Incidental Mutation 'R6050:Mrps21'
ID 483493
Institutional Source Beutler Lab
Gene Symbol Mrps21
Ensembl Gene ENSMUSG00000054312
Gene Name mitochondrial ribosomal protein S21
Synonyms 1810031B19Rik
MMRRC Submission 044218-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 95769946-95778826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95770200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 43 (R43H)
Ref Sequence ENSEMBL: ENSMUSP00000117821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067298] [ENSMUST00000072587] [ENSMUST00000142437]
AlphaFold P58059
Predicted Effect probably benign
Transcript: ENSMUST00000067298
AA Change: R43H

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066990
Gene: ENSMUSG00000054312
AA Change: R43H

DomainStartEndE-ValueType
Pfam:Ribosomal_S21 11 64 4.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072587
AA Change: R43H

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130403
Gene: ENSMUSG00000054312
AA Change: R43H

DomainStartEndE-ValueType
Pfam:Ribosomal_S21 10 65 3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132515
Predicted Effect probably benign
Transcript: ENSMUST00000142437
AA Change: R43H

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180383
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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 S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ahdc1 A G 4: 132,793,202 (GRCm39) D1481G possibly damaging Het
Ak9 A G 10: 41,265,108 (GRCm39) E955G possibly damaging Het
Aox3 T C 1: 58,219,814 (GRCm39) F1138S possibly damaging Het
Bbs2 T A 8: 94,819,160 (GRCm39) N70Y probably damaging Het
BC048679 T C 7: 81,145,339 (GRCm39) I70V possibly damaging Het
Catspere2 G A 1: 177,931,490 (GRCm39) A470T unknown Het
Ccdc141 G T 2: 76,842,075 (GRCm39) A1452E probably benign Het
Celsr1 T C 15: 85,814,812 (GRCm39) D1883G probably benign Het
Clhc1 A G 11: 29,511,397 (GRCm39) I280M possibly damaging Het
Cmtr1 G T 17: 29,901,108 (GRCm39) K678N probably damaging Het
Daam2 T C 17: 49,793,530 (GRCm39) D329G possibly damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Fcf1 G A 12: 85,029,017 (GRCm39) C154Y probably damaging Het
Frem2 T C 3: 53,560,433 (GRCm39) N1358S probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtf3c3 T C 1: 54,445,229 (GRCm39) I608M probably benign Het
Gzf1 G A 2: 148,526,158 (GRCm39) D210N possibly damaging Het
Ift140 C T 17: 25,309,979 (GRCm39) R1129C probably damaging Het
Lias A G 5: 65,551,315 (GRCm39) I83V possibly damaging Het
Mlh3 T C 12: 85,287,620 (GRCm39) T1342A possibly damaging Het
Mn1 A G 5: 111,567,263 (GRCm39) Y411C probably damaging Het
Ncam2 C T 16: 81,240,054 (GRCm39) Q172* probably null Het
Notch3 T C 17: 32,362,501 (GRCm39) T1375A probably benign Het
Oga A C 19: 45,753,919 (GRCm39) S652A possibly damaging Het
Ovol3 T A 7: 29,933,819 (GRCm39) Y101F probably benign Het
Pcbp4 T C 9: 106,339,422 (GRCm39) V45A probably benign Het
Plec T C 15: 76,072,458 (GRCm39) E709G probably damaging Het
Prcc G A 3: 87,777,191 (GRCm39) T261I probably damaging Het
Psg25 A G 7: 18,260,403 (GRCm39) V165A probably benign Het
Rfk C T 19: 17,376,896 (GRCm39) P133S probably benign Het
Scaf8 C T 17: 3,218,383 (GRCm39) T251M unknown Het
Sec14l2 T C 11: 4,061,477 (GRCm39) D67G probably benign Het
Smtnl1 A G 2: 84,641,797 (GRCm39) I441T probably damaging Het
Tbce C T 13: 14,173,019 (GRCm39) V471I possibly damaging Het
Tnip1 G A 11: 54,808,703 (GRCm39) R495C probably damaging Het
Trbv19 A G 6: 41,155,944 (GRCm39) K105R probably benign Het
Ttc5 T A 14: 51,010,744 (GRCm39) N229I probably damaging Het
Ush2a T C 1: 188,689,521 (GRCm39) F5028L probably benign Het
Vmn2r24 T C 6: 123,792,691 (GRCm39) S673P probably damaging Het
Zfp780b A T 7: 27,663,727 (GRCm39) I276N probably damaging Het
Other mutations in Mrps21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03070:Mrps21 APN 3 95,777,897 (GRCm39) utr 5 prime probably benign
R0066:Mrps21 UTSW 3 95,770,197 (GRCm39) missense probably null 1.00
R0066:Mrps21 UTSW 3 95,770,197 (GRCm39) missense probably null 1.00
R6711:Mrps21 UTSW 3 95,777,895 (GRCm39) start gained probably benign
R7442:Mrps21 UTSW 3 95,770,128 (GRCm39) missense probably damaging 1.00
R7472:Mrps21 UTSW 3 95,770,110 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCTTCTGTATGTCCAAGCC -3'
(R):5'- CTGCAGCCTCTAGAAAGCAG -3'

Sequencing Primer
(F):5'- CCTTCTTGTTCACCTGTGATGGAG -3'
(R):5'- GCCTCTAGAAAGCAGTCAGTGTTATG -3'
Posted On 2017-07-14