Incidental Mutation 'R2926:Mrps33'
ID 255756
Institutional Source Beutler Lab
Gene Symbol Mrps33
Ensembl Gene ENSMUSG00000029918
Gene Name mitochondrial ribosomal protein S33
Synonyms MRP-S33, PTD003, Gdap3, CGI-139
MMRRC Submission 040511-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R2926 (G1)
Quality Score 222
Status Validated
Chromosome 6
Chromosomal Location 39778738-39787870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39782438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 28 (S28P)
Ref Sequence ENSEMBL: ENSMUSP00000144539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031978] [ENSMUST00000114797] [ENSMUST00000201461]
AlphaFold Q9D2R8
Predicted Effect probably benign
Transcript: ENSMUST00000031978
AA Change: S28P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031978
Gene: ENSMUSG00000029918
AA Change: S28P

DomainStartEndE-ValueType
Pfam:MRP-S33 7 96 2.5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114797
AA Change: S28P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139992
Predicted Effect probably damaging
Transcript: ENSMUST00000201461
AA Change: S28P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.1484 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Calb1 T G 4: 15,904,302 (GRCm39) L218R probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Cd300a A G 11: 114,784,139 (GRCm39) E49G possibly damaging Het
Colec11 T A 12: 28,667,428 (GRCm39) Q37L probably damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Ntrk2 C A 13: 59,208,098 (GRCm39) T648K probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,114,789 (GRCm39) M104L probably damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Usp11 G T X: 20,584,031 (GRCm39) G601W probably damaging Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T possibly damaging Het
Other mutations in Mrps33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Mrps33 APN 6 39,779,447 (GRCm39) nonsense probably null
R0544:Mrps33 UTSW 6 39,782,488 (GRCm39) missense possibly damaging 0.94
R1800:Mrps33 UTSW 6 39,779,429 (GRCm39) missense probably damaging 1.00
R6481:Mrps33 UTSW 6 39,782,304 (GRCm39) critical splice donor site probably null
R6722:Mrps33 UTSW 6 39,782,599 (GRCm39) start gained probably benign
R6781:Mrps33 UTSW 6 39,782,757 (GRCm39) start gained probably benign
R7440:Mrps33 UTSW 6 39,779,413 (GRCm39) missense probably damaging 1.00
R9233:Mrps33 UTSW 6 39,782,447 (GRCm39) missense probably benign
R9440:Mrps33 UTSW 6 39,782,364 (GRCm39) nonsense probably null
R9610:Mrps33 UTSW 6 39,779,422 (GRCm39) missense probably damaging 1.00
R9611:Mrps33 UTSW 6 39,779,422 (GRCm39) missense probably damaging 1.00
Z1186:Mrps33 UTSW 6 39,779,449 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AACTGTAGTGAGTCCCAAGC -3'
(R):5'- TGTCAAGTGGGCATGTCTCC -3'

Sequencing Primer
(F):5'- CTGTAGTGAGTCCCAAGCTAATTG -3'
(R):5'- GCCATAATAATTCATGGGTGGC -3'
Posted On 2014-12-29