Incidental Mutation 'R7679:Rpp25l'
ID 592625
Institutional Source Beutler Lab
Gene Symbol Rpp25l
Ensembl Gene ENSMUSG00000036114
Gene Name ribonuclease P/MRP 25 subunit-like
MMRRC Submission 045707-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # R7679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41712033-41713534 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 41712326 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 150 (C150G)
Ref Sequence ENSEMBL: ENSMUSP00000041477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030158] [ENSMUST00000038434] [ENSMUST00000108041] [ENSMUST00000171641]
AlphaFold Q99JH1
Predicted Effect probably benign
Transcript: ENSMUST00000030158
SMART Domains Protein: ENSMUSP00000030158
Gene: ENSMUSG00000028447

Pfam:Dynactin_p22 6 170 2.8e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000038434
AA Change: C150G
SMART Domains Protein: ENSMUSP00000041477
Gene: ENSMUSG00000036114
AA Change: C150G

Pfam:Alba 26 90 8.2e-16 PFAM
low complexity region 144 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108041
SMART Domains Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171641
SMART Domains Protein: ENSMUSP00000130988
Gene: ENSMUSG00000028447

Pfam:Dynactin_p22 1 149 1.4e-63 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A C 14: 78,514,816 (GRCm38) Y206D Het
Atm A T 9: 53,442,497 (GRCm38) I2906N probably damaging Het
B4galnt4 T C 7: 141,067,765 (GRCm38) V422A probably benign Het
Bod1l TTCAGGGATC TTC 5: 41,820,643 (GRCm38) probably null Het
Ccar2 G A 14: 70,139,235 (GRCm38) Q887* probably null Het
Cdh13 A G 8: 119,236,919 (GRCm38) I413V probably benign Het
Cfap54 A G 10: 92,967,512 (GRCm38) V1556A probably benign Het
Chchd7 A T 4: 3,941,297 (GRCm38) N14Y probably damaging Het
Col24a1 C A 3: 145,399,355 (GRCm38) T824N possibly damaging Het
Col6a3 A T 1: 90,811,751 (GRCm38) Y859N possibly damaging Het
Dnaaf5 C T 5: 139,150,637 (GRCm38) P131S unknown Het
Erh T C 12: 80,637,571 (GRCm38) N44S probably benign Het
Esm1 T A 13: 113,210,112 (GRCm38) D90E probably damaging Het
Fbxo44 A G 4: 148,153,632 (GRCm38) F213L probably benign Het
Flnc A G 6: 29,456,790 (GRCm38) T2262A probably benign Het
Fmo9 T C 1: 166,667,489 (GRCm38) Q281R probably benign Het
Gdpgp1 G T 7: 80,238,576 (GRCm38) E118D probably benign Het
Gnas A T 2: 174,284,831 (GRCm38) Q53L probably damaging Het
Gpr142 G A 11: 114,806,707 (GRCm38) V360M possibly damaging Het
Grn A G 11: 102,433,069 (GRCm38) D46G probably benign Het
H2-T10 A G 17: 36,119,324 (GRCm38) F242L not run Het
Hgsnat T C 8: 25,954,637 (GRCm38) T428A probably damaging Het
Hoxa9 A G 6: 52,224,308 (GRCm38) I251T probably damaging Het
Inpp5f C T 7: 128,694,523 (GRCm38) T866I possibly damaging Het
Itgb1 T A 8: 128,720,448 (GRCm38) N481K probably damaging Het
Leng9 C A 7: 4,149,660 (GRCm38) D6Y probably benign Het
Lox A C 18: 52,525,106 (GRCm38) F332V possibly damaging Het
Lrp1 G T 10: 127,588,428 (GRCm38) Y796* probably null Het
Lrrc32 G A 7: 98,499,687 (GRCm38) G558D possibly damaging Het
Lrrk2 A G 15: 91,726,186 (GRCm38) E707G possibly damaging Het
Matn4 A G 2: 164,389,658 (GRCm38) *625R probably null Het
Mcur1 T A 13: 43,544,483 (GRCm38) K314* probably null Het
Med1 G C 11: 98,156,061 (GRCm38) P1303R unknown Het
Mgam T C 6: 40,643,046 (GRCm38) L23P probably damaging Het
Muc6 G C 7: 141,637,746 (GRCm38) P2338R probably damaging Het
Nfatc1 T C 18: 80,607,990 (GRCm38) I936V probably benign Het
Nol11 T C 11: 107,173,316 (GRCm38) S557G probably benign Het
Palb2 A G 7: 122,128,014 (GRCm38) I211T probably benign Het
Pard3 T C 8: 127,371,846 (GRCm38) V456A probably benign Het
Pax2 G A 19: 44,760,937 (GRCm38) V40M probably damaging Het
Pik3cb T C 9: 99,088,607 (GRCm38) K344E probably benign Het
Pik3r3 T A 4: 116,256,195 (GRCm38) M45K probably benign Het
Plat G T 8: 22,772,232 (GRCm38) G91W probably damaging Het
Pot1a A G 6: 25,771,634 (GRCm38) V196A probably benign Het
Ppp1r32 T C 19: 10,482,254 (GRCm38) T30A probably damaging Het
Prkdc T A 16: 15,831,319 (GRCm38) I3719N probably damaging Het
Psg16 G A 7: 17,093,760 (GRCm38) G123S probably damaging Het
Psme4 A G 11: 30,878,425 (GRCm38) D1815G probably damaging Het
Rpe65 C T 3: 159,604,393 (GRCm38) T101I probably damaging Het
Serpina1b A T 12: 103,730,515 (GRCm38) W212R probably damaging Het
Slc9a3 G A 13: 74,160,276 (GRCm38) R466H possibly damaging Het
Sned1 T C 1: 93,236,038 (GRCm38) L17P unknown Het
Speg C T 1: 75,406,315 (GRCm38) T1056I probably damaging Het
Tada1 T C 1: 166,391,971 (GRCm38) F281L probably benign Het
Tbcd G A 11: 121,603,708 (GRCm38) V1032I probably benign Het
Tlr3 A T 8: 45,399,051 (GRCm38) S270T probably benign Het
Txndc15 G T 13: 55,725,808 (GRCm38) R327L probably damaging Het
Zfp169 G C 13: 48,498,383 (GRCm38) L66V probably damaging Het
Zfp442 G T 2: 150,410,997 (GRCm38) Y45* probably null Het
Zzef1 A G 11: 72,893,278 (GRCm38) D2003G probably benign Het
Other mutations in Rpp25l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03196:Rpp25l APN 4 41,712,541 (GRCm38) missense possibly damaging 0.65
R1742:Rpp25l UTSW 4 41,712,763 (GRCm38) missense probably damaging 1.00
R5768:Rpp25l UTSW 4 41,712,649 (GRCm38) missense probably damaging 0.98
R5858:Rpp25l UTSW 4 41,712,678 (GRCm38) missense probably benign 0.01
R7570:Rpp25l UTSW 4 41,712,529 (GRCm38) missense probably damaging 1.00
R7593:Rpp25l UTSW 4 41,712,305 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-12