Incidental Mutation 'R7023:Rpp40'
ID 545800
Institutional Source Beutler Lab
Gene Symbol Rpp40
Ensembl Gene ENSMUSG00000021418
Gene Name ribonuclease P 40 subunit
Synonyms Rnasep1, D8Bwg1265e
MMRRC Submission 045124-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 36077455-36090342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36082889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 200 (R200W)
Ref Sequence ENSEMBL: ENSMUSP00000134228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171686] [ENSMUST00000174230]
AlphaFold Q8R1F9
Predicted Effect probably benign
Transcript: ENSMUST00000171686
AA Change: R223W

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418
AA Change: R223W

DomainStartEndE-ValueType
Pfam:Ribonuc_P_40 75 346 1.9e-97 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174230
AA Change: R200W

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418
AA Change: R200W

DomainStartEndE-ValueType
Pfam:Ribonuc_P_40 85 324 1.7e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174231
SMART Domains Protein: ENSMUSP00000134210
Gene: ENSMUSG00000021418

DomainStartEndE-ValueType
Pfam:Ribonuc_P_40 19 67 1.5e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,443 (GRCm39) H372R probably benign Het
4933405O20Rik T C 7: 50,250,001 (GRCm39) I345T probably damaging Het
4933427D14Rik A G 11: 72,069,229 (GRCm39) probably null Het
6430548M08Rik T C 8: 120,872,096 (GRCm39) V8A probably damaging Het
Adam2 A T 14: 66,280,505 (GRCm39) D501E probably benign Het
Agbl3 T C 6: 34,791,704 (GRCm39) V602A probably benign Het
Akap12 T C 10: 4,306,895 (GRCm39) M1235T probably benign Het
Arid5a G A 1: 36,356,631 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,469 (GRCm39) D1006E probably benign Het
AY074887 T C 9: 54,858,149 (GRCm39) probably benign Het
Btbd9 T A 17: 30,746,546 (GRCm39) R93S probably benign Het
Cabp2 A T 19: 4,132,658 (GRCm39) probably null Het
Cacna1e T C 1: 154,601,439 (GRCm39) D76G probably null Het
Cd177 A G 7: 24,459,187 (GRCm39) I74T probably benign Het
Chchd1 G A 14: 20,753,310 (GRCm39) probably benign Het
Col28a1 T C 6: 8,083,763 (GRCm39) R565G possibly damaging Het
Cpvl T A 6: 53,944,797 (GRCm39) I80F probably benign Het
Csgalnact1 T C 8: 68,811,081 (GRCm39) T530A probably benign Het
Cybrd1 A G 2: 70,968,922 (GRCm39) D265G probably benign Het
Cyp2c69 A T 19: 39,865,986 (GRCm39) N202K probably benign Het
D1Pas1 A G 1: 186,700,205 (GRCm39) N45D probably damaging Het
Dclre1a A G 19: 56,528,638 (GRCm39) V839A probably damaging Het
Degs1 A T 1: 182,106,630 (GRCm39) Y210N probably damaging Het
Doc2g A G 19: 4,054,778 (GRCm39) S220G probably benign Het
Epb41l2 T A 10: 25,388,875 (GRCm39) L885Q probably damaging Het
Fabp1 A T 6: 71,180,069 (GRCm39) probably null Het
Fat2 G A 11: 55,201,328 (GRCm39) S582L probably benign Het
Fcgbpl1 T A 7: 27,839,463 (GRCm39) C425* probably null Het
Fras1 A G 5: 96,857,943 (GRCm39) N2079S probably benign Het
Gdf6 T C 4: 9,860,210 (GRCm39) Y431H probably damaging Het
Gfra1 A T 19: 58,442,764 (GRCm39) L6Q probably damaging Het
Gm45861 T G 8: 28,071,034 (GRCm39) S1305A unknown Het
Gse1 T C 8: 120,957,387 (GRCm39) probably benign Het
Kmt2e A G 5: 23,705,485 (GRCm39) H1303R possibly damaging Het
Lck T C 4: 129,442,658 (GRCm39) D499G possibly damaging Het
Lepr A T 4: 101,646,484 (GRCm39) Y805F probably damaging Het
Lin7a A T 10: 107,218,489 (GRCm39) Y11F possibly damaging Het
Lrrc43 A G 5: 123,641,826 (GRCm39) K559E probably damaging Het
Megf6 T C 4: 154,338,602 (GRCm39) L467P possibly damaging Het
Mprip G A 11: 59,628,215 (GRCm39) G221R probably damaging Het
Myo5c T C 9: 75,208,738 (GRCm39) V1683A probably damaging Het
Nbeal2 G A 9: 110,467,686 (GRCm39) R501W probably damaging Het
Ncf1 G T 5: 134,254,116 (GRCm39) A219E possibly damaging Het
Nckap1l T C 15: 103,384,493 (GRCm39) I616T probably benign Het
Nlrp2 A T 7: 5,331,228 (GRCm39) C389* probably null Het
Nrg3 T C 14: 38,098,333 (GRCm39) E507G probably damaging Het
