Incidental Mutation 'R8337:Mrps25'
ID 644667
Institutional Source Beutler Lab
Gene Symbol Mrps25
Ensembl Gene ENSMUSG00000014551
Gene Name mitochondrial ribosomal protein S25
Synonyms 2810429N01Rik, Rpms25
MMRRC Submission 067800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8337 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 92146506-92161014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92152745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 92 (T92A)
Ref Sequence ENSEMBL: ENSMUSP00000114402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000140438]
AlphaFold Q9D125
Predicted Effect probably benign
Transcript: ENSMUST00000113460
SMART Domains Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893

DomainStartEndE-ValueType
ZnF_C4 114 185 4.33e-40 SMART
Blast:HOLI 238 324 4e-46 BLAST
HOLI 388 554 1.9e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140438
AA Change: T92A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114402
Gene: ENSMUSG00000014551
AA Change: T92A

DomainStartEndE-ValueType
L51_S25_CI-B8 36 109 8.78e-16 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (55/55)
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 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T C 16: 88,556,151 (GRCm39) Y122H probably damaging Het
Abhd14b T A 9: 106,327,240 (GRCm39) H7Q probably benign Het
Acod1 C T 14: 103,286,780 (GRCm39) R28W possibly damaging Het
Agap2 A G 10: 126,924,194 (GRCm39) T803A unknown Het
Angptl7 T C 4: 148,581,741 (GRCm39) E215G probably damaging Het
Ankrd34c T A 9: 89,611,951 (GRCm39) D130V probably damaging Het
BC028528 A G 3: 95,792,298 (GRCm39) V144A probably benign Het
Cab39l T C 14: 59,776,640 (GRCm39) F274L probably damaging Het
Cdsn T C 17: 35,866,415 (GRCm39) S315P possibly damaging Het
Celsr3 CGGGG CGGGGG 9: 108,718,471 (GRCm39) probably null Het
Cep97 A T 16: 55,735,394 (GRCm39) L540* probably null Het
Chrna2 G T 14: 66,387,017 (GRCm39) E388* probably null Het
Ckap4 A G 10: 84,364,460 (GRCm39) V201A probably damaging Het
Clec4b1 A G 6: 123,042,922 (GRCm39) K47R probably benign Het
Clvs2 A T 10: 33,404,484 (GRCm39) I244N possibly damaging Het
Cmtr1 G A 17: 29,893,151 (GRCm39) E57K probably benign Het
Cxxc1 T A 18: 74,353,910 (GRCm39) D565E possibly damaging Het
Dtx3l T A 16: 35,754,073 (GRCm39) M178L probably benign Het
Eml2 A G 7: 18,930,161 (GRCm39) D294G possibly damaging Het
Flt3 A G 5: 147,269,698 (GRCm39) probably null Het
Frs3 T A 17: 48,014,777 (GRCm39) L490Q probably damaging Het
Gm6882 G A 7: 21,161,559 (GRCm39) T103I possibly damaging Het
Gsdmd C T 15: 75,736,270 (GRCm39) T133I probably benign Het
Hhipl2 C A 1: 183,209,540 (GRCm39) C331* probably null Het
Ifnar1 C A 16: 91,302,224 (GRCm39) D566E possibly damaging Het
Ighv1-34 A T 12: 114,814,939 (GRCm39) N74K probably benign Het
Itk T C 11: 46,233,222 (GRCm39) probably null Het
Kdm7a T C 6: 39,122,461 (GRCm39) D801G probably benign Het
Marchf1 T C 8: 66,871,641 (GRCm39) L139P probably damaging Het
Metap1d T C 2: 71,345,982 (GRCm39) V181A probably damaging Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mucl3 T C 17: 35,948,486 (GRCm39) H371R possibly damaging Het
Ntng2 C A 2: 29,138,050 (GRCm39) M1I probably null Het
Or51b17 C T 7: 103,542,256 (GRCm39) G229R probably benign Het
Or51q1 A C 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or8b57 T C 9: 40,003,695 (GRCm39) K189R probably benign Het
Pla2g12a A G 3: 129,672,465 (GRCm39) D33G probably damaging Het
Prlhr A G 19: 60,456,284 (GRCm39) V94A possibly damaging Het
Ralgapb T A 2: 158,292,192 (GRCm39) S793T probably benign Het
Rapgef6 T A 11: 54,522,127 (GRCm39) L455* probably null Het
Sbf2 T C 7: 110,040,669 (GRCm39) H386R probably benign Het
Sec23ip C A 7: 128,365,749 (GRCm39) N539K probably damaging Het
Shisa4 A G 1: 135,300,907 (GRCm39) L121P probably damaging Het
Slc28a2b C T 2: 122,355,617 (GRCm39) T603I probably benign Het
Stard9 T A 2: 120,510,306 (GRCm39) F296I probably damaging Het
Strn3 T C 12: 51,707,955 (GRCm39) K147E probably damaging Het
Taf5l T C 8: 124,724,841 (GRCm39) N326S probably benign Het
Tfb2m T A 1: 179,369,914 (GRCm39) I170L probably benign Het
Tfec T C 6: 16,845,422 (GRCm39) N79S possibly damaging Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Tox3 T C 8: 91,074,507 (GRCm39) Y24C probably damaging Het
Vmn2r6 A T 3: 64,463,526 (GRCm39) L436* probably null Het
Vmn2r80 A G 10: 78,984,707 (GRCm39) I20V probably benign Het
Wdr97 T C 15: 76,245,684 (GRCm39) V1307A Het
Other mutations in Mrps25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02827:Mrps25 APN 6 92,152,163 (GRCm39) missense probably benign
R1157:Mrps25 UTSW 6 92,160,947 (GRCm39) missense probably damaging 0.98
R1847:Mrps25 UTSW 6 92,155,721 (GRCm39) missense probably damaging 1.00
R4641:Mrps25 UTSW 6 92,160,881 (GRCm39) missense probably benign 0.00
R4762:Mrps25 UTSW 6 92,152,085 (GRCm39) missense probably damaging 1.00
R6241:Mrps25 UTSW 6 92,160,819 (GRCm39) critical splice donor site probably null
R9733:Mrps25 UTSW 6 92,155,715 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCATATCTGCTGAGAGAAAG -3'
(R):5'- GCAAGTTGGAGACCATGGTG -3'

Sequencing Primer
(F):5'- TGTCCAAGGACTCGTAACTAACTGG -3'
(R):5'- GGAGACCATGGTGATCTTGAC -3'
Posted On 2020-09-02