Incidental Mutation 'R1927:Mrpl52'
ID 214985
Institutional Source Beutler Lab
Gene Symbol Mrpl52
Ensembl Gene ENSMUSG00000010406
Gene Name mitochondrial ribosomal protein L52
Synonyms 1110047B07Rik
MMRRC Submission 039945-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1927 (G1)
Quality Score 190
Status Not validated
Chromosome 14
Chromosomal Location 54664366-54667207 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54664414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 9 (S9P)
Ref Sequence ENSEMBL: ENSMUSP00000010550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010550] [ENSMUST00000089688] [ENSMUST00000196273] [ENSMUST00000197874] [ENSMUST00000199195] [ENSMUST00000225641]
AlphaFold Q9D0Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000010550
AA Change: S9P

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000089688
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:PG_binding_1 36 88 2.1e-12 PFAM
ZnMc 115 285 6.01e-58 SMART
HX 323 366 3.97e-9 SMART
HX 368 412 1.42e-10 SMART
HX 415 461 4.45e-12 SMART
HX 463 508 1.61e-9 SMART
Pfam:DUF3377 512 582 2.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196273
Predicted Effect probably benign
Transcript: ENSMUST00000197874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199689
Predicted Effect probably benign
Transcript: ENSMUST00000199195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228871
Predicted Effect probably benign
Transcript: ENSMUST00000225641
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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 which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,613,338 (GRCm39) S31P probably damaging Het
Abca12 G T 1: 71,283,999 (GRCm39) H2524Q probably damaging Het
Acsl5 T C 19: 55,266,586 (GRCm39) V135A probably benign Het
Actl11 T G 9: 107,806,736 (GRCm39) L353R possibly damaging Het
Adcy6 G T 15: 98,496,379 (GRCm39) probably null Het
B230104I21Rik A G 4: 154,425,694 (GRCm39) I697T probably damaging Het
BC061237 G A 14: 44,738,700 (GRCm39) R33K possibly damaging Het
Brf1 C A 12: 112,963,964 (GRCm39) V5F possibly damaging Het
Chmp2a C T 7: 12,767,863 (GRCm39) A21T possibly damaging Het
Cwh43 A G 5: 73,610,417 (GRCm39) N607S probably benign Het
Ddhd2 G A 8: 26,231,688 (GRCm39) L445F possibly damaging Het
Dicer1 C A 12: 104,669,143 (GRCm39) D1180Y possibly damaging Het
Dnaaf4 A T 9: 72,867,909 (GRCm39) I57L probably damaging Het
Dock5 A T 14: 68,083,511 (GRCm39) S133T possibly damaging Het
Efs A T 14: 55,154,620 (GRCm39) C540S possibly damaging Het
Ehd4 C T 2: 119,921,973 (GRCm39) G428S probably benign Het
Eml1 C T 12: 108,504,476 (GRCm39) R812* probably null Het
Enpp1 C T 10: 24,530,786 (GRCm39) D557N possibly damaging Het
Fn3krp A G 11: 121,315,803 (GRCm39) T65A probably damaging Het
Galnt5 A G 2: 57,888,615 (GRCm39) R72G probably benign Het
Gfod1 C T 13: 43,354,336 (GRCm39) R213H possibly damaging Het
Gm10518 A G 1: 179,631,210 (GRCm39) probably benign Het
Gm5431 A G 11: 48,780,082 (GRCm39) F558S probably damaging Het
Got1 C T 19: 43,504,119 (GRCm39) probably null Het
Gucy2g C T 19: 55,226,191 (GRCm39) V242I probably benign Het
Hdgfl2 T A 17: 56,406,874 (GRCm39) V606E possibly damaging Het
