Incidental Mutation 'R8219:Mrpl3'
ID 636560
Institutional Source Beutler Lab
Gene Symbol Mrpl3
Ensembl Gene ENSMUSG00000032563
Gene Name mitochondrial ribosomal protein L3
Synonyms dcr, 5930422H18Rik, 2010320L16Rik
MMRRC Submission 067659-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8219 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 104930394-104954665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104934271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 139 (N139K)
Ref Sequence ENSEMBL: ENSMUSP00000035177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035177] [ENSMUST00000131655] [ENSMUST00000142424] [ENSMUST00000149243] [ENSMUST00000190492]
AlphaFold Q99N95
Predicted Effect possibly damaging
Transcript: ENSMUST00000035177
AA Change: N139K

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: N139K

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 119 1.1e-13 PFAM
Pfam:Ribosomal_L3 112 340 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131655
AA Change: N131K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563
AA Change: N131K

DomainStartEndE-ValueType
PDB:4CE4|E 1 148 1e-82 PDB
SCOP:d1jj2b_ 90 148 5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142424
Predicted Effect probably benign
Transcript: ENSMUST00000149243
AA Change: N139K

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: N139K

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 103 300 1.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190492
SMART Domains Protein: ENSMUSP00000140346
Gene: ENSMUSG00000032563

