Incidental Mutation 'R0211:Rpusd2'
ID66396
Institutional Source Beutler Lab
Gene Symbol Rpusd2
Ensembl Gene ENSMUSG00000027324
Gene NameRNA pseudouridylate synthase domain containing 2
SynonymsBB231107, 4921503C21Rik
MMRRC Submission 038462-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0211 (G1)
Quality Score112
Status Not validated
Chromosome2
Chromosomal Location119034790-119039769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119038412 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 439 (S439G)
Ref Sequence ENSEMBL: ENSMUSP00000028796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028796]
Predicted Effect probably benign
Transcript: ENSMUST00000028796
AA Change: S439G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028796
Gene: ENSMUSG00000027324
AA Change: S439G

DomainStartEndE-ValueType
Blast:S4 174 237 4e-28 BLAST
Pfam:PseudoU_synth_2 244 391 4e-34 PFAM
Coding Region Coverage
  • 1x: 96.9%
  • 3x: 92.1%
  • 10x: 58.4%
  • 20x: 15.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,216,096 L1401P possibly damaging Het
Adgrf1 T C 17: 43,296,690 L100P probably damaging Het
Akt1 T C 12: 112,655,142 T407A probably damaging Het
Arnt T A 3: 95,476,149 M242K probably damaging Het
Atad5 T G 11: 80,095,647 V520G probably benign Het
Cbr2 T A 11: 120,730,788 I88L probably benign Het
Ccdc51 T C 9: 109,089,373 M10T probably benign Het
Cryba1 T A 11: 77,718,867 Y179F probably damaging Het
Dcaf4 T A 12: 83,535,961 F277I probably damaging Het
Ddost G A 4: 138,309,602 V159M probably damaging Het
Dnase2a A G 8: 84,908,788 probably benign Het
Efcc1 A T 6: 87,749,154 T312S probably benign Het
Ermard A T 17: 15,021,943 Q127L probably damaging Het
Ggnbp2 G A 11: 84,840,313 T325M probably damaging Het
Gm8909 T C 17: 36,168,007 T117A probably damaging Het
Ift74 C T 4: 94,679,255 T395I probably benign Het
Irf8 A T 8: 120,739,975 D53V probably damaging Het
Itgad A G 7: 128,204,641 Y69C probably damaging Het
Lpin3 A T 2: 160,898,681 D382V probably damaging Het
Map4k3 C T 17: 80,644,841 A179T probably damaging Het
Nck1 A T 9: 100,497,767 W144R probably damaging Het
Nin T G 12: 70,014,875 T2072P probably damaging Het
Nop2 T G 6: 125,141,344 L529R probably damaging Het
Nynrin T C 14: 55,871,798 F1454S probably benign Het
Olfr1062 A C 2: 86,423,107 S190A probably damaging Het
Olfr1328 T A 4: 118,934,270 M191L probably benign Het
Olfr1453 T C 19: 13,028,282 T16A possibly damaging Het
Pcdhb10 A T 18: 37,414,006 M712L probably benign Het
Pcx C T 19: 4,620,199 A935V probably damaging Het
Pdzd7 A G 19: 45,033,667 V514A possibly damaging Het
Plxnb1 T A 9: 109,103,663 Y568* probably null Het
Rgr T G 14: 37,046,968 T37P probably damaging Het
Slc6a21 A C 7: 45,288,243 T653P possibly damaging Het
Spdef C T 17: 27,714,920 R309H probably damaging Het
Srp68 A T 11: 116,265,551 Y84N probably damaging Het
Tmem63b T A 17: 45,661,913 M652L probably benign Het
Tnk1 A G 11: 69,855,181 V306A probably damaging Het
Tnnc2 T A 2: 164,777,484 I147F probably damaging Het
Tyw3 T C 3: 154,587,495 N181S probably damaging Het
Unc79 T A 12: 103,072,792 S682T probably benign Het
Wasl G T 6: 24,633,893 A124E probably damaging Het
Zfp287 T C 11: 62,714,917 H388R probably damaging Het
Zfp335 T C 2: 164,907,692 T262A probably damaging Het
Zfp457 C G 13: 67,293,147 G359R probably benign Het
Zfp872 T A 9: 22,200,173 I316N probably damaging Het
Other mutations in Rpusd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Rpusd2 APN 2 119035356 missense probably damaging 1.00
IGL02126:Rpusd2 APN 2 119038638 missense probably damaging 0.98
IGL02136:Rpusd2 APN 2 119038178 missense probably damaging 1.00
PIT4618001:Rpusd2 UTSW 2 119038452 missense possibly damaging 0.93
R0211:Rpusd2 UTSW 2 119038412 missense probably benign
R1295:Rpusd2 UTSW 2 119036927 missense probably benign 0.39
R1866:Rpusd2 UTSW 2 119035247 missense probably benign 0.13
R2060:Rpusd2 UTSW 2 119037215 critical splice donor site probably null
R2567:Rpusd2 UTSW 2 119037075 missense probably damaging 1.00
R3963:Rpusd2 UTSW 2 119038604 missense probably benign 0.00
R4133:Rpusd2 UTSW 2 119038715 missense probably damaging 1.00
R4486:Rpusd2 UTSW 2 119035224 missense probably damaging 1.00
R4874:Rpusd2 UTSW 2 119034879 missense probably benign 0.00
R6235:Rpusd2 UTSW 2 119034857 missense probably benign
R6801:Rpusd2 UTSW 2 119035395 missense probably damaging 1.00
Predicted Primers
Posted On2013-08-19