Incidental Mutation 'R8516:Pop4'
ID 656146
Institutional Source Beutler Lab
Gene Symbol Pop4
Ensembl Gene ENSMUSG00000030423
Gene Name processing of precursor 4, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms 1110023P21Rik, Rpp29
MMRRC Submission 067848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 38261996-38271423 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38267402 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 85 (M85K)
Ref Sequence ENSEMBL: ENSMUSP00000032585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032585] [ENSMUST00000205753] [ENSMUST00000205899] [ENSMUST00000206221]
AlphaFold Q9CR08
Predicted Effect probably benign
Transcript: ENSMUST00000032585
AA Change: M85K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000032585
Gene: ENSMUSG00000030423
AA Change: M85K

low complexity region 63 75 N/A INTRINSIC
POP4 125 216 7.94e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205753
Predicted Effect probably benign
Transcript: ENSMUST00000205899
Predicted Effect probably benign
Transcript: ENSMUST00000206221
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for an endonuclease-mediated deletion display complete prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,373 (GRCm38) S22T probably benign Het
Actr8 G T 14: 29,990,899 (GRCm38) A500S probably benign Het
Adamtsl1 A G 4: 86,342,543 (GRCm38) Y1005C probably damaging Het
Ank3 T A 10: 69,927,729 (GRCm38) Y884* probably null Het
Arhgap28 T C 17: 67,873,073 (GRCm38) R306G probably benign Het
Atp8a2 A C 14: 59,691,472 (GRCm38) I1044M probably benign Het
Bahd1 A G 2: 118,916,971 (GRCm38) Y357C probably benign Het
Btd A T 14: 31,666,867 (GRCm38) T182S probably damaging Het
Casc3 C T 11: 98,822,781 (GRCm38) R280C probably damaging Het
Cisd2 T C 3: 135,411,013 (GRCm38) T106A probably damaging Het
Cldn15 G T 5: 136,974,696 (GRCm38) C184F probably damaging Het
Clk4 G A 11: 51,275,261 (GRCm38) R198Q probably damaging Het
Coprs G T 8: 13,885,065 (GRCm38) F163L probably damaging Het
Csmd3 G A 15: 47,629,365 (GRCm38) R2216* probably null Het
Defb7 A T 8: 19,497,607 (GRCm38) I43F possibly damaging Het
Dpp8 C A 9: 65,078,009 (GRCm38) T783K probably damaging Het
Eif2s1 G A 12: 78,881,162 (GRCm38) G204D probably damaging Het
Elavl4 T C 4: 110,251,379 (GRCm38) N56S probably damaging Het
Emilin1 G A 5: 30,917,171 (GRCm38) R252H probably damaging Het
Exd1 A T 2: 119,520,073 (GRCm38) L569Q probably damaging Het
Gm498 T A 7: 143,897,274 (GRCm38) I342N probably damaging Het
Gpn2 C T 4: 133,584,831 (GRCm38) R125C probably damaging Het
Gria2 T C 3: 80,706,987 (GRCm38) E582G probably benign Het
Hadha A T 5: 30,126,584 (GRCm38) V458E probably damaging Het
Hap1 T C 11: 100,356,067 (GRCm38) K4R possibly damaging Het
Hectd4 A T 5: 121,349,010 (GRCm38) H3356L possibly damaging Het
Herc2 G A 7: 56,206,570 (GRCm38) V3919I probably benign Het
Lgr6 G T 1: 135,075,283 (GRCm38) N76K probably damaging Het
Olfr692 A G 7: 105,368,769 (GRCm38) I148V probably benign Het
P4ha3 A G 7: 100,314,662 (GRCm38) M462V probably damaging Het
Pde3b A T 7: 114,526,849 (GRCm38) M773L probably benign Het
Peak1 T C 9: 56,260,000 (GRCm38) S215G probably damaging Het
Pgm5 T A 19: 24,815,710 (GRCm38) M331L probably benign Het
Piwil2 A G 14: 70,420,739 (GRCm38) V213A probably benign Het
Plch2 T C 4: 154,986,307 (GRCm38) H1205R probably benign Het
Ppp3ca T A 3: 136,877,768 (GRCm38) I212N probably damaging Het
Prom1 T C 5: 44,007,099 (GRCm38) K714R probably benign Het
Psip1 C T 4: 83,466,715 (GRCm38) G207S probably benign Het
Rgs22 A G 15: 36,010,335 (GRCm38) *1259Q probably null Het
Scn1a C T 2: 66,326,134 (GRCm38) G477D possibly damaging Het
Sf3b1 T C 1: 55,012,103 (GRCm38) E222G probably null Het
Snrpa1 G A 7: 66,070,633 (GRCm38) G195R probably benign Het
Spem2 T C 11: 69,816,895 (GRCm38) R415G possibly damaging Het
Tmem167 T A 13: 90,098,396 (GRCm38) V13E probably damaging Het
Trim2 C T 3: 84,208,320 (GRCm38) A102T probably damaging Het
Trim30b A G 7: 104,357,404 (GRCm38) S82P probably benign Het
Uba6 A C 5: 86,127,748 (GRCm38) S760R possibly damaging Het
Upf2 T C 2: 6,018,971 (GRCm38) F711L unknown Het
Utrn T A 10: 12,486,510 (GRCm38) D2693V probably damaging Het
Vmn1r30 T G 6: 58,435,124 (GRCm38) Y241S probably damaging Het
Vmn2r110 A G 17: 20,574,613 (GRCm38) L598P probably damaging Het
Wfdc18 T A 11: 83,709,158 (GRCm38) F14Y probably benign Het
Wnt10b A T 15: 98,772,880 (GRCm38) C256S probably damaging Het
Xrn1 T A 9: 96,048,391 (GRCm38) Y1554* probably null Het
Zc3h12a T A 4: 125,119,839 (GRCm38) S411C probably damaging Het
Zfp112 G A 7: 24,123,964 (GRCm38) G63E probably benign Het
Zfp786 A T 6: 47,820,543 (GRCm38) L487Q probably damaging Het
Zfp953 T A 13: 67,345,355 (GRCm38) Y75F possibly damaging Het
Other mutations in Pop4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Pop4 APN 7 38,264,396 (GRCm38) missense probably benign 0.01
IGL03030:Pop4 APN 7 38,263,306 (GRCm38) missense probably damaging 1.00
R0172:Pop4 UTSW 7 38,263,255 (GRCm38) missense probably damaging 1.00
R1167:Pop4 UTSW 7 38,263,269 (GRCm38) missense probably benign 0.34
R4929:Pop4 UTSW 7 38,266,149 (GRCm38) missense probably damaging 1.00
R8463:Pop4 UTSW 7 38,263,175 (GRCm38) makesense probably null
R8863:Pop4 UTSW 7 38,263,225 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-10-20