Incidental Mutation 'R4509:Rrp1'
ID 386390
Institutional Source Beutler Lab
Gene Symbol Rrp1
Ensembl Gene ENSMUSG00000061032
Gene Name ribosomal RNA processing 1
Synonyms Nnp1, NNP-1
MMRRC Submission 041758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4509 (G1)
Quality Score 69
Status Validated
Chromosome 10
Chromosomal Location 78236218-78248877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78248656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 44 (T44K)
Ref Sequence ENSEMBL: ENSMUSP00000151634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062678] [ENSMUST00000219374]
AlphaFold P56183
Predicted Effect possibly damaging
Transcript: ENSMUST00000062678
AA Change: T44K

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058785
Gene: ENSMUSG00000061032
AA Change: T44K

Pfam:Nop52 11 219 5.3e-74 PFAM
low complexity region 240 307 N/A INTRINSIC
low complexity region 406 425 N/A INTRINSIC
low complexity region 431 441 N/A INTRINSIC
low complexity region 447 454 N/A INTRINSIC
low complexity region 458 486 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219141
Predicted Effect possibly damaging
Transcript: ENSMUST00000219374
AA Change: T44K

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219901
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,857,581 (GRCm39) L657P probably damaging Het
Adam4 A T 12: 81,468,521 (GRCm39) C33* probably null Het
Adam6b T C 12: 113,453,972 (GRCm39) V263A probably benign Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Ascc3 T C 10: 50,718,339 (GRCm39) F2011L probably benign Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Cacna1d T C 14: 29,818,928 (GRCm39) Y1209C probably damaging Het
Camta2 G A 11: 70,571,844 (GRCm39) T484M probably benign Het
Ccdc178 T C 18: 22,200,449 (GRCm39) N452D possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cttnbp2nl T C 3: 104,940,063 (GRCm39) N2S probably damaging Het
Gm15032 A T X: 141,405,622 (GRCm39) noncoding transcript Het
Gzmg G A 14: 56,394,210 (GRCm39) P228L probably damaging Het
Hao1 T A 2: 134,364,964 (GRCm39) D221V probably damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Mdn1 C T 4: 32,715,883 (GRCm39) R2022C probably damaging Het
Mipep T C 14: 61,064,770 (GRCm39) Y375H probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Pah T C 10: 87,412,077 (GRCm39) probably null Het
Perm1 T C 4: 156,302,043 (GRCm39) S196P probably benign Het
Pik3c2g A T 6: 139,665,732 (GRCm39) T18S probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Ppp3cb A T 14: 20,565,569 (GRCm39) probably benign Het
Psd4 T C 2: 24,286,347 (GRCm39) S316P probably benign Het
Ptpn18 T C 1: 34,501,823 (GRCm39) V45A possibly damaging Het
Rasgrp3 A G 17: 75,807,668 (GRCm39) M242V probably damaging Het
Repin1 T C 6: 48,573,460 (GRCm39) C130R possibly damaging Het
Slc44a5 A G 3: 153,939,710 (GRCm39) Y88C probably damaging Het
Socs1 C T 16: 10,602,218 (GRCm39) R173Q probably benign Het
Speer3 T G 5: 13,846,368 (GRCm39) N229K possibly damaging Het
Sult2a7 T A 7: 14,204,086 (GRCm39) I226F probably damaging Het
Tdp1 G A 12: 99,921,324 (GRCm39) probably benign Het
Tnfrsf21 G A 17: 43,396,279 (GRCm39) S521N probably benign Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Ubqln3 G A 7: 103,790,651 (GRCm39) L480F probably damaging Het
Vps13d G A 4: 144,789,172 (GRCm39) P3817L probably damaging Het
Xpr1 A G 1: 155,165,907 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,520,411 (GRCm39) E511G probably benign Het
Zfp560 C T 9: 20,260,019 (GRCm39) C281Y probably damaging Het
Other mutations in Rrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Rrp1 APN 10 78,240,905 (GRCm39) utr 3 prime probably benign
IGL02654:Rrp1 APN 10 78,248,773 (GRCm39) missense probably benign 0.11
IGL02836:Rrp1 APN 10 78,240,874 (GRCm39) utr 3 prime probably benign
IGL02861:Rrp1 APN 10 78,245,056 (GRCm39) splice site probably benign
R2133:Rrp1 UTSW 10 78,237,728 (GRCm39) utr 3 prime probably benign
R5919:Rrp1 UTSW 10 78,241,422 (GRCm39) missense probably damaging 1.00
R5940:Rrp1 UTSW 10 78,241,249 (GRCm39) missense probably damaging 1.00
R8798:Rrp1 UTSW 10 78,245,024 (GRCm39) missense probably damaging 1.00
R9103:Rrp1 UTSW 10 78,240,876 (GRCm39) missense unknown
R9603:Rrp1 UTSW 10 78,240,757 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-05-24