Incidental Mutation 'IGL00959:Mrpl52'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl52
Ensembl Gene ENSMUSG00000010406
Gene Namemitochondrial ribosomal protein L52
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00959
Quality Score
Chromosomal Location54426909-54429756 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54427037 bp
Amino Acid Change Valine to Alanine at position 11 (V11A)
Ref Sequence ENSEMBL: ENSMUSP00000010550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010550] [ENSMUST00000089688] [ENSMUST00000196273] [ENSMUST00000197874] [ENSMUST00000199195] [ENSMUST00000225641]
Predicted Effect possibly damaging
Transcript: ENSMUST00000010550
AA Change: V11A

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000089688
SMART Domains Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957

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: ENSMUST00000199153
Predicted Effect probably benign
Transcript: ENSMUST00000199195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200217
Predicted Effect probably benign
Transcript: ENSMUST00000225641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228871
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,166,243 H430L probably damaging Het
Aox4 G T 1: 58,239,174 V443F probably damaging Het
Bmpr2 A T 1: 59,815,315 I108F possibly damaging Het
Cflar G A 1: 58,729,162 probably null Het
Chchd3 A G 6: 32,968,253 V106A probably benign Het
Chl1 G T 6: 103,709,250 probably null Het
Clvs2 C T 10: 33,528,463 M252I probably benign Het
Cntnap5a T A 1: 116,184,327 L449Q probably benign Het
Col6a2 T A 10: 76,614,534 I188F probably damaging Het
Cyp2c55 A G 19: 39,038,143 D398G probably benign Het
Dennd1b T C 1: 139,143,888 probably benign Het
Dopey1 T A 9: 86,487,431 Y106N probably damaging Het
Dpy19l1 A T 9: 24,423,197 probably null Het
Extl3 C T 14: 65,076,912 V274I probably benign Het
Fras1 G A 5: 96,781,281 R3848H probably damaging Het
Gm11437 A C 11: 84,148,622 probably benign Het
Gss T A 2: 155,581,951 D2V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilvbl G A 10: 78,583,905 D548N probably damaging Het
Jmjd6 A T 11: 116,842,376 D115E possibly damaging Het
Kidins220 T A 12: 25,051,133 S1110R possibly damaging Het
Kmt2c T A 5: 25,276,229 I4784F probably damaging Het
Myo3b A G 2: 70,314,292 Y1036C probably damaging Het
Olfr769 T A 10: 129,112,024 M134L probably benign Het
Omp T C 7: 98,145,150 D90G probably damaging Het
Osmr T C 15: 6,824,605 I541V probably benign Het
Ppp1r32 A T 19: 10,477,523 probably null Het
Ppp2r1a A T 17: 20,961,578 probably benign Het
Ptpn13 T A 5: 103,517,571 probably null Het
Rock2 C A 12: 16,978,055 N1429K probably benign Het
Slc25a20 T G 9: 108,681,999 M188R possibly damaging Het
Slc28a1 T C 7: 81,169,068 probably benign Het
Sult2a6 T C 7: 14,254,709 Y42C probably damaging Het
Tgfb2 A G 1: 186,704,587 V63A probably benign Het
Ugt2b38 A T 5: 87,411,823 N403K probably damaging Het
Vmn2r29 A G 7: 7,241,856 W340R probably benign Het
Wnt5a C T 14: 28,522,909 T351M probably damaging Het
Other mutations in Mrpl52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Mrpl52 APN 14 54427199 missense probably damaging 1.00
R0899:Mrpl52 UTSW 14 54427084 nonsense probably null
R1927:Mrpl52 UTSW 14 54426957 missense possibly damaging 0.60
R5653:Mrpl52 UTSW 14 54427229 missense probably damaging 0.99
Posted On2013-04-17