Incidental Mutation 'R0066:Mrps21'
ID 41047
Institutional Source Beutler Lab
Gene Symbol Mrps21
Ensembl Gene ENSMUSG00000054312
Gene Name mitochondrial ribosomal protein S21
Synonyms 1810031B19Rik
MMRRC Submission 038357-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0066 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95769946-95778826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95770197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 44 (Y44C)
Ref Sequence ENSEMBL: ENSMUSP00000117821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067298] [ENSMUST00000072587] [ENSMUST00000142437]
AlphaFold P58059
Predicted Effect probably damaging
Transcript: ENSMUST00000067298
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066990
Gene: ENSMUSG00000054312
AA Change: Y44C

DomainStartEndE-ValueType
Pfam:Ribosomal_S21 11 64 4.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072587
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130403
Gene: ENSMUSG00000054312
AA Change: Y44C

DomainStartEndE-ValueType
Pfam:Ribosomal_S21 10 65 3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132515
Predicted Effect probably null
Transcript: ENSMUST00000142437
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180383
Meta Mutation Damage Score 0.9075 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.0%
Validation Efficiency 100% (107/107)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
5530400C23Rik A T 6: 133,269,287 (GRCm39) probably benign Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arap3 A T 18: 38,129,760 (GRCm39) S134T probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bpifb9a A T 2: 154,108,761 (GRCm39) N421Y possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col24a1 G A 3: 145,250,899 (GRCm39) A1633T probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnah10 A T 5: 124,840,140 (GRCm39) D1315V probably benign Het
Dnah11 A G 12: 118,090,621 (GRCm39) F1080S probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l1 A C 9: 24,325,705 (GRCm39) M700R possibly damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fchsd2 A G 7: 100,927,631 (GRCm39) Y691C possibly damaging Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm43302 T A 5: 105,438,766 (GRCm39) I41F probably damaging Het
Gm5698 C T 1: 31,016,614 (GRCm39) V146I probably benign Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Il4ra C T 7: 125,175,403 (GRCm39) P537L possibly damaging Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Khdrbs3 T A 15: 68,866,886 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Neb T A 2: 52,196,542 (GRCm39) D553V probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Npr2 G T 4: 43,632,329 (GRCm39) V49L probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Oas3 T A 5: 120,896,940 (GRCm39) I894F probably damaging Het
Oprd1 A G 4: 131,841,299 (GRCm39) F220L probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Or2aj4 T A 16: 19,384,799 (GRCm39) Y278F probably damaging Het
Or2r2 A T 6: 42,463,869 (GRCm39) M86K probably benign Het
Or8b57 T C 9: 40,003,983 (GRCm39) N93S possibly damaging Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plcxd1 T A 5: 110,249,368 (GRCm39) V65E probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Rabepk T C 2: 34,685,318 (GRCm39) D26G possibly damaging Het
Reck A G 4: 43,930,936 (GRCm39) N646D probably damaging Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spink14 T C 18: 44,161,830 (GRCm39) V2A probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tmco6 A G 18: 36,875,160 (GRCm39) T477A probably benign Het
Tmem208 C T 8: 106,054,857 (GRCm39) A53V probably benign Het
Tpp2 A G 1: 44,020,908 (GRCm39) T837A possibly damaging Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Ubqlnl A T 7: 103,798,145 (GRCm39) W451R probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Usp7 A T 16: 8,509,282 (GRCm39) H1017Q probably benign Het
Utp4 A G 8: 107,649,530 (GRCm39) T660A possibly damaging Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r63 T C 7: 42,576,514 (GRCm39) probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vmn2r85 T C 10: 130,261,770 (GRCm39) D189G probably damaging Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Wnk4 A T 11: 101,156,261 (GRCm39) D43V probably damaging Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Xirp2 T C 2: 67,342,484 (GRCm39) V1575A possibly damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign Het
Zfp458 G A 13: 67,407,673 (GRCm39) Q58* probably null Het
Zfp747 A T 7: 126,973,772 (GRCm39) S133T probably benign 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
R6050:Mrps21 UTSW 3 95,770,200 (GRCm39) missense probably benign 0.22
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'- ACAGCTTCTGTATGTCCAAGCCTTC -3'
(R):5'- GCAGCCTCTAGAAAGCAGTCAGTG -3'

Sequencing Primer
(F):5'- TCTTGTTCACCTGTGATGGAG -3'
(R):5'- CCTCTAGAAAGCAGTCAGTGTTATG -3'
Posted On 2013-05-23