Incidental Mutation 'R9511:Mrpl50'
ID 718155
Institutional Source Beutler Lab
Gene Symbol Mrpl50
Ensembl Gene ENSMUSG00000044018
Gene Name mitochondrial ribosomal protein L50
Synonyms D4Wsu125e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R9511 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 49512597-49521083 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 49514501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 57 (R57*)
Ref Sequence ENSEMBL: ENSMUSP00000062476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057829]
AlphaFold Q8VDT9
Predicted Effect probably null
Transcript: ENSMUST00000057829
AA Change: R57*
SMART Domains Protein: ENSMUSP00000062476
Gene: ENSMUSG00000044018
AA Change: R57*

DomainStartEndE-ValueType
low complexity region 32 55 N/A INTRINSIC
Pfam:Ribosomal_L50 61 156 1.3e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,848 (GRCm39) probably benign Het
Abca13 T A 11: 9,278,130 (GRCm39) S3103R probably benign Het
Alg9 A C 9: 50,717,525 (GRCm39) Y436S probably damaging Het
Ankar G A 1: 72,719,161 (GRCm39) R563C probably benign Het
Ankrd34a C A 3: 96,505,401 (GRCm39) R202S probably benign Het
Art4 T A 6: 136,831,613 (GRCm39) N176I possibly damaging Het
Bivm A G 1: 44,182,250 (GRCm39) E486G possibly damaging Het
Ccdc168 T G 1: 44,098,854 (GRCm39) D748A probably benign Het
Ccdc3 C A 2: 5,143,090 (GRCm39) Q116K probably damaging Het
Cdc42bpb G A 12: 111,261,372 (GRCm39) P1656S probably benign Het
Cdh6 T C 15: 13,034,677 (GRCm39) D661G probably damaging Het
Chek1 T C 9: 36,624,747 (GRCm39) N368S probably benign Het
Dnah11 A T 12: 117,878,352 (GRCm39) F3924L probably damaging Het
Dusp7 T C 9: 106,248,125 (GRCm39) I251T probably damaging Het
Dysf T A 6: 84,090,650 (GRCm39) W988R probably damaging Het
Dzip1l T C 9: 99,519,710 (GRCm39) V79A possibly damaging Het
Ebf1 A G 11: 44,815,393 (GRCm39) I344V probably benign Het
Ern2 T C 7: 121,776,823 (GRCm39) E336G probably benign Het
Fat4 T C 3: 39,034,802 (GRCm39) L2818P probably damaging Het
Gjb3 T C 4: 127,220,131 (GRCm39) S134G probably damaging Het
Gm10647 T C 9: 66,705,756 (GRCm39) F108L unknown Het
Gm19410 A T 8: 36,257,848 (GRCm39) D762V probably damaging Het
Gper1 A G 5: 139,412,138 (GRCm39) K161R probably benign Het
Grin1 A G 2: 25,187,426 (GRCm39) M628T probably damaging Het
Gsdmc A T 15: 63,649,897 (GRCm39) D331E probably benign Het
Haus3 C A 5: 34,325,571 (GRCm39) W29C probably damaging Het
Il10ra T C 9: 45,167,690 (GRCm39) E289G probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnma1 T C 14: 23,361,793 (GRCm39) T1133A possibly damaging Het
Ksr1 G A 11: 78,924,094 (GRCm39) T458M possibly damaging Het
Mc5r T A 18: 68,472,565 (GRCm39) M308K possibly damaging Het
Mis18a T C 16: 90,518,525 (GRCm39) S146G possibly damaging Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Nanos1 T A 19: 60,745,413 (GRCm39) I237N probably damaging Het
Ncor1 TGC TGCGGC 11: 62,324,449 (GRCm39) probably benign Het
Ndst3 T A 3: 123,400,555 (GRCm39) E450D probably damaging Het
Nek10 C A 14: 14,828,511 (GRCm38) T111K probably benign Het
Nipal2 T C 15: 34,584,833 (GRCm39) Y245C probably damaging Het
Npat T A 9: 53,473,406 (GRCm39) D399E probably benign Het
Opa1 A G 16: 29,429,738 (GRCm39) S378G probably damaging Het
Or5b102 T C 19: 13,041,119 (GRCm39) S115P probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pex16 A T 2: 92,209,559 (GRCm39) probably null Het
Plec A T 15: 76,058,897 (GRCm39) I3680N probably damaging Het
Plin3 A T 17: 56,591,225 (GRCm39) V185E probably damaging Het
Prex1 T A 2: 166,413,481 (GRCm39) D1512V probably damaging Het
Ptpn22 T A 3: 103,792,913 (GRCm39) S355T probably benign Het
Ranbp3l A G 15: 9,041,991 (GRCm39) probably benign Het
Scn5a A G 9: 119,351,611 (GRCm39) I790T probably benign Het
Sema6d T C 2: 124,499,943 (GRCm39) F340L probably damaging Het
Slc22a2 A G 17: 12,828,916 (GRCm39) T341A probably damaging Het
Slc6a6 T C 6: 91,721,921 (GRCm39) Y374H probably damaging Het
Slitrk3 T G 3: 72,958,272 (GRCm39) S167R possibly damaging Het
Smchd1 G A 17: 71,750,899 (GRCm39) H340Y possibly damaging Het
Sorcs1 C T 19: 50,666,521 (GRCm39) R129Q probably benign Het
Sox9 A G 11: 112,676,001 (GRCm39) T397A possibly damaging Het
Tnpo1 C A 13: 99,003,621 (GRCm39) R245L possibly damaging Het
Traip T A 9: 107,838,785 (GRCm39) M183K probably damaging Het
Trpc6 A T 9: 8,680,419 (GRCm39) E882D probably benign Het
Uba6 C A 5: 86,288,219 (GRCm39) G491V probably damaging Het
Uqcrfs1 A T 13: 30,729,037 (GRCm39) V65E probably benign Het
Urgcp T C 11: 5,668,128 (GRCm39) D113G probably damaging Het
Wdr76 C T 2: 121,372,976 (GRCm39) T503M probably damaging Het
Zfp27 T C 7: 29,593,641 (GRCm39) T775A possibly damaging Het
Zfp518b A T 5: 38,829,395 (GRCm39) V870E possibly damaging Het
Zfp932 T A 5: 110,155,177 (GRCm39) H63Q possibly damaging Het
Zkscan6 C A 11: 65,712,817 (GRCm39) T250N probably damaging Het
Zmat2 A T 18: 36,930,958 (GRCm39) K161N possibly damaging Het
Zyg11a A G 4: 108,062,420 (GRCm39) L127P probably damaging Het
Other mutations in Mrpl50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Mrpl50 APN 4 49,521,014 (GRCm39) missense probably benign 0.26
R0348:Mrpl50 UTSW 4 49,514,515 (GRCm39) missense probably damaging 0.97
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
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'- TCTGACCCTGCACATTTGG -3'
(R):5'- TCTCCACTGCGCTCAGAAAG -3'

Sequencing Primer
(F):5'- ACATTTGGTGAAGCCTGGAG -3'
(R):5'- GCTCAGAAAGCCCTAAGTGTGC -3'
Posted On 2022-07-18