Incidental Mutation 'R0369:Mrps5'
ID 65592
Institutional Source Beutler Lab
Gene Symbol Mrps5
Ensembl Gene ENSMUSG00000027374
Gene Name mitochondrial ribosomal protein S5
Synonyms
MMRRC Submission 038575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0369 (G1)
Quality Score 148
Status Not validated
Chromosome 2
Chromosomal Location 127429346-127445906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127433749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 46 (R46K)
Ref Sequence ENSEMBL: ENSMUSP00000119674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028852] [ENSMUST00000110366] [ENSMUST00000146131]
AlphaFold Q99N87
Predicted Effect probably benign
Transcript: ENSMUST00000028852
AA Change: R54K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: R54K

DomainStartEndE-ValueType
low complexity region 108 126 N/A INTRINSIC
Pfam:Ribosomal_S5 220 285 3.5e-20 PFAM
Pfam:Ribosomal_S5_C 297 368 4.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110366
SMART Domains Protein: ENSMUSP00000105995
Gene: ENSMUSG00000034800

DomainStartEndE-ValueType
KRAB 14 74 1.33e-28 SMART
ZnF_C2H2 169 191 1.12e-3 SMART
ZnF_C2H2 197 219 6.42e-4 SMART
ZnF_C2H2 225 247 7.37e-4 SMART
ZnF_C2H2 253 275 9.22e-5 SMART
ZnF_C2H2 281 303 9.73e-4 SMART
ZnF_C2H2 309 331 1.04e-3 SMART
ZnF_C2H2 337 359 5.67e-5 SMART
ZnF_C2H2 365 387 5.99e-4 SMART
ZnF_C2H2 393 413 4.94e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134101
Predicted Effect probably benign
Transcript: ENSMUST00000146131
AA Change: R46K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119674
Gene: ENSMUSG00000027374
AA Change: R46K

