Incidental Mutation 'R0348:Mrpl50'
ID 35979
Institutional Source Beutler Lab
Gene Symbol Mrpl50
Ensembl Gene ENSMUSG00000044018
Gene Name mitochondrial ribosomal protein L50
Synonyms D4Wsu125e
MMRRC Submission 038555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0348 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 49512597-49521083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49514515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 52 (V52E)
Ref Sequence ENSEMBL: ENSMUSP00000062476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057829]
AlphaFold Q8VDT9
Predicted Effect probably damaging
Transcript: ENSMUST00000057829
AA Change: V52E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062476
Gene: ENSMUSG00000044018
AA Change: V52E

DomainStartEndE-ValueType
low complexity region 32 55 N/A INTRINSIC
Pfam:Ribosomal_L50 61 156 1.3e-15 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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 putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T C 11: 3,844,987 (GRCm39) D34G probably benign Het
Adam6a T C 12: 113,508,337 (GRCm39) S237P probably damaging Het
Adamts13 A C 2: 26,871,092 (GRCm39) D235A probably benign Het
Adgb T A 10: 10,233,623 (GRCm39) M1259L probably benign Het
Apbb1 T C 7: 105,214,510 (GRCm39) Q529R probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Camta1 T C 4: 151,670,888 (GRCm39) T96A possibly damaging Het
Ccdc148 A T 2: 58,894,084 (GRCm39) probably null Het
Cep170b T C 12: 112,703,240 (GRCm39) Y568H probably damaging Het
Clca4b A T 3: 144,627,741 (GRCm39) I410N probably damaging Het
Cnot10 G A 9: 114,427,838 (GRCm39) T592I probably benign Het
Col6a3 C T 1: 90,755,771 (GRCm39) A173T probably damaging Het
Ctcf T A 8: 106,402,789 (GRCm39) C560* probably null Het
Daglb G A 5: 143,472,951 (GRCm39) V369I probably benign Het
Defb19 G A 2: 152,422,146 (GRCm39) L8F unknown Het
Emcn G T 3: 137,078,608 (GRCm39) E65* probably null Het
Etl4 G T 2: 20,782,940 (GRCm39) R753L probably damaging Het
Fam151b T C 13: 92,586,689 (GRCm39) Y248C probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gjd4 A G 18: 9,280,964 (GRCm39) V38A possibly damaging Het
Hivep1 T C 13: 42,311,855 (GRCm39) V1365A possibly damaging Het
Hivep2 T C 10: 14,005,702 (GRCm39) S767P possibly damaging Het
Hoxa6 T C 6: 52,183,548 (GRCm39) T166A possibly damaging Het
Ift80 G T 3: 68,843,232 (GRCm39) L367I probably benign Het
Igf2bp1 T C 11: 95,859,719 (GRCm39) N369S possibly damaging Het
Igsf11 C A 16: 38,829,179 (GRCm39) D24E probably benign Het
Ints5 C T 19: 8,873,114 (GRCm39) L358F probably damaging Het
Kbtbd3 A G 9: 4,330,519 (GRCm39) T298A possibly damaging Het
Kif28 C A 1: 179,558,818 (GRCm39) V297F probably damaging Het
Krt12 T C 11: 99,308,771 (GRCm39) Y422C probably damaging Het
Lig1 T A 7: 13,043,122 (GRCm39) W856R probably damaging Het
Liph C T 16: 21,786,730 (GRCm39) probably null Het
Lrig3 T A 10: 125,849,317 (GRCm39) C1012* probably null Het
Lrit1 A G 14: 36,782,182 (GRCm39) E285G probably damaging Het
Lrrc31 A G 3: 30,743,377 (GRCm39) V196A probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Mllt10 T C 2: 18,167,424 (GRCm39) Y372H probably damaging Het
Mthfd1l T C 10: 4,006,766 (GRCm39) V676A probably damaging Het
Ncl C T 1: 86,284,362 (GRCm39) D245N possibly damaging Het
Neil1 A T 9: 57,054,065 (GRCm39) probably null Het
Nfatc3 A G 8: 106,818,827 (GRCm39) E515G probably damaging Het
Nlrp4b A G 7: 10,449,108 (GRCm39) E70G possibly damaging Het
Nme3 A T 17: 25,115,491 (GRCm39) I2F possibly damaging Het
Nup210 G A 6: 91,051,292 (GRCm39) H364Y probably benign Het
Nxpe3 T A 16: 55,686,898 (GRCm39) T37S probably benign Het
Olfm1 T A 2: 28,102,554 (GRCm39) M76K probably benign Het
Pgbd5 A T 8: 125,160,771 (GRCm39) V32E probably damaging Het
Plcb4 T C 2: 135,810,339 (GRCm39) M646T probably damaging Het
Plekha7 G A 7: 115,757,255 (GRCm39) P565L probably damaging Het
Poc5 A G 13: 96,535,374 (GRCm39) D213G probably null Het
Poli A G 18: 70,656,452 (GRCm39) I125T probably benign Het
Ppm1f T C 16: 16,721,254 (GRCm39) M1T probably null Het
Psmd7 T C 8: 108,307,523 (GRCm39) K320R unknown Het
Rabggtb A G 3: 153,615,954 (GRCm39) V128A probably damaging Het
Rasa2 A T 9: 96,454,012 (GRCm39) L308H probably damaging Het
Serpina1d C T 12: 103,730,034 (GRCm39) V383M probably benign Het
Sipa1l1 T C 12: 82,431,530 (GRCm39) probably null Het
Sos1 T C 17: 80,715,740 (GRCm39) T1006A probably benign Het
Sugp1 T A 8: 70,522,658 (GRCm39) Y453N probably damaging Het
Taf3 A T 2: 10,047,455 (GRCm39) D64E probably benign Het
Tcf19 A T 17: 35,826,801 (GRCm39) probably null Het
Trim60 T A 8: 65,453,868 (GRCm39) H127L probably damaging Het
Tubb4a C T 17: 57,387,770 (GRCm39) V419M probably damaging Het
Vmn2r22 G T 6: 123,614,684 (GRCm39) T302K probably damaging Het
Vmn2r68 T G 7: 84,870,884 (GRCm39) T800P possibly damaging Het
Zfhx2 A C 14: 55,300,965 (GRCm39) V2262G probably damaging Het
Other mutations in Mrpl50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Mrpl50 APN 4 49,521,014 (GRCm39) missense probably benign 0.26
R0478:Mrpl50 UTSW 4 49,514,513 (GRCm39) missense probably damaging 1.00
R0706:Mrpl50 UTSW 4 49,514,198 (GRCm39) missense probably benign
R3829:Mrpl50 UTSW 4 49,514,539 (GRCm39) missense probably damaging 1.00
R4572:Mrpl50 UTSW 4 49,514,399 (GRCm39) missense possibly damaging 0.74
R4903:Mrpl50 UTSW 4 49,514,488 (GRCm39) missense probably damaging 1.00
R9511:Mrpl50 UTSW 4 49,514,501 (GRCm39) nonsense probably null
R9546:Mrpl50 UTSW 4 49,514,338 (GRCm39) missense probably damaging 1.00
R9547:Mrpl50 UTSW 4 49,514,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATGGCCTAAGCCATCAGCTAAG -3'
(R):5'- CGCATGTCTGAGGAGTTGTTTTCCATC -3'

Sequencing Primer
(F):5'- AGCCTGCTAAGAGTCTGAACTTC -3'
(R):5'- CCTCTCCACTGCGCTCAG -3'
Posted On 2013-05-09