Incidental Mutation 'IGL02250:Mrps2'
ID 286336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps2
Ensembl Gene ENSMUSG00000035772
Gene Name mitochondrial ribosomal protein S2
Synonyms 1500019M10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # IGL02250
Quality Score
Status
Chromosome 2
Chromosomal Location 28358078-28361190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28359557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 138 (I138T)
Ref Sequence ENSEMBL: ENSMUSP00000036725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038600] [ENSMUST00000086370] [ENSMUST00000127683]
AlphaFold Q924T2
Predicted Effect possibly damaging
Transcript: ENSMUST00000038600
AA Change: I138T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772
AA Change: I138T

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T A 7: 28,329,135 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Areg T A 5: 91,288,967 (GRCm39) I91K possibly damaging Het
Arf1 G A 11: 59,103,993 (GRCm39) R79C probably benign Het
Bbs2 A T 8: 94,819,054 (GRCm39) I105N probably benign Het
Ccdc158 A T 5: 92,756,337 (GRCm39) I1090N probably damaging Het
Ccdc90b T A 7: 92,223,823 (GRCm39) probably benign Het
Cep57 A T 9: 13,721,939 (GRCm39) F221I probably damaging Het
Ckap5 C T 2: 91,379,246 (GRCm39) A62V probably damaging Het
Cntn5 G A 9: 10,145,336 (GRCm39) R125C probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxxc1 T A 18: 74,352,240 (GRCm39) D321E probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dnm1l A G 16: 16,139,550 (GRCm39) probably benign Het
Eif2d T A 1: 131,088,166 (GRCm39) S184T probably benign Het
Emcn T A 3: 137,124,747 (GRCm39) probably benign Het
Fry A T 5: 150,326,899 (GRCm39) probably benign Het
Gas2 T A 7: 51,537,786 (GRCm39) M37K probably damaging Het
Habp2 A G 19: 56,297,361 (GRCm39) S100G probably benign Het
Kcnj5 A G 9: 32,229,052 (GRCm39) C49R probably damaging Het
Lhx2 T A 2: 38,244,845 (GRCm39) D236E probably benign Het
Megf8 T A 7: 25,042,000 (GRCm39) S1273T probably benign Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Npat T A 9: 53,460,251 (GRCm39) Y66* probably null Het
Nup160 A G 2: 90,539,214 (GRCm39) R798G probably damaging Het
Or52n2c T C 7: 104,574,222 (GRCm39) I250V probably damaging Het
Or8b54 C A 9: 38,686,850 (GRCm39) Q100K probably damaging Het
Plxnc1 C T 10: 94,706,893 (GRCm39) G548E probably benign Het
Radil A G 5: 142,529,529 (GRCm39) S56P probably damaging Het
Rpgrip1l A T 8: 91,959,489 (GRCm39) M1137K probably benign Het
Serpina1c T G 12: 103,863,487 (GRCm39) M238L probably benign Het
Tbc1d14 A G 5: 36,728,863 (GRCm39) S168P probably damaging Het
Tmem209 A G 6: 30,487,387 (GRCm39) S498P probably damaging Het
Utrn A G 10: 12,312,135 (GRCm39) Y607H probably damaging Het
Vipr1 A G 9: 121,494,255 (GRCm39) I279V probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Xirp2 C T 2: 67,344,356 (GRCm39) T2199I probably benign Het
Zfp423 A G 8: 88,509,883 (GRCm39) S86P probably damaging Het
Zfp831 A G 2: 174,489,994 (GRCm39) K1254E possibly damaging Het
Zfp873 T A 10: 81,894,252 (GRCm39) M1K probably null Het
Other mutations in Mrps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Mrps2 APN 2 28,358,348 (GRCm39) missense probably benign 0.00
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
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
Posted On 2015-04-16