Incidental Mutation 'R9358:Mrps5'
ID 708496
Institutional Source Beutler Lab
Gene Symbol Mrps5
Ensembl Gene ENSMUSG00000027374
Gene Name mitochondrial ribosomal protein S5
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9358 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 127429346-127445906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127437734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 187 (I187N)
Ref Sequence ENSEMBL: ENSMUSP00000028852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028852] [ENSMUST00000146131]
AlphaFold Q99N87
Predicted Effect probably benign
Transcript: ENSMUST00000028852
AA Change: I187N

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: I187N

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: ENSMUST00000146131
SMART Domains Protein: ENSMUSP00000119674
Gene: ENSMUSG00000027374

DomainStartEndE-ValueType
low complexity region 100 118 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,474,976 (GRCm39) K149* probably null Het
Ap3m2 G A 8: 23,280,959 (GRCm39) S365F possibly damaging Het
Apob T A 12: 8,060,833 (GRCm39) I3105K probably benign Het
Arfgef3 A G 10: 18,492,628 (GRCm39) L1261P probably damaging Het
Armc8 A G 9: 99,450,653 (GRCm39) probably null Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Cachd1 G A 4: 100,833,622 (GRCm39) V800M probably damaging Het
Camta1 A G 4: 151,222,881 (GRCm39) L892P probably damaging Het
Cfap58 C T 19: 47,962,987 (GRCm39) R466* probably null Het
Cilp A G 9: 65,183,269 (GRCm39) Q391R probably benign Het
Cracd A T 5: 77,002,836 (GRCm39) I137F probably damaging Het
Ctcfl T A 2: 172,960,581 (GRCm39) M1L possibly damaging Het
Dnah14 G A 1: 181,536,598 (GRCm39) A2414T probably benign Het
Dnah2 A G 11: 69,406,592 (GRCm39) L550P probably damaging Het
Erich6b T A 14: 75,902,668 (GRCm39) S162T probably benign Het
Fbxw7 C A 3: 84,883,561 (GRCm39) H578Q Het
Fer T C 17: 64,280,076 (GRCm39) L418P possibly damaging Het
Fndc3b A C 3: 27,505,556 (GRCm39) L904R possibly damaging Het
Gabrg1 A T 5: 70,935,422 (GRCm39) I249N possibly damaging Het
Gbe1 T A 16: 70,238,127 (GRCm39) D304E probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpatch4 G T 3: 87,962,452 (GRCm39) E222* probably null Het
Heatr1 A T 13: 12,433,087 (GRCm39) T1146S probably benign Het
Hrc A C 7: 44,985,984 (GRCm39) E378D probably benign Het
Hspg2 G T 4: 137,244,909 (GRCm39) R878L probably damaging Het
Igkv1-122 A G 6: 67,993,756 (GRCm39) M11V probably benign Het
Itih3 T A 14: 30,643,885 (GRCm39) K75* probably null Het
Jag1 A G 2: 136,924,948 (GRCm39) V1218A probably benign Het
Kif28 C T 1: 179,563,695 (GRCm39) D94N probably benign Het
Lama2 G A 10: 27,064,378 (GRCm39) T1201M possibly damaging Het
Lama2 A G 10: 27,492,761 (GRCm39) L11P unknown Het
Lrfn2 T C 17: 49,403,530 (GRCm39) V551A probably damaging Het
Lrrc8d A G 5: 105,960,358 (GRCm39) N256S probably benign Het
Mindy1 C T 3: 95,202,590 (GRCm39) L394F probably benign Het
Mon2 A G 10: 122,868,452 (GRCm39) S534P probably benign Het
Mto1 A G 9: 78,364,840 (GRCm39) M360V probably benign Het
Muc16 T G 9: 18,553,520 (GRCm39) I4258L probably benign Het
Myo10 A G 15: 25,781,520 (GRCm39) D1005G possibly damaging Het
Myo18b T A 5: 112,943,269 (GRCm39) R1645S possibly damaging Het
Naip2 A T 13: 100,298,080 (GRCm39) V652D probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncapd2 A T 6: 125,163,106 (GRCm39) M134K probably benign Het
Nup107 A G 10: 117,586,868 (GRCm39) F893S probably damaging Het
Or10j3 A T 1: 173,031,741 (GRCm39) R273W probably damaging Het
Or11h23 A G 14: 50,947,802 (GRCm39) E5G probably benign Het
Or1e35 A T 11: 73,797,451 (GRCm39) I289N probably damaging Het
Or4f14b A G 2: 111,775,429 (GRCm39) V124A probably benign Het
Or5p64 C T 7: 107,854,799 (GRCm39) C182Y probably damaging Het
Pcgf1 G T 6: 83,056,433 (GRCm39) R124L probably benign Het
Pdcd10 A T 3: 75,448,533 (GRCm39) N10K probably damaging Het
Pdx1 C T 5: 147,207,064 (GRCm39) Q6* probably null Het
Plcl1 T C 1: 55,735,810 (GRCm39) S384P probably damaging Het
Serpina1b T A 12: 103,694,653 (GRCm39) T364S possibly damaging Het
Slc5a11 C T 7: 122,857,775 (GRCm39) T288I probably damaging Het
Slc6a1 A T 6: 114,291,271 (GRCm39) S515C probably damaging Het
Snca A T 6: 60,710,121 (GRCm39) D119E probably benign Het
Sorcs2 T C 5: 36,200,814 (GRCm39) D578G probably damaging Het
Sulf1 T A 1: 12,890,729 (GRCm39) L389Q probably damaging Het
Thoc2l T C 5: 104,667,826 (GRCm39) F783L possibly damaging Het
Tln1 A C 4: 43,532,084 (GRCm39) I2501S possibly damaging Het
Tmem191 A G 16: 17,094,257 (GRCm39) E27G probably damaging Het
Tmem200a G T 10: 25,869,677 (GRCm39) N197K probably benign Het
Tmem207 A T 16: 26,345,434 (GRCm39) S11T probably benign Het
Ttn T C 2: 76,564,953 (GRCm39) T28425A probably damaging Het
Ush2a C T 1: 188,607,147 (GRCm39) T4014M probably benign Het
Vac14 G A 8: 111,439,379 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,477,197 (GRCm39) I398K probably damaging Het
Vmn2r77 A T 7: 86,452,236 (GRCm39) H472L probably benign Het
Vps45 C T 3: 95,940,976 (GRCm39) probably null Het
Wdr26 T C 1: 181,019,423 (GRCm39) H334R probably damaging Het
Zfp268 A T 4: 145,349,613 (GRCm39) Y350F possibly damaging Het
Zmynd10 A G 9: 107,426,249 (GRCm39) D132G possibly damaging Het
Zpbp2 A G 11: 98,444,774 (GRCm39) T123A 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
R0369:Mrps5 UTSW 2 127,433,749 (GRCm39) missense probably benign 0.09
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
Predicted Primers PCR Primer
(F):5'- ATCTTGCTTGGCATTTGGATAC -3'
(R):5'- AAGATGCTCACGCCCTTTC -3'

Sequencing Primer
(F):5'- CTTGGCATTTGGATACTAGAAAAATG -3'
(R):5'- TCACGCCCTTTCCAGGAG -3'
Posted On 2022-04-18