Incidental Mutation 'IGL01819:Mrps2'
ID 154466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps2
Ensembl Gene ENSMUSG00000035772
Gene Name mitochondrial ribosomal protein S2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock # IGL01819
Quality Score
Status
Chromosome 2
Chromosomal Location 28468066-28471178 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28468336 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 46 (V46A)
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: V46A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772
AA Change: V46A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Mrps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02250:Mrps2 APN 2 28469545 missense possibly damaging 0.95
IGL03172:Mrps2 APN 2 28469806 missense probably damaging 0.99
R0090:Mrps2 UTSW 2 28468256 missense probably damaging 0.99
R0325:Mrps2 UTSW 2 28469779 missense probably damaging 1.00
R1437:Mrps2 UTSW 2 28468887 missense probably damaging 1.00
R1511:Mrps2 UTSW 2 28469664 missense probably damaging 0.96
R1589:Mrps2 UTSW 2 28469488 missense probably benign 0.06
R1590:Mrps2 UTSW 2 28469488 missense probably benign 0.06
R1591:Mrps2 UTSW 2 28469488 missense probably benign 0.06
R2098:Mrps2 UTSW 2 28468315 missense probably benign 0.04
R4067:Mrps2 UTSW 2 28469770 missense probably benign 0.10
R4376:Mrps2 UTSW 2 28468859 missense probably benign 0.00
R4541:Mrps2 UTSW 2 28468400 unclassified probably benign
R4761:Mrps2 UTSW 2 28469934 missense probably benign 0.00
R5207:Mrps2 UTSW 2 28469751 missense probably damaging 0.99
R7109:Mrps2 UTSW 2 28468246 missense probably benign 0.35
Posted On 2014-02-04