Incidental Mutation 'IGL01661:Mrpl32'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl32
Ensembl Gene ENSMUSG00000015672
Gene Namemitochondrial ribosomal protein L32
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.806) question?
Stock #IGL01661
Quality Score
Chromosomal Location14608184-14613165 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14610593 bp
Amino Acid Change Valine to Isoleucine at position 153 (V153I)
Ref Sequence ENSEMBL: ENSMUSP00000152345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015816] [ENSMUST00000170836] [ENSMUST00000220621] [ENSMUST00000221699]
Predicted Effect probably benign
Transcript: ENSMUST00000015816
SMART Domains Protein: ENSMUSP00000015816
Gene: ENSMUSG00000015672

low complexity region 3 11 N/A INTRINSIC
low complexity region 25 32 N/A INTRINSIC
Pfam:Ribosomal_L32p 78 135 7.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170836
SMART Domains Protein: ENSMUSP00000129767
Gene: ENSMUSG00000015671

Proteasome_A_N 6 28 1.73e-5 SMART
Pfam:Proteasome 29 213 1.2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220621
AA Change: V153I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223530
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 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,442,995 F1569L probably benign Het
Acly A G 11: 100,514,342 probably benign Het
Adgre5 T A 8: 83,727,935 N313I probably damaging Het
Ccdc17 A G 4: 116,597,866 H206R probably benign Het
Cenpo C T 12: 4,234,023 probably null Het
Galnt5 G T 2: 57,999,482 A365S probably benign Het
Josd1 G A 15: 79,677,127 P160L probably damaging Het
Lamc1 C A 1: 153,221,573 R1575L possibly damaging Het
Mtor A G 4: 148,514,851 K1452R possibly damaging Het
Nob1 T C 8: 107,413,182 Y315C probably damaging Het
Olfr1066 T C 2: 86,455,502 I256M possibly damaging Het
Olfr48 T A 2: 89,844,095 M293L probably benign Het
Prex2 A G 1: 11,208,614 N1389S probably benign Het
Ptprd G A 4: 75,954,083 T1383M probably damaging Het
Ralbp1 A G 17: 65,861,389 L307P probably damaging Het
Sema4f A G 6: 82,918,055 probably benign Het
Slc2a3 A G 6: 122,729,956 V486A probably benign Het
Spock2 T A 10: 60,123,870 H140Q probably damaging Het
Tmc4 A G 7: 3,666,927 I610T probably damaging Het
Tnc T C 4: 63,970,307 probably benign Het
Ttll8 T C 15: 88,935,999 probably benign Het
Other mutations in Mrpl32
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1226:Mrpl32 UTSW 13 14611511 missense probably benign 0.12
R2358:Mrpl32 UTSW 13 14610580 missense probably damaging 0.99
R3873:Mrpl32 UTSW 13 14613045 unclassified probably benign
R4135:Mrpl32 UTSW 13 14612979 missense probably damaging 0.97
R7627:Mrpl32 UTSW 13 14612913 missense probably benign
Posted On2014-01-21