Incidental Mutation 'R0791:Mrps24'
ID 82408
Institutional Source Beutler Lab
Gene Symbol Mrps24
Ensembl Gene ENSMUSG00000020477
Gene Name mitochondrial ribosomal protein S24
Synonyms 3110030K20Rik, Rpms24
MMRRC Submission 038971-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R0791 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 5653982-5657701 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5654684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 90 (V90A)
Ref Sequence ENSEMBL: ENSMUSP00000119535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000154330]
AlphaFold Q9CQV5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149980
Predicted Effect possibly damaging
Transcript: ENSMUST00000154330
AA Change: V90A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119535
Gene: ENSMUSG00000020477
AA Change: V90A

DomainStartEndE-ValueType
Pfam:MRP-S24 36 167 1.1e-61 PFAM
Meta Mutation Damage Score 0.1481 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (59/60)
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. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,994,098 (GRCm39) M5127I probably benign Het
Akr1c13 T C 13: 4,244,111 (GRCm39) Y55H probably damaging Het
Armh3 A T 19: 45,922,307 (GRCm39) probably null Het
Atp2b2 C T 6: 113,750,349 (GRCm39) R625H probably damaging Het
Bpifb2 T C 2: 153,720,439 (GRCm39) V66A probably benign Het
Ccdc33 T C 9: 57,936,046 (GRCm39) T950A possibly damaging Het
Ceacam19 A T 7: 19,616,557 (GRCm39) probably null Het
Cenpn T A 8: 117,667,559 (GRCm39) probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Clca3a1 A C 3: 144,710,615 (GRCm39) S863A probably benign Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Dock4 C T 12: 40,754,480 (GRCm39) R490W probably damaging Het
Evpl T A 11: 116,118,549 (GRCm39) Q686L probably damaging Het
Fbxw10 A G 11: 62,738,282 (GRCm39) S59G probably benign Het
Glb1l2 A G 9: 26,681,047 (GRCm39) V218A possibly damaging Het
Gpatch1 A T 7: 34,980,801 (GRCm39) probably benign Het
Grin2c G A 11: 115,141,472 (GRCm39) P882L probably damaging Het
H2-Ob C A 17: 34,461,588 (GRCm39) T109N probably damaging Het
Ipo8 A G 6: 148,723,225 (GRCm39) V64A possibly damaging Het
Jpt2 C A 17: 25,167,647 (GRCm39) A101S probably benign Het
Lamc1 C A 1: 153,110,326 (GRCm39) Q1116H possibly damaging Het
Lamc1 T C 1: 153,110,358 (GRCm39) S1106G probably benign Het
Lamc1 T G 1: 153,110,341 (GRCm39) Q1111H probably damaging Het
Large1 A G 8: 73,775,107 (GRCm39) probably benign Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Mpz C A 1: 170,986,343 (GRCm39) Q86K possibly damaging Het
Mtdh A G 15: 34,116,528 (GRCm39) probably benign Het
Mtor T C 4: 148,547,367 (GRCm39) V450A probably benign Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Myo6 T A 9: 80,169,656 (GRCm39) probably benign Het
Myom1 A T 17: 71,428,131 (GRCm39) I1450F probably damaging Het
Nbas T A 12: 13,532,634 (GRCm39) S1781T probably benign Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nt5c3 T C 6: 56,863,734 (GRCm39) T149A probably benign Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Osbp2 G A 11: 3,661,882 (GRCm39) probably benign Het
Paip1 T C 13: 119,566,854 (GRCm39) S54P possibly damaging Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Prdm14 G T 1: 13,195,968 (GRCm39) A31E probably benign Het
Ptpn14 C T 1: 189,568,637 (GRCm39) probably benign Het
Rims2 A G 15: 39,543,021 (GRCm39) probably benign Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sema3g T A 14: 30,942,861 (GRCm39) probably benign Het
Slc30a6 T C 17: 74,722,640 (GRCm39) S236P possibly damaging Het
Slc5a1 T C 5: 33,315,421 (GRCm39) probably benign Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Synpo2 A G 3: 122,906,835 (GRCm39) V827A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trak2 A T 1: 58,942,820 (GRCm39) M862K probably benign Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Twnk T C 19: 44,998,693 (GRCm39) probably benign Het
Tymp T C 15: 89,259,021 (GRCm39) K221R probably damaging Het
Uaca C A 9: 60,779,341 (GRCm39) Q1243K possibly damaging Het
Vwa8 T C 14: 79,232,016 (GRCm39) probably benign Het
Wnt4 C T 4: 137,016,594 (GRCm39) R83W probably damaging Het
Zfp820 T C 17: 22,038,509 (GRCm39) D273G probably benign Het
Zfp974 A T 7: 27,609,510 (GRCm39) Y738* probably null Het
Zkscan4 A C 13: 21,668,081 (GRCm39) E177D probably benign Het
Other mutations in Mrps24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4060:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
R4062:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
R4064:Mrps24 UTSW 11 5,654,676 (GRCm39) nonsense probably null
R5963:Mrps24 UTSW 11 5,657,481 (GRCm39) splice site probably benign
R6598:Mrps24 UTSW 11 5,654,713 (GRCm39) missense probably benign 0.00
R6974:Mrps24 UTSW 11 5,654,663 (GRCm39) missense probably benign 0.00
R7984:Mrps24 UTSW 11 5,657,495 (GRCm39) missense possibly damaging 0.63
R8855:Mrps24 UTSW 11 5,654,642 (GRCm39) missense probably damaging 1.00
Z1176:Mrps24 UTSW 11 5,654,538 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACAGGCATTTGGTCTCCTGCAC -3'
(R):5'- GCCATCCCTGCGCTTTGGATTTTAG -3'

Sequencing Primer
(F):5'- ACTTGTACACGACCTTGGAG -3'
(R):5'- TATTCCGTTAGCGTGCCCA -3'
Posted On 2013-11-08