Incidental Mutation 'R7109:Mrps2'
ID 551374
Institutional Source Beutler Lab
Gene Symbol Mrps2
Ensembl Gene ENSMUSG00000035772
Gene Name mitochondrial ribosomal protein S2
Synonyms 1500019M10Rik
MMRRC Submission 045201-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R7109 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 28358078-28361190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28358258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 16 (V16E)
Ref Sequence ENSEMBL: ENSMUSP00000036725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038600] [ENSMUST00000086370] [ENSMUST00000127683]
AlphaFold Q924T2
Predicted Effect probably benign
Transcript: ENSMUST00000038600
AA Change: V16E

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772
AA Change: V16E

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 probably benign
Transcript: ENSMUST00000127683
SMART Domains Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831

DomainStartEndE-ValueType
Pfam:DUF4490 33 122 1.5e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T G 2: 151,315,673 (GRCm39) K2Q probably damaging Het
Abtb2 T C 2: 103,545,860 (GRCm39) Y903H probably benign Het
Adamtsl3 C T 7: 82,261,069 (GRCm39) P29S Het
Alcam T A 16: 52,097,192 (GRCm39) T355S probably damaging Het
Anapc1 A G 2: 128,516,522 (GRCm39) V404A probably benign Het
Bst2 A G 8: 71,989,926 (GRCm39) F49S possibly damaging Het
C1qtnf9 G C 14: 61,017,019 (GRCm39) W183S probably benign Het
Camsap3 A G 8: 3,648,087 (GRCm39) I132V possibly damaging Het
Cchcr1 T A 17: 35,828,838 (GRCm39) probably null Het
Cenpk A G 13: 104,367,256 (GRCm39) K31E probably benign Het
Cfap221 T C 1: 119,853,301 (GRCm39) K798E possibly damaging Het
Copb2 T A 9: 98,463,333 (GRCm39) probably null Het
Dennd1a T A 2: 37,938,804 (GRCm39) Y102F probably damaging Het
Eif2ak4 C T 2: 118,235,532 (GRCm39) P88S probably damaging Het
Epha6 C A 16: 59,503,031 (GRCm39) V959F probably damaging Het
Fam193a C A 5: 34,623,165 (GRCm39) T1251K possibly damaging Het
Herc1 A T 9: 66,389,171 (GRCm39) Q3896L probably benign Het
Ikbip C A 10: 90,919,090 (GRCm39) D34E probably benign Het
Insr A G 8: 3,308,481 (GRCm39) V185A probably benign Het
Jakmip1 C T 5: 37,332,109 (GRCm39) Q930* probably null Het
Klc1 A G 12: 111,743,299 (GRCm39) I209V probably benign Het
Lrrk2 T A 15: 91,648,985 (GRCm39) L1660M probably damaging Het
Mbd3l1 G T 9: 18,396,210 (GRCm39) D112Y possibly damaging Het
Ncoa1 G A 12: 4,372,978 (GRCm39) T141I possibly damaging Het
Ndst2 G T 14: 20,779,911 (GRCm39) R110S probably damaging Het
Nlrp2 A G 7: 5,331,616 (GRCm39) V260A probably damaging Het
Or4d10 A G 19: 12,051,576 (GRCm39) I140T probably benign Het
Or51a6 A T 7: 102,604,460 (GRCm39) V116E probably damaging Het
Or5p1 A G 7: 107,916,959 (GRCm39) N286S probably damaging Het
Or7g16 A T 9: 18,726,904 (GRCm39) S229T probably benign Het
Pah T C 10: 87,406,148 (GRCm39) V262A probably damaging Het
Pcnt T G 10: 76,205,738 (GRCm39) E2538A probably damaging Het
Pdxk T A 10: 78,282,810 (GRCm39) I162F probably damaging Het
Plod2 T C 9: 92,455,650 (GRCm39) F110L probably damaging Het
Pm20d2 A T 4: 33,187,186 (GRCm39) L154Q probably damaging Het
Podxl2 C T 6: 88,820,566 (GRCm39) V445I possibly damaging Het
Ppp1r3a A T 6: 14,719,235 (GRCm39) W560R probably benign Het
Rasal3 A G 17: 32,611,683 (GRCm39) S815P probably damaging Het
Rdm1 A G 11: 101,524,654 (GRCm39) K196E probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Scn1a T C 2: 66,181,286 (GRCm39) D79G possibly damaging Het
Slc22a21 A G 11: 53,870,329 (GRCm39) Y119H possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Synrg C A 11: 83,930,498 (GRCm39) A1280E possibly damaging Het
Szt2 A G 4: 118,232,676 (GRCm39) C2396R unknown Het
Trappc3 A G 4: 126,167,726 (GRCm39) N95S probably benign Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Ush2a T A 1: 188,113,681 (GRCm39) D633E probably benign Het
Wasl G A 6: 24,633,186 (GRCm39) P151S probably benign Het
Wwp2 A G 8: 108,209,988 (GRCm39) N122S probably benign Het
Zfp51 A G 17: 21,683,831 (GRCm39) R149G possibly damaging Het
Zfp764 A G 7: 127,003,887 (GRCm39) S415P possibly 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
R4541:Mrps2 UTSW 2 28,358,412 (GRCm39) unclassified probably benign
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
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'- GGAAGAGTCTCTGCAGGATC -3'
(R):5'- TCCCACCACACTTAGATTGGTAC -3'

Sequencing Primer
(F):5'- AAGAGTCTCTGCAGGATCTCTGTC -3'
(R):5'- ACCACACTTAGATTGGTACTGGGTTC -3'
Posted On 2019-05-15