Incidental Mutation 'R8491:Rpp14'
ID 658011
Institutional Source Beutler Lab
Gene Symbol Rpp14
Ensembl Gene ENSMUSG00000023156
Gene Name ribonuclease P 14 subunit
Synonyms 2610511E03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R8491 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 8080367-8091834 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8083925 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 27 (Q27L)
Ref Sequence ENSEMBL: ENSMUSP00000023924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023924]
AlphaFold Q9CQH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000023924
AA Change: Q27L

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023924
Gene: ENSMUSG00000023156
AA Change: Q27L

DomainStartEndE-ValueType
Pfam:RNase_P_Rpp14 8 109 1.8e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aard A T 15: 52,040,312 I44F unknown Het
Agap1 A G 1: 89,609,572 E100G probably damaging Het
Aoc3 G T 11: 101,332,216 R426L probably benign Het
Aspm T G 1: 139,457,695 L359R probably damaging Het
Atp8b2 A G 3: 89,958,369 S75P probably damaging Het
Bcl9l A G 9: 44,500,768 E17G probably benign Het
Casc3 G T 11: 98,823,151 R403L probably benign Het
Cdh16 T C 8: 104,617,049 D605G probably damaging Het
Cdh2 A G 18: 16,624,718 probably null Het
Cers5 T A 15: 99,740,950 K161N probably damaging Het
Cfap57 C T 4: 118,614,931 V84I probably benign Het
Cntnap3 A T 13: 64,785,343 D454E probably damaging Het
Cxcl15 T A 5: 90,795,230 C30* probably null Het
Cyp4a12a C A 4: 115,301,453 probably null Het
Dlc1 A T 8: 36,584,846 I577N probably benign Het
Dusp6 C A 10: 99,266,219 R210S possibly damaging Het
Faxc T A 4: 21,993,319 M321K probably damaging Het
Fez2 C A 17: 78,384,771 V340L probably benign Het
G530012D18Rik C G 1: 85,577,214 D113E unknown Het
Gdnf A G 15: 7,834,791 I228V possibly damaging Het
Gm12258 A G 11: 58,854,296 T18A Het
Gm5460 T C 14: 34,039,783 L194P probably damaging Het
Gm6040 T G 8: 20,917,119 R28S possibly damaging Het
Gmps A G 3: 64,014,358 E594G probably benign Het
Hspg2 T C 4: 137,553,719 V3334A probably benign Het
Idh3a T C 9: 54,599,679 probably null Het
Ins1 A G 19: 52,264,370 probably benign Het
Mug1 A T 6: 121,882,729 D1229V probably damaging Het
Ndufs1 T C 1: 63,157,225 D347G probably damaging Het
Olfr1061 A G 2: 86,413,755 I99T probably benign Het
Olfr653 G A 7: 104,580,035 V130I probably damaging Het
Pclo C A 5: 14,515,230 N3K unknown Het
Pigl A G 11: 62,473,467 R112G probably null Het
Prkcq T C 2: 11,279,524 Y502H probably damaging Het
Psg16 T C 7: 17,090,512 Y74H probably damaging Het
Psme4 G A 11: 30,772,161 G60D possibly damaging Het
Serpini2 A C 3: 75,252,515 C315G probably damaging Het
Slitrk3 A G 3: 73,051,259 I60T possibly damaging Het
Svil T C 18: 5,106,678 Y1436H probably damaging Het
Tmem245 T C 4: 56,906,261 Q548R probably benign Het
Tob1 A G 11: 94,214,289 D217G probably benign Het
Trim21 A C 7: 102,559,482 D343E probably benign Het
Triobp C T 15: 78,994,126 H1750Y possibly damaging Het
Trmt13 T C 3: 116,582,579 R388G probably benign Het
Ubqlnl A G 7: 104,149,375 V305A probably benign Het
Ushbp1 A G 8: 71,392,397 V244A probably benign Het
Vdac2 T A 14: 21,837,770 N60K possibly damaging Het
Vwa5a A G 9: 38,741,180 E753G probably damaging Het
Washc4 A G 10: 83,576,123 D706G probably benign Het
Zbtb5 T C 4: 44,995,090 D98G probably damaging Het
Zfp53 A G 17: 21,509,359 I551M probably benign Het
Zfp958 G T 8: 4,626,215 R61I probably damaging Het
Other mutations in Rpp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Rpp14 APN 14 8083934 missense possibly damaging 0.78
IGL00424:Rpp14 APN 14 8083934 missense possibly damaging 0.78
IGL00478:Rpp14 APN 14 8083934 missense possibly damaging 0.78
IGL00538:Rpp14 APN 14 8083934 missense possibly damaging 0.78
R1167:Rpp14 UTSW 14 8083705 splice site probably null
R1499:Rpp14 UTSW 14 8090528 missense probably benign 0.18
R1874:Rpp14 UTSW 14 8090145 missense probably benign
R4778:Rpp14 UTSW 14 8090203 missense probably benign 0.08
R5222:Rpp14 UTSW 14 8087513 missense probably damaging 0.96
R5561:Rpp14 UTSW 14 8090558 splice site probably null
R6015:Rpp14 UTSW 14 8090462 missense probably benign 0.00
R6801:Rpp14 UTSW 14 8083717 start gained probably benign
R7643:Rpp14 UTSW 14 8090325 nonsense probably null
R7685:Rpp14 UTSW 14 8090453 missense probably damaging 0.98
R7872:Rpp14 UTSW 14 8083724 start codon destroyed probably null 0.00
R8259:Rpp14 UTSW 14 8090526 missense probably null 0.94
R8973:Rpp14 UTSW 14 8088768 missense probably benign
R9035:Rpp14 UTSW 14 8083772 missense possibly damaging 0.92
Z1088:Rpp14 UTSW 14 8090539 missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGATGCCAGCGACTGCATATG -3'
(R):5'- ACAGGTACAACTAGGCCCAAGG -3'

Sequencing Primer
(F):5'- GAAAGAGTAGTTTACAAGAGCCCCTC -3'
(R):5'- AAGGTAGGCCATGATTCCCC -3'
Posted On 2021-01-18