Or4p19 A G 2: 88,242,759 (GRCm39) L81P probably damaging Het
P4ha2 A T 11: 54,022,072 (GRCm39) T532S probably benign Het
Pappa A T 4: 65,269,955 (GRCm39) H1623L probably benign Het
Paqr6 A G 3: 88,273,353 (GRCm39) Y115C probably damaging Het
Pcolce2 A T 9: 95,560,521 (GRCm39) Q190L probably benign Het
Poll A G 19: 45,547,277 (GRCm39) I65T probably benign Het
Prmt9 T C 8: 78,276,086 (GRCm39) probably benign Het
Prpf39 T C 12: 65,100,074 (GRCm39) V130A possibly damaging Het
Prpf6 A G 2: 181,262,433 (GRCm39) D144G probably damaging Het
Rgs6 T A 12: 83,138,878 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,879,847 (GRCm39) probably null Het
Ripor2 A G 13: 24,855,829 (GRCm39) T90A probably benign Het
Rnf150 T C 8: 83,590,706 (GRCm39) F23S probably damaging Het
Rtp3 G A 9: 110,815,714 (GRCm39) S217L probably benign Het
Sacs A C 14: 61,446,264 (GRCm39) K2770T probably benign Het
Scn10a A T 9: 119,442,610 (GRCm39) I1545N probably damaging Het
Scn2b G T 9: 45,037,438 (GRCm39) V162L probably damaging Het
Sema6d A G 2: 124,506,831 (GRCm39) T880A probably damaging Het
Slc36a4 A G 9: 15,630,929 (GRCm39) D16G probably benign Het
Slc4a8 T A 15: 100,689,524 (GRCm39) I378K probably benign Het
Smco2 T A 6: 146,760,354 (GRCm39) L70* probably null Het
Sptb C T 12: 76,671,862 (GRCm39) V364I probably damaging Het
Susd4 A G 1: 182,592,613 (GRCm39) H3R probably damaging Het
Tbc1d16 T C 11: 119,049,617 (GRCm39) Q293R probably damaging Het
Tnfsf9 T A 17: 57,414,317 (GRCm39) M248K possibly damaging Het
Toporsl A G 4: 52,611,211 (GRCm39) N368S possibly damaging Het
Trip11 T C 12: 101,852,126 (GRCm39) E361G probably benign Het
Trrap T A 5: 144,728,964 (GRCm39) M626K possibly damaging Het
Ttn A T 2: 76,773,218 (GRCm39) S2395T probably damaging Het
Ubqln3 T C 7: 103,790,630 (GRCm39) R487G probably damaging Het
Vdac1 A G 11: 52,265,193 (GRCm39) Y22C probably damaging Het
Vmn1r59 C T 7: 5,457,477 (GRCm39) M94I probably benign Het
Vmn2r10 G T 5: 109,149,894 (GRCm39) D383E probably damaging Het
Vmn2r115 T C 17: 23,578,785 (GRCm39) Y753H probably damaging Het
Vmn2r97 G T 17: 19,134,663 (GRCm39) C27F probably damaging Het
Wasf1 T A 10: 40,812,471 (GRCm39) V420E unknown Het
Zfp94 A T 7: 24,002,821 (GRCm39) L201Q probably damaging Het
Zgpat TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 2: 181,007,811 (GRCm39) probably benign Het
Zmym4 C A 4: 126,762,593 (GRCm39) R1410L probably damaging Het
Other mutations in Rpp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Rpp40 APN 13 36,086,017 (GRCm39) missense probably damaging 1.00
IGL01550:Rpp40 APN 13 36,090,183 (GRCm39) splice site probably null
IGL03028:Rpp40 APN 13 36,088,494 (GRCm39) missense probably damaging 0.99
R0006:Rpp40 UTSW 13 36,080,718 (GRCm39) missense probably damaging 1.00
R0098:Rpp40 UTSW 13 36,082,970 (GRCm39) missense probably benign 0.06
R0098:Rpp40 UTSW 13 36,082,970 (GRCm39) missense probably benign 0.06
R0144:Rpp40 UTSW 13 36,085,352 (GRCm39) missense probably benign 0.00
R0799:Rpp40 UTSW 13 36,086,034 (GRCm39) missense probably benign
R1852:Rpp40 UTSW 13 36,080,897 (GRCm39) missense probably benign 0.06
R2083:Rpp40 UTSW 13 36,082,975 (GRCm39) missense probably benign 0.01
R2129:Rpp40 UTSW 13 36,082,604 (GRCm39) nonsense probably null
R4042:Rpp40 UTSW 13 36,082,549 (GRCm39) missense probably benign 0.00
R4044:Rpp40 UTSW 13 36,082,549 (GRCm39) missense probably benign 0.00
R4118:Rpp40 UTSW 13 36,080,787 (GRCm39) missense probably damaging 1.00
R5068:Rpp40 UTSW 13 36,082,681 (GRCm39) missense probably benign 0.00
R5181:Rpp40 UTSW 13 36,080,695 (GRCm39) splice site probably null
R7916:Rpp40 UTSW 13 36,086,034 (GRCm39) missense probably benign 0.03
R9194:Rpp40 UTSW 13 36,080,898 (GRCm39) missense probably benign 0.02
Z1191:Rpp40 UTSW 13 36,080,739 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TGTACACAGAAAAGCTTGGGC -3'
(R):5'- CTGTTAACCCAAAAGGGAGCAG -3'

Sequencing Primer
(F):5'- AGGTTGATATGAAGTTATAAGGCTCG -3'
(R):5'- CCAGCTATATACTGAGAGCCTGTG -3'
Posted On 2019-05-13