DomainStartEndE-ValueType
PDB:4CE4|E 1 37 2e-7 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 100% (62/62)
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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,833,363 (GRCm39) S80T unknown Het
Acnat1 T A 4: 49,447,748 (GRCm39) I278F probably benign Het
Adgrf5 A T 17: 43,760,750 (GRCm39) Q815L probably benign Het
Aff1 T A 5: 103,994,199 (GRCm39) Y1022N probably damaging Het
Ahi1 A G 10: 20,950,335 (GRCm39) K1034E probably benign Het
Ano8 A T 8: 71,933,357 (GRCm39) L645Q unknown Het
Atg9b A G 5: 24,591,330 (GRCm39) L756P probably damaging Het
Atp2b2 A T 6: 113,770,811 (GRCm39) I411N probably damaging Het
Bmp6 T A 13: 38,529,963 (GRCm39) C19S unknown Het
Borcs5 A G 6: 134,621,313 (GRCm39) H27R probably benign Het
Cachd1 C A 4: 100,848,159 (GRCm39) D1091E probably benign Het
Ccdc186 T A 19: 56,781,777 (GRCm39) M801L probably benign Het
Clcn3 A T 8: 61,376,000 (GRCm39) M658K probably damaging Het
Col1a1 C T 11: 94,834,184 (GRCm39) R500C probably damaging Het
Cul4a T A 8: 13,196,540 (GRCm39) D731E possibly damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
E2f7 T A 10: 110,595,704 (GRCm39) V133E probably damaging Het
Fam161b T C 12: 84,393,648 (GRCm39) E575G probably benign Het
Fubp1 T A 3: 151,926,103 (GRCm39) V275D probably damaging Het
Gabrg1 T A 5: 70,931,643 (GRCm39) R367* probably null Het
Gm6902 G A 7: 22,973,143 (GRCm39) A128V probably benign Het
Gnptab A G 10: 88,269,654 (GRCm39) T786A probably benign Het
Golga2 A G 2: 32,196,492 (GRCm39) N981D probably damaging Het
Gsap A T 5: 21,456,113 (GRCm39) I437L probably benign Het
Gulp1 A G 1: 44,793,501 (GRCm39) probably null Het
Kcnn1 T C 8: 71,305,499 (GRCm39) Y237C probably damaging Het
Klhl28 A T 12: 64,998,431 (GRCm39) N354K probably benign Het
Lama3 T C 18: 12,572,417 (GRCm39) Y541H probably benign Het
Lamc1 A G 1: 153,123,073 (GRCm39) Y706H probably damaging Het
Lima1 G T 15: 99,678,671 (GRCm39) T590K probably damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mrgprb8 G A 7: 48,038,649 (GRCm39) V107M possibly damaging Het
Nhsl3 T A 4: 129,141,946 (GRCm39) D65V possibly damaging Het
Nudt16 T A 9: 105,007,636 (GRCm39) N161I probably damaging Het
Obscn G A 11: 59,013,574 (GRCm39) S1091L probably benign Het
Oog4 T C 4: 143,166,508 (GRCm39) M99V probably benign Het
Or5b105 A C 19: 13,080,284 (GRCm39) L122R probably damaging Het
Or8c16 A C 9: 38,130,668 (GRCm39) D183A probably damaging Het
Osbpl6 A T 2: 76,386,247 (GRCm39) D303V probably damaging Het
Pcdhb21 T C 18: 37,647,708 (GRCm39) F279S probably damaging Het
Peg3 G A 7: 6,711,364 (GRCm39) T1286I probably benign Het
Phax A G 18: 56,708,754 (GRCm39) N106S probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptprn2 C A 12: 117,148,357 (GRCm39) Q706K probably benign Het
Rdh11 T G 12: 79,235,880 (GRCm39) K23Q probably benign Het
Rit2 T A 18: 31,108,547 (GRCm39) E146V probably damaging Het
Rnf141 T C 7: 110,436,472 (GRCm39) probably benign Het
Sars1 T A 3: 108,352,378 (GRCm39) E24V probably benign Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Slc10a5 G T 3: 10,400,384 (GRCm39) P92Q probably benign Het
Slc24a5 A T 2: 124,927,575 (GRCm39) probably null Het
Slc5a8 A G 10: 88,757,561 (GRCm39) Y517C probably damaging Het
Slc6a5 A G 7: 49,561,911 (GRCm39) M148V probably benign Het
Sorl1 T C 9: 41,952,857 (GRCm39) probably null Het
Tgm4 A T 9: 122,874,117 (GRCm39) Y119F probably benign Het
Tgm6 A G 2: 129,993,200 (GRCm39) K562R probably benign Het
Tlr3 T C 8: 45,851,016 (GRCm39) E627G possibly damaging Het
Tmprss11f A G 5: 86,677,878 (GRCm39) L297P probably damaging Het
Tpbgl T C 7: 99,274,978 (GRCm39) H293R probably benign Het
Trank1 A C 9: 111,193,977 (GRCm39) K667T probably damaging Het
Trpm1 A T 7: 63,851,699 (GRCm39) Q139L probably benign Het
Ttf2 T G 3: 100,869,879 (GRCm39) K398T possibly damaging Het
Xpa A T 4: 46,183,150 (GRCm39) M213K probably benign Het
Zmym2 T A 14: 57,163,316 (GRCm39) S623T probably benign Het
Other mutations in Mrpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Mrpl3 APN 9 104,941,305 (GRCm39) missense probably damaging 1.00
IGL00917:Mrpl3 APN 9 104,934,240 (GRCm39) missense probably damaging 1.00
IGL01989:Mrpl3 APN 9 104,948,678 (GRCm39) missense probably benign 0.39
IGL02727:Mrpl3 APN 9 104,931,726 (GRCm39) missense probably damaging 0.99
IGL03188:Mrpl3 APN 9 104,934,264 (GRCm39) missense probably benign 0.00
R0049:Mrpl3 UTSW 9 104,932,872 (GRCm39) missense probably benign 0.06
R0049:Mrpl3 UTSW 9 104,932,872 (GRCm39) missense probably benign 0.06
R0398:Mrpl3 UTSW 9 104,941,302 (GRCm39) missense probably damaging 1.00
R1469:Mrpl3 UTSW 9 104,954,201 (GRCm39) missense probably damaging 0.99
R1469:Mrpl3 UTSW 9 104,954,201 (GRCm39) missense probably damaging 0.99
R1784:Mrpl3 UTSW 9 104,934,266 (GRCm39) missense probably benign 0.00
R4026:Mrpl3 UTSW 9 104,948,685 (GRCm39) critical splice donor site probably null
R4812:Mrpl3 UTSW 9 104,951,023 (GRCm39) missense probably damaging 1.00
R4838:Mrpl3 UTSW 9 104,934,231 (GRCm39) missense probably damaging 1.00
R5407:Mrpl3 UTSW 9 104,954,294 (GRCm39) missense probably benign 0.03
RF016:Mrpl3 UTSW 9 104,952,452 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- AGGCACAGTCATGGGATTATAAC -3'
(R):5'- ACCGATGTACAAACACTGTGG -3'

Sequencing Primer
(F):5'- GGTGGATCACGTTACAAG -3'
(R):5'- ACAAACACTGTGGCTCTGTG -3'
Posted On 2020-07-13