Incidental Mutation 'R4135:Mrpl32'
ID 314863
Institutional Source Beutler Lab
Gene Symbol Mrpl32
Ensembl Gene ENSMUSG00000015672
Gene Name mitochondrial ribosomal protein L32
Synonyms 0610033O15Rik
MMRRC Submission 040995-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # R4135 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14784886-14787622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14787564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 14 (V14M)
Ref Sequence ENSEMBL: ENSMUSP00000152859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015816] [ENSMUST00000170836] [ENSMUST00000220621] [ENSMUST00000221168] [ENSMUST00000221699]
AlphaFold Q9DCI9
Predicted Effect unknown
Transcript: ENSMUST00000015816
AA Change: V13M
SMART Domains Protein: ENSMUSP00000015816
Gene: ENSMUSG00000015672
AA Change: V13M

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Proteasome_A_N 6 28 1.73e-5 SMART
Pfam:Proteasome 29 213 1.2e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220621
AA Change: V14M

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000221168
Predicted Effect probably damaging
Transcript: ENSMUST00000221699
AA Change: V14M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223530
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,905,092 (GRCm39) probably benign Het
Bak1 T A 17: 27,240,244 (GRCm39) T148S possibly damaging Het
Cdc25a C A 9: 109,710,585 (GRCm39) H157Q possibly damaging Het
Chst5 T C 8: 112,616,816 (GRCm39) Y268C probably damaging Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Ctsr T C 13: 61,309,084 (GRCm39) T224A probably benign Het
Cux1 T C 5: 136,336,750 (GRCm39) K921E probably damaging Het
Dcaf12l1 T C X: 43,878,330 (GRCm39) N156S probably damaging Het
Dennd2d T A 3: 106,389,977 (GRCm39) D2E probably benign Het
Dock2 T C 11: 34,605,328 (GRCm39) K264E possibly damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Gabrb3 G T 7: 57,241,036 (GRCm39) A5S probably benign Het
Gcnt2 T A 13: 41,041,283 (GRCm39) N147K probably damaging Het
Gm6987 T A X: 93,068,216 (GRCm39) noncoding transcript Het
Hbp1 A T 12: 31,984,421 (GRCm39) L262Q probably damaging Het
Hsd11b2 T C 8: 106,249,798 (GRCm39) V303A probably benign Het
Htr5a A G 5: 28,047,690 (GRCm39) M82V probably benign Het
Mcc T C 18: 44,857,707 (GRCm39) D136G probably benign Het
Msl1 A G 11: 98,687,126 (GRCm39) D157G possibly damaging Het
Mthfd1 G A 12: 76,329,648 (GRCm39) probably null Het
Nkx6-1 T A 5: 101,807,371 (GRCm39) D337V probably damaging Het
Nlrp5 T C 7: 23,117,823 (GRCm39) W516R possibly damaging Het
Or2ag1 A G 7: 106,313,210 (GRCm39) L226P probably damaging Het
Or2l13b T A 16: 19,349,452 (GRCm39) I73F possibly damaging Het
Or2y3 A G 17: 38,393,248 (GRCm39) V207A possibly damaging Het
Or4l1 T C 14: 50,166,272 (GRCm39) H243R probably damaging Het
Or5af1 C A 11: 58,722,820 (GRCm39) T280K probably damaging Het
Pate5 A G 9: 35,750,724 (GRCm39) S33P possibly damaging Het
Pold3 T A 7: 99,749,854 (GRCm39) R104* probably null Het
Rapsn A T 2: 90,867,162 (GRCm39) N155Y probably damaging Het
Rorc C A 3: 94,296,826 (GRCm39) Q269K probably damaging Het
Rreb1 A T 13: 38,131,099 (GRCm39) N1418Y probably damaging Het
Rusc2 G A 4: 43,425,563 (GRCm39) D1223N possibly damaging Het
Sema6d T C 2: 124,506,040 (GRCm39) I616T probably damaging Het
Ttc6 T A 12: 57,679,581 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,338,810 (GRCm39) Y58F probably damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Vwa5b1 A T 4: 138,321,641 (GRCm39) M384K possibly damaging Het
Washc3 G A 10: 88,055,142 (GRCm39) E111K probably benign Het
Xirp2 A G 2: 67,355,741 (GRCm39) S3501G probably benign Het
Zfp1004 A T 2: 150,023,788 (GRCm39) probably benign Het
Zfp352 C T 4: 90,113,261 (GRCm39) T467M probably damaging Het
Zfp729a C A 13: 67,767,925 (GRCm39) C768F probably damaging Het
Zfp810 T C 9: 22,190,369 (GRCm39) K180E probably damaging Het
Other mutations in Mrpl32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Mrpl32 APN 13 14,785,178 (GRCm39) missense probably benign
R1226:Mrpl32 UTSW 13 14,786,096 (GRCm39) missense probably benign 0.12
R2358:Mrpl32 UTSW 13 14,785,165 (GRCm39) missense probably damaging 0.99
R3873:Mrpl32 UTSW 13 14,787,630 (GRCm39) unclassified probably benign
R7627:Mrpl32 UTSW 13 14,787,498 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGGCATTATCACTTTTGCGATACAC -3'
(R):5'- GGATCACAGCGGTCTTTGAC -3'

Sequencing Primer
(F):5'- GGCTATACAGTGAGTTCTAGACCAC -3'
(R):5'- GGTCTTTGACCCTTGCGCATG -3'
Posted On 2015-05-14