 106,360,150 (GRCm39) missense probably benign 0.34
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
Z1177:Rrp9 UTSW 9 106,360,999 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCATGTGACTCACTTTCAGG -3'
(R):5'- TAGAAGACAAGCTGGGACTCC -3'

Sequencing Primer
(F):5'- CATGTGACTCACTTTCAGGAGAGC -3'
(R):5'- TCGGGGATCTTCCACACAC -3'
Posted On 2022-06-15