Incidental Mutation 'R0190:Rpf2'
ID 23175
Institutional Source Beutler Lab
Gene Symbol Rpf2
Ensembl Gene ENSMUSG00000038510
Gene Name ribosome production factor 2 homolog
Synonyms 2810470K21Rik, Bxdc1
MMRRC Submission 038451-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R0190 (G1)
Quality Score 196
Status Not validated
Chromosome 10
Chromosomal Location 40099242-40123032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 40103597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 106 (H106P)
Ref Sequence ENSEMBL: ENSMUSP00000138750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045114] [ENSMUST00000181995] [ENSMUST00000183052] [ENSMUST00000183114] [ENSMUST00000183309]
AlphaFold Q9JJ80
Predicted Effect probably damaging
Transcript: ENSMUST00000045114
AA Change: H152P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035456
Gene: ENSMUSG00000038510
AA Change: H152P

DomainStartEndE-ValueType
Brix 1 195 3.25e-51 SMART
low complexity region 208 219 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000181995
AA Change: H159P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138425
Gene: ENSMUSG00000038510
AA Change: H159P

DomainStartEndE-ValueType
Brix 34 202 8.11e-29 SMART
low complexity region 215 226 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182287
Predicted Effect probably damaging
Transcript: ENSMUST00000183052
AA Change: H132P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138646
Gene: ENSMUSG00000038510
AA Change: H132P

DomainStartEndE-ValueType
Brix 34 175 6.08e-10 SMART
low complexity region 188 199 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183114
AA Change: H106P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138750
Gene: ENSMUSG00000038510
AA Change: H106P

DomainStartEndE-ValueType
Brix 3 149 1.26e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183309
AA Change: H185P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138581
Gene: ENSMUSG00000038510
AA Change: H185P