Hoxa3 T C 6: 52,146,979 (GRCm39) probably benign Het
Iqub T A 6: 24,491,670 (GRCm39) I339L probably benign Het
Kdm4c C T 4: 74,263,720 (GRCm39) T668I probably benign Het
Klhl32 T C 4: 24,617,474 (GRCm39) I592V probably benign Het
Mfsd12 G T 10: 81,197,921 (GRCm39) M296I probably benign Het
Mfsd4b4 C T 10: 39,768,437 (GRCm39) A219T probably damaging Het
Nbr1 A G 11: 101,458,040 (GRCm39) Y273C possibly damaging Het
Ncf4 G T 15: 78,144,846 (GRCm39) G217V probably damaging Het
Neo1 T C 9: 58,897,668 (GRCm39) E96G probably benign Het
Nid2 T A 14: 19,818,344 (GRCm39) N279K probably damaging Het
Nr5a2 A G 1: 136,872,732 (GRCm39) Y56H probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nynrin A G 14: 56,101,049 (GRCm39) T280A probably benign Het
Or1o2 A G 17: 37,542,434 (GRCm39) Y276H probably damaging Het
Or2b28 T A 13: 21,531,116 (GRCm39) I6N probably benign Het
Or2w2 A G 13: 21,758,426 (GRCm39) F67L probably benign Het
Or55b10 A G 7: 102,143,266 (GRCm39) S239P possibly damaging Het
Or5b109 T C 19: 13,212,393 (GRCm39) Y260H probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Ptprn A G 1: 75,230,766 (GRCm39) V565A probably benign Het
Rbm6 T G 9: 107,730,102 (GRCm39) D182A probably damaging Het
Rhbg A G 3: 88,151,859 (GRCm39) F400L probably benign Het
Rpl22l1 T A 3: 28,860,738 (GRCm39) N33K possibly damaging Het
Rtp1 T A 16: 23,249,959 (GRCm39) I108N probably damaging Het
Sema6b A T 17: 56,439,797 (GRCm39) F15I probably benign Het
Sirpa C T 2: 129,458,296 (GRCm39) T304I possibly damaging Het
Slc22a29 A G 19: 8,184,430 (GRCm39) I257T probably benign Het
Slc41a1 T C 1: 131,768,938 (GRCm39) I256T probably damaging Het
Smg6 A G 11: 75,033,674 (GRCm39) K1208R probably damaging Het
Sorcs1 G T 19: 50,210,633 (GRCm39) P744Q probably damaging Het
Sptbn5 T C 2: 119,900,943 (GRCm39) T213A probably benign Het
St18 A G 1: 6,872,936 (GRCm39) T224A probably benign Het
Stat3 T C 11: 100,785,655 (GRCm39) N465S probably damaging Het
Stmn2 T A 3: 8,610,636 (GRCm39) M40K probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Thrb T A 14: 18,008,674 (GRCm38) C133S probably damaging Het
Tmem25 C T 9: 44,707,780 (GRCm39) V172M possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trhde T A 10: 114,636,754 (GRCm39) Y151F probably damaging Het
Trp53bp2 A G 1: 182,280,229 (GRCm39) T912A probably damaging Het
Unc79 C A 12: 103,135,951 (GRCm39) A2269E probably damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp758 T G 17: 22,594,823 (GRCm39) S436R probably damaging Het
Zfp791 G T 8: 85,837,312 (GRCm39) T184K probably benign Het
Znrf3 A G 11: 5,231,062 (GRCm39) V817A probably benign Het
Other mutations in Mrpl52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Mrpl52 APN 14 54,664,494 (GRCm39) missense possibly damaging 0.63
IGL01335:Mrpl52 APN 14 54,664,656 (GRCm39) missense probably damaging 1.00
R0899:Mrpl52 UTSW 14 54,664,541 (GRCm39) nonsense probably null
R5653:Mrpl52 UTSW 14 54,664,686 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCTGTTCAGAACACTCAGCC -3'
(R):5'- TTGACATCAAGGCTCACCCG -3'

Sequencing Primer
(F):5'- TGTTCAGAACACTCAGCCCACAG -3'
(R):5'- AGGACCAGTCAGGGAGCTC -3'
Posted On 2014-07-14