Incidental Mutation 'R4929:Pop4'
ID 381088
Institutional Source Beutler Lab
Gene Symbol Pop4
Ensembl Gene ENSMUSG00000030423
Gene Name processing of precursor 4, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms Rpp29, 1110023P21Rik
MMRRC Submission 042530-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4929 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 37962239-37970803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37965573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 115 (C115R)
Ref Sequence ENSEMBL: ENSMUSP00000032585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032585] [ENSMUST00000205753] [ENSMUST00000205899] [ENSMUST00000206221]
AlphaFold Q9CR08
Predicted Effect probably damaging
Transcript: ENSMUST00000032585
AA Change: C115R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032585
Gene: ENSMUSG00000030423
AA Change: C115R

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000205959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206045
Predicted Effect probably benign
Transcript: ENSMUST00000206221
Meta Mutation Damage Score 0.8101 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (66/66)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,273,467 (GRCm39) noncoding transcript Het
Abcd3 A T 3: 121,562,395 (GRCm39) probably null Het
Adamts12 C T 15: 11,259,108 (GRCm39) R551C probably damaging Het
Adamtsl4 A G 3: 95,585,315 (GRCm39) C818R probably damaging Het
Arfgef3 T A 10: 18,506,599 (GRCm39) Q842L probably benign Het
Aurka A T 2: 172,212,326 (GRCm39) V17E probably benign Het
Cdh24 C T 14: 54,870,973 (GRCm39) V132I probably benign Het
Cep57l1 T C 10: 41,621,910 (GRCm39) D2G possibly damaging Het
Cntn5 T A 9: 9,976,400 (GRCm39) probably null Het
Col10a1 T C 10: 34,271,120 (GRCm39) I364T probably benign Het
Dpp6 G A 5: 27,254,785 (GRCm39) A67T probably benign Het
Dym T A 18: 75,376,357 (GRCm39) V583E probably damaging Het
Efcab5 T G 11: 76,994,209 (GRCm39) K1259N probably benign Het
Ehbp1 T G 11: 22,189,169 (GRCm39) I78L possibly damaging Het
Epha1 C A 6: 42,341,533 (GRCm39) A469S probably benign Het
Fam135a T C 1: 24,069,081 (GRCm39) D596G probably benign Het
Filip1 T C 9: 79,727,029 (GRCm39) N530S probably benign Het
Gm57858 G A 3: 36,089,487 (GRCm39) L146F probably damaging Het
Grhl2 A G 15: 37,361,046 (GRCm39) N610S probably benign Het
Haus6 T C 4: 86,513,670 (GRCm39) I331V probably benign Het
Ints2 G T 11: 86,103,479 (GRCm39) N1192K possibly damaging Het
Itga5 A G 15: 103,261,662 (GRCm39) V445A probably benign Het
Itga9 C A 9: 118,636,317 (GRCm39) D82E probably damaging Het
Jam2 G A 16: 84,619,750 (GRCm39) probably benign Het
Klhl32 T A 4: 24,709,030 (GRCm39) I112F probably damaging Het
Lepr A G 4: 101,672,314 (GRCm39) I1113V probably benign Het
Lrrc3b C A 14: 15,357,888 (GRCm38) L239F probably damaging Het
Lzic T A 4: 149,572,585 (GRCm39) probably null Het
Mxra8 T A 4: 155,927,118 (GRCm39) F351I probably damaging Het
Naa40 A G 19: 7,207,347 (GRCm39) F126L probably damaging Het
Nbeal1 C T 1: 60,277,813 (GRCm39) S733F probably damaging Het
Olr1 T C 6: 129,477,044 (GRCm39) T74A probably damaging Het
Or52x1 A G 7: 104,853,232 (GRCm39) I106T probably damaging Het
Or5aq7 A G 2: 86,938,527 (GRCm39) F68S possibly damaging Het
Or5h17 A C 16: 58,820,582 (GRCm39) Y178S probably damaging Het
Pgam5 A T 5: 110,413,691 (GRCm39) V130D probably damaging Het
Prpf18 A T 2: 4,629,348 (GRCm39) probably null Het
Psg16 G A 7: 16,829,031 (GRCm39) R205H possibly damaging Het
Ptgr1 C A 4: 58,981,879 (GRCm39) A53S probably benign Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slfn10-ps A G 11: 82,920,345 (GRCm39) noncoding transcript Het
Sox8 G A 17: 25,789,330 (GRCm39) A56V probably benign Het
Ssr3 A G 3: 65,295,175 (GRCm39) S113P probably damaging Het
Stx16 T C 2: 173,938,721 (GRCm39) Y296H possibly damaging Het
Tfcp2 A T 15: 100,426,370 (GRCm39) N60K probably benign Het
Thada T C 17: 84,751,654 (GRCm39) T441A probably benign Het
Trf G T 9: 103,105,074 (GRCm39) probably benign Het
Vamp2 T A 11: 68,979,488 (GRCm39) probably benign Het
Vmn2r105 A T 17: 20,448,280 (GRCm39) D181E probably benign Het
Vmn2r12 A T 5: 109,239,544 (GRCm39) Y340N probably damaging Het
Wasf2 C A 4: 132,923,170 (GRCm39) D493E unknown Het
Wdfy4 T C 14: 32,769,213 (GRCm39) D2084G possibly damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfp703 T A 8: 27,468,879 (GRCm39) V181E possibly damaging Het
Other mutations in Pop4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Pop4 APN 7 37,963,820 (GRCm39) missense probably benign 0.01
IGL03030:Pop4 APN 7 37,962,730 (GRCm39) missense probably damaging 1.00
R0172:Pop4 UTSW 7 37,962,679 (GRCm39) missense probably damaging 1.00
R1167:Pop4 UTSW 7 37,962,693 (GRCm39) missense probably benign 0.34
R8463:Pop4 UTSW 7 37,962,599 (GRCm39) makesense probably null
R8516:Pop4 UTSW 7 37,966,826 (GRCm39) missense probably benign 0.00
R8863:Pop4 UTSW 7 37,962,649 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CTTGGCCTGAATCATCTGTGG -3'
(R):5'- TACTTGGCACTTTGGAGAGC -3'

Sequencing Primer
(F):5'- AATCATCTGTGGCTGCCTAG -3'
(R):5'- ACTTTGGAGAGCCTTGGCCTC -3'
Posted On 2016-04-15