DomainStartEndE-ValueType
Brix 34 228 3.25e-51 SMART
low complexity region 241 252 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191714
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 91.6%
  • 20x: 72.5%
Validation Efficiency 75% (45/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,429 (GRCm39) probably null Het
Aff2 CA CAAA X: 68,892,711 (GRCm39) probably null Het
Ankrd34a A G 3: 96,505,105 (GRCm39) D103G probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
Atxn10 A G 15: 85,220,730 (GRCm39) D22G possibly damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Caskin1 C T 17: 24,723,596 (GRCm39) L795F possibly damaging Het
Cdk12 T C 11: 98,132,657 (GRCm39) probably null Het
Crtc2 A G 3: 90,166,716 (GRCm39) H91R probably damaging Het
Dbt A G 3: 116,332,736 (GRCm39) probably null Het
Dda1 C A 8: 71,924,877 (GRCm39) Y41* probably null Het
Dnah2 T A 11: 69,326,075 (GRCm39) D3692V probably damaging Het
Dpep1 A G 8: 123,927,447 (GRCm39) T334A probably benign Het
Enthd1 C T 15: 80,418,695 (GRCm39) probably null Het
Fpr-rs6 T A 17: 20,402,741 (GRCm39) I207F probably benign Het
Fsip2 T A 2: 82,815,521 (GRCm39) S3751R possibly damaging Het
Gigyf2 A T 1: 87,356,410 (GRCm39) probably benign Het
Gtf3c4 C A 2: 28,730,140 (GRCm39) D34Y probably benign Het
Iftap G A 2: 101,416,775 (GRCm39) S58L probably benign Het
Igfn1 A T 1: 135,889,790 (GRCm39) V2419E probably damaging Het
Kank1 A T 19: 25,386,647 (GRCm39) I79L probably benign Het
Kif21b A G 1: 136,098,957 (GRCm39) H1415R probably benign Het
Mad2l1 T C 6: 66,516,862 (GRCm39) S185P possibly damaging Het
Mettl18 A G 1: 163,823,991 (GRCm39) E104G probably damaging Het
Mrgprb2 G A 7: 48,202,525 (GRCm39) H67Y possibly damaging Het
Mrgprd G A 7: 144,875,439 (GRCm39) M103I probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Nucks1 A G 1: 131,852,329 (GRCm39) D60G probably damaging Het
Or10g7 A G 9: 39,905,840 (GRCm39) I245V probably benign Het
Or13f5 G C 4: 52,825,613 (GRCm39) W72S probably damaging Het
Or4a72 T A 2: 89,405,302 (GRCm39) Y256F probably damaging Het
Paqr8 A G 1: 21,005,271 (GRCm39) T142A probably benign Het
Pdss1 T C 2: 22,796,843 (GRCm39) S119P probably damaging Het
Plcl2 A G 17: 50,914,671 (GRCm39) D560G probably benign Het
Ppm1b T A 17: 85,301,531 (GRCm39) V137E probably damaging Het
Ppp1r16b A C 2: 158,537,983 (GRCm39) K35Q probably damaging Het
Prkd2 A T 7: 16,603,815 (GRCm39) E832V probably damaging Het
Rab34 G T 11: 78,082,232 (GRCm39) K191N possibly damaging Het
Rad51ap2 A C 12: 11,508,540 (GRCm39) T821P probably benign Het
Rbm19 A G 5: 120,282,111 (GRCm39) T823A probably benign Het
Schip1 A G 3: 68,533,177 (GRCm39) M453V probably benign Het
Sema5a T A 15: 32,562,920 (GRCm39) N310K possibly damaging Het
Sf3b1 T C 1: 55,029,465 (GRCm39) D1179G probably damaging Het
Skint2 A T 4: 112,473,729 (GRCm39) T4S possibly damaging Het
Slc22a5 A T 11: 53,760,241 (GRCm39) Y358* probably null Het
Slc34a1 T C 13: 55,556,914 (GRCm39) M251T probably benign Het
Slc44a5 A G 3: 153,944,755 (GRCm39) D124G probably null Het
Slc9b1 G A 3: 135,063,434 (GRCm39) E73K unknown Het
Ssbp2 T C 13: 91,817,829 (GRCm39) L156P probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Trim47 A G 11: 115,997,053 (GRCm39) V568A probably damaging Het
Ttn A T 2: 76,718,324 (GRCm39) probably benign Het
Ttpa A T 4: 20,021,260 (GRCm39) I74F probably damaging Het
Vmn2r52 T C 7: 9,905,315 (GRCm39) I175V probably benign Het
Wrn C T 8: 33,731,011 (GRCm39) C1350Y probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp422 A T 6: 116,603,572 (GRCm39) D142E probably damaging Het
Zfp473 A T 7: 44,382,612 (GRCm39) C574S probably damaging Het
Zfp638 T A 6: 83,905,946 (GRCm39) M37K probably damaging Het
Zfp976 C A 7: 42,291,948 (GRCm39) probably benign Het
Other mutations in Rpf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00800:Rpf2 APN 10 40,115,755 (GRCm39) nonsense probably null
R1880:Rpf2 UTSW 10 40,109,154 (GRCm39) missense possibly damaging 0.52
R1912:Rpf2 UTSW 10 40,112,197 (GRCm39) missense probably benign 0.22
R2989:Rpf2 UTSW 10 40,115,749 (GRCm39) missense probably benign 0.02
R4401:Rpf2 UTSW 10 40,112,124 (GRCm39) missense possibly damaging 0.91
R4843:Rpf2 UTSW 10 40,122,998 (GRCm39) unclassified probably benign
R5092:Rpf2 UTSW 10 40,122,971 (GRCm39) start codon destroyed probably null 0.63
R5394:Rpf2 UTSW 10 40,109,181 (GRCm39) missense possibly damaging 0.48
R5473:Rpf2 UTSW 10 40,103,627 (GRCm39) missense possibly damaging 0.64
R7999:Rpf2 UTSW 10 40,099,880 (GRCm39) missense probably damaging 1.00
R8425:Rpf2 UTSW 10 40,101,429 (GRCm39) nonsense probably null
R8446:Rpf2 UTSW 10 40,115,752 (GRCm39) missense probably benign 0.35
R9304:Rpf2 UTSW 10 40,119,850 (GRCm39) critical splice donor site probably null
R9423:Rpf2 UTSW 10 40,101,336 (GRCm39) missense possibly damaging 0.94
Z1176:Rpf2 UTSW 10 40,119,868 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGCTCACAATAGATGACCAGGAACC -3'
(R):5'- ACTCAAGGGCTAGTTGTGTGCTTC -3'

Sequencing Primer
(F):5'- CCCAGGAAGAGTGAGTTCCC -3'
(R):5'- CAGCTTGGTCATAGTCCAGGTG -3'
Posted On 2013-04-16