Incidental Mutation 'R4541:Mrps2'
ID 333521
Institutional Source Beutler Lab
Gene Symbol Mrps2
Ensembl Gene ENSMUSG00000035772
Gene Name mitochondrial ribosomal protein S2
Synonyms 1500019M10Rik
MMRRC Submission 041777-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R4541 (G1)
Quality Score 193
Status Validated
Chromosome 2
Chromosomal Location 28358078-28361190 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 28358412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038600] [ENSMUST00000086370] [ENSMUST00000127683]
AlphaFold Q924T2
Predicted Effect probably benign
Transcript: ENSMUST00000038600
SMART Domains Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772

DomainStartEndE-ValueType
Pfam:Ribosomal_S2 81 182 4.6e-23 PFAM
Pfam:Ribosomal_S2 180 257 7.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086370
SMART Domains Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831

DomainStartEndE-ValueType
Pfam:DUF4490 35 137 1.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126242
Predicted Effect probably benign
Transcript: ENSMUST00000127683
SMART Domains Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831

DomainStartEndE-ValueType
Pfam:DUF4490 33 122 1.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146332
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (51/53)
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 S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,769,676 (GRCm39) P73S probably benign Het
4930533L02Rik G A 7: 124,917,750 (GRCm39) noncoding transcript Het
Acot4 A T 12: 84,090,022 (GRCm39) I240F probably benign Het
B4galt6 A G 18: 20,878,496 (GRCm39) V10A probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccnb3 T C X: 6,875,308 (GRCm39) T424A probably benign Het
Cd8a A T 6: 71,350,856 (GRCm39) D107V probably benign Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Ceacam12 G A 7: 17,805,648 (GRCm39) M278I probably benign Het
Cfap43 C T 19: 47,736,454 (GRCm39) V1346I probably benign Het
Clic5 C T 17: 44,552,956 (GRCm39) T70M probably damaging Het
Dbpht2 A T 12: 74,345,934 (GRCm39) noncoding transcript Het
Ddhd1 G A 14: 45,860,313 (GRCm39) R140* probably null Het
Evpl T G 11: 116,123,470 (GRCm39) I301L probably benign Het
Glul T A 1: 153,778,782 (GRCm39) Y30* probably null Het
Itgad A T 7: 127,797,287 (GRCm39) H878L probably benign Het
Kcnk10 A G 12: 98,402,536 (GRCm39) I301T probably damaging Het
Klhl14 A T 18: 21,687,696 (GRCm39) Y575* probably null Het
Mymx GCC GC 17: 45,912,519 (GRCm39) probably null Het
Napb G A 2: 148,551,229 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,171,706 (GRCm39) noncoding transcript Het
Or10g9b A C 9: 39,917,589 (GRCm39) S219A possibly damaging Het
Or4f15 A G 2: 111,813,981 (GRCm39) I146T probably benign Het
Piwil4 C A 9: 14,629,612 (GRCm39) M438I probably damaging Het
Pla2r1 C T 2: 60,258,082 (GRCm39) D1199N probably damaging Het
Pmpca T G 2: 26,280,201 (GRCm39) probably benign Het
Prkcq G T 2: 11,288,623 (GRCm39) M525I possibly damaging Het
Rnf225 T C 7: 12,662,520 (GRCm39) probably null Het
Sco1 G T 11: 66,943,668 (GRCm39) A50S probably benign Het
Slc12a2 T A 18: 58,046,037 (GRCm39) probably null Het
Slc36a1 T C 11: 55,112,849 (GRCm39) V148A probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Tbc1d10c G T 19: 4,239,473 (GRCm39) R96S probably damaging Het
Tbc1d2b A T 9: 90,087,222 (GRCm39) I919N probably damaging Het
Tcea1 T C 1: 4,963,659 (GRCm39) L233P probably damaging Het
Tlcd4 A G 3: 121,028,884 (GRCm39) M1T probably null Het
Tmem231 T C 8: 112,641,224 (GRCm39) T223A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tomm34 A G 2: 163,896,719 (GRCm39) Y243H probably benign Het
Tubgcp4 A T 2: 121,025,907 (GRCm39) N584I probably benign Het
Vldlr T C 19: 27,216,192 (GRCm39) C7R probably damaging Het
Vmn1r42 A T 6: 89,822,533 (GRCm39) M12K probably benign Het
Vsig10 C T 5: 117,490,881 (GRCm39) probably benign Het
Zfp974 C G 7: 27,625,829 (GRCm39) V14L probably damaging Het
Other mutations in Mrps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Mrps2 APN 2 28,358,348 (GRCm39) missense probably benign 0.00
IGL02250:Mrps2 APN 2 28,359,557 (GRCm39) missense possibly damaging 0.95
IGL03172:Mrps2 APN 2 28,359,818 (GRCm39) missense probably damaging 0.99
R0090:Mrps2 UTSW 2 28,358,268 (GRCm39) missense probably damaging 0.99
R0325:Mrps2 UTSW 2 28,359,791 (GRCm39) missense probably damaging 1.00
R1437:Mrps2 UTSW 2 28,358,899 (GRCm39) missense probably damaging 1.00
R1511:Mrps2 UTSW 2 28,359,676 (GRCm39) missense probably damaging 0.96
R1589:Mrps2 UTSW 2 28,359,500 (GRCm39) missense probably benign 0.06
R1590:Mrps2 UTSW 2 28,359,500 (GRCm39) missense probably benign 0.06
R1591:Mrps2 UTSW 2 28,359,500 (GRCm39) missense probably benign 0.06
R2098:Mrps2 UTSW 2 28,358,327 (GRCm39) missense probably benign 0.04
R4067:Mrps2 UTSW 2 28,359,782 (GRCm39) missense probably benign 0.10
R4376:Mrps2 UTSW 2 28,358,871 (GRCm39) missense probably benign 0.00
R4761:Mrps2 UTSW 2 28,359,946 (GRCm39) missense probably benign 0.00
R5207:Mrps2 UTSW 2 28,359,763 (GRCm39) missense probably damaging 0.99
R7109:Mrps2 UTSW 2 28,358,258 (GRCm39) missense probably benign 0.35
R9649:Mrps2 UTSW 2 28,359,764 (GRCm39) missense possibly damaging 0.66
R9748:Mrps2 UTSW 2 28,359,594 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TCTGCAGGATCTCTGTCCAC -3'
(R):5'- TGACTTCGGGTGCCTTAAAC -3'

Sequencing Primer
(F):5'- TGAGCGCGGTGAATCTC -3'
(R):5'- GGTGCCTTAAACGCCCCTC -3'
Posted On 2015-08-18