DomainStartEndE-ValueType
low complexity region 100 118 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik G A 9: 114,129,077 (GRCm39) noncoding transcript Het
Aadacl2 T A 3: 59,932,143 (GRCm39) Y219* probably null Het
Adamts13 C A 2: 26,895,198 (GRCm39) D1096E probably benign Het
Adamts16 T G 13: 70,927,671 (GRCm39) K523Q possibly damaging Het
Adcy2 A G 13: 68,820,019 (GRCm39) F740S probably benign Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Ccdc97 T C 7: 25,413,833 (GRCm39) T283A probably damaging Het
Cmpk2 G T 12: 26,527,150 (GRCm39) E380* probably null Het
Csmd3 A G 15: 47,833,543 (GRCm39) I911T probably damaging Het
Cyp2c39 T C 19: 39,502,079 (GRCm39) L156P probably damaging Het
D7Ertd443e T C 7: 133,899,866 (GRCm39) I499V possibly damaging Het
Dhx58 A C 11: 100,592,374 (GRCm39) probably null Het
Dip2a C T 10: 76,134,621 (GRCm39) G390S probably damaging Het
Dusp10 A G 1: 183,801,253 (GRCm39) D340G probably damaging Het
Epha1 A T 6: 42,342,407 (GRCm39) C314S probably damaging Het
Exph5 A T 9: 53,284,602 (GRCm39) H561L probably benign Het
Fbxw26 A G 9: 109,552,780 (GRCm39) probably null Het
Foxc1 A C 13: 31,991,495 (GRCm39) N102T probably damaging Het
Fsip2 T C 2: 82,814,908 (GRCm39) I3547T probably benign Het
Gm5464 G T 14: 67,106,774 (GRCm39) probably benign Het
Gnptab C T 10: 88,269,456 (GRCm39) R720C possibly damaging Het
Greb1l T C 18: 10,469,375 (GRCm39) V130A possibly damaging Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Hnrnpul2 C A 19: 8,801,777 (GRCm39) D328E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift172 T C 5: 31,410,985 (GRCm39) Y1691C probably damaging Het
Kremen2 T C 17: 23,961,784 (GRCm39) D241G probably benign Het
Meis2 T C 2: 115,893,897 (GRCm39) D5G possibly damaging Het
Myh14 C T 7: 44,310,374 (GRCm39) V170M probably damaging Het
Nexn T C 3: 151,953,894 (GRCm39) N123D probably benign Het
Or11g26 T A 14: 50,753,282 (GRCm39) M207K probably benign Het
Or4d11 A T 19: 12,013,765 (GRCm39) S114T probably benign Het
Or51l14 T A 7: 103,101,423 (GRCm39) I293N probably damaging Het
Pacs1 C T 19: 5,191,726 (GRCm39) V704M probably damaging Het
Papolg A G 11: 23,822,425 (GRCm39) probably null Het
Pdlim3 T C 8: 46,370,543 (GRCm39) V281A probably benign Het
Plpp4 T G 7: 128,925,190 (GRCm39) F142V probably damaging Het
Prb1a G A 6: 132,184,620 (GRCm39) Q338* probably null Het
Psg26 G T 7: 18,216,481 (GRCm39) Y119* probably null Het
Ptger4 A G 15: 5,272,491 (GRCm39) C68R probably benign Het
Ptpre T A 7: 135,272,444 (GRCm39) I399N probably damaging Het
Ripply2 A G 9: 86,898,372 (GRCm39) Y72C probably damaging Het
Rp1l1 T A 14: 64,266,837 (GRCm39) S808T possibly damaging Het
Scn5a G A 9: 119,362,838 (GRCm39) T594I probably damaging Het
Sf3b1 T C 1: 55,037,267 (GRCm39) D883G probably benign Het
Skint5 A T 4: 113,369,220 (GRCm39) probably null Het
Terf1 A G 1: 15,889,207 (GRCm39) H212R probably damaging Het
Tmco5 T G 2: 116,711,269 (GRCm39) probably null Het
Tnfaip3 A T 10: 18,882,660 (GRCm39) Y252* probably null Het
Tnrc6a T A 7: 122,770,083 (GRCm39) N624K probably damaging Het
Top3a C A 11: 60,633,615 (GRCm39) R827L probably damaging Het
Unc79 G A 12: 103,055,031 (GRCm39) probably null Het
Usp20 T C 2: 30,901,116 (GRCm39) S422P probably benign Het
Utrn T C 10: 12,509,766 (GRCm39) E2402G probably benign Het
Wdr3 G A 3: 100,063,734 (GRCm39) Q181* probably null Het
Zfp536 T C 7: 37,267,373 (GRCm39) E681G probably damaging Het
Zfp91 C T 19: 12,747,438 (GRCm39) V562I possibly damaging Het
Zfp942 A T 17: 22,148,017 (GRCm39) I204N probably benign Het
Other mutations in Mrps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Mrps5 APN 2 127,433,827 (GRCm39) missense probably null 0.01
IGL03348:Mrps5 APN 2 127,443,305 (GRCm39) missense probably damaging 0.98
R0485:Mrps5 UTSW 2 127,433,745 (GRCm39) missense possibly damaging 0.56
R0622:Mrps5 UTSW 2 127,436,451 (GRCm39) missense probably benign 0.00
R1954:Mrps5 UTSW 2 127,438,817 (GRCm39) splice site probably null
R2182:Mrps5 UTSW 2 127,444,407 (GRCm39) missense probably damaging 1.00
R3414:Mrps5 UTSW 2 127,438,832 (GRCm39) missense probably benign 0.38
R4007:Mrps5 UTSW 2 127,433,755 (GRCm39) missense possibly damaging 0.81
R4687:Mrps5 UTSW 2 127,432,690 (GRCm39) missense probably benign 0.44
R4780:Mrps5 UTSW 2 127,440,161 (GRCm39) missense probably benign 0.00
R4835:Mrps5 UTSW 2 127,445,627 (GRCm39) missense possibly damaging 0.84
R4851:Mrps5 UTSW 2 127,432,665 (GRCm39) missense probably benign 0.00
R5076:Mrps5 UTSW 2 127,442,772 (GRCm39) nonsense probably null
R5558:Mrps5 UTSW 2 127,444,355 (GRCm39) missense probably damaging 1.00
R6192:Mrps5 UTSW 2 127,443,305 (GRCm39) missense probably damaging 0.98
R7038:Mrps5 UTSW 2 127,442,786 (GRCm39) missense probably damaging 1.00
R7071:Mrps5 UTSW 2 127,442,772 (GRCm39) nonsense probably null
R7103:Mrps5 UTSW 2 127,443,330 (GRCm39) missense probably damaging 0.99
R7177:Mrps5 UTSW 2 127,437,617 (GRCm39) missense probably benign
R7319:Mrps5 UTSW 2 127,437,762 (GRCm39) missense possibly damaging 0.94
R7387:Mrps5 UTSW 2 127,442,804 (GRCm39) missense probably damaging 1.00
R7460:Mrps5 UTSW 2 127,433,811 (GRCm39) missense not run
R8211:Mrps5 UTSW 2 127,445,644 (GRCm39) missense probably benign
R9052:Mrps5 UTSW 2 127,433,876 (GRCm39) splice site probably benign
R9358:Mrps5 UTSW 2 127,437,734 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- TGCAGCTCTGTAACTAGCAGAGACAT -3'
(R):5'- GGGGTGGCTATATCAAGGAATGCTTTTA -3'

Sequencing Primer
(F):5'- agccacctctcctgccc -3'
(R):5'- AAATACAAACACATTCCATTTTCTGG -3'
Posted On 2013-08-08