Incidental Mutation 'R6802:Mrpl15'
ID 533360
Institutional Source Beutler Lab
Gene Symbol Mrpl15
Ensembl Gene ENSMUSG00000033845
Gene Name mitochondrial ribosomal protein L15
Synonyms HSPC145, MRP-L7, Rpml7
MMRRC Submission 044915-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6802 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 4843429-4855962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4846953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 208 (S208P)
Ref Sequence ENSEMBL: ENSMUSP00000115512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045689] [ENSMUST00000130201] [ENSMUST00000146665] [ENSMUST00000156816]
AlphaFold Q9CPR5
Predicted Effect probably benign
Transcript: ENSMUST00000045689
Predicted Effect probably benign
Transcript: ENSMUST00000130201
SMART Domains Protein: ENSMUSP00000114649
Gene: ENSMUSG00000033845

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 42 176 4.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146665
SMART Domains Protein: ENSMUSP00000141204
Gene: ENSMUSG00000033845

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 42 126 6.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156816
AA Change: S208P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115512
Gene: ENSMUSG00000033845
AA Change: S208P

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 44 175 5e-29 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (54/54)
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 EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,698,725 (GRCm39) K38N probably damaging Het
Agap3 T A 5: 24,692,791 (GRCm39) I408N possibly damaging Het
Apold1 G A 6: 134,960,693 (GRCm39) R49H probably damaging Het
Arfgef1 A T 1: 10,259,677 (GRCm39) M597K probably benign Het
Bsn C T 9: 107,987,823 (GRCm39) probably benign Het
Ccdc177 A T 12: 80,806,057 (GRCm39) D72E probably damaging Het
Coa8 G T 12: 111,717,625 (GRCm39) G162W probably benign Het
Ctdp1 A T 18: 80,463,656 (GRCm39) probably null Het
Ctsj A T 13: 61,150,888 (GRCm39) L190M probably benign Het
Dhx57 A G 17: 80,582,750 (GRCm39) F285S probably benign Het
Dnah2 A T 11: 69,314,516 (GRCm39) V4051E probably damaging Het
F5 A T 1: 164,006,925 (GRCm39) D243V probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbxo30 G T 10: 11,167,224 (GRCm39) G649C probably damaging Het
Focad T C 4: 88,192,440 (GRCm39) S590P unknown Het
Focad G A 4: 88,262,921 (GRCm39) V973I unknown Het
Glb1l3 T C 9: 26,770,648 (GRCm39) probably null Het
Gli2 G A 1: 118,769,795 (GRCm39) R586C probably damaging Het
Gm6401 T A 14: 41,788,874 (GRCm39) E65V probably damaging Het
Gml2 T A 15: 74,696,095 (GRCm39) L163H probably damaging Het
Grm6 A T 11: 50,744,216 (GRCm39) Q229L probably benign Het
Gtf2h2 T C 13: 100,617,051 (GRCm39) M252V probably benign Het
Hsf4 G A 8: 106,001,300 (GRCm39) G309S probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Irgq A G 7: 24,231,076 (GRCm39) E89G probably benign Het
Kcnj6 T C 16: 94,563,436 (GRCm39) N354S probably benign Het
Lrguk A G 6: 34,039,392 (GRCm39) H301R probably damaging Het
Mc4r C A 18: 66,992,488 (GRCm39) M208I probably benign Het
Neil2 A G 14: 63,429,263 (GRCm39) F10S probably damaging Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Or12k7 A G 2: 36,958,427 (GRCm39) M37V probably benign Het
Or4c100 A G 2: 88,355,941 (GRCm39) T5A probably benign Het
Or8k22 G T 2: 86,163,529 (GRCm39) T57K possibly damaging Het
Pacs1 T C 19: 5,202,812 (GRCm39) I357V probably damaging Het
Pla2g15 T C 8: 106,877,213 (GRCm39) L32P probably damaging Het
Pms1 A T 1: 53,245,951 (GRCm39) S529R probably benign Het
Prkra A T 2: 76,463,881 (GRCm39) D260E probably damaging Het
Qsox1 A C 1: 155,671,139 (GRCm39) F127V probably damaging Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Robo1 T G 16: 72,730,201 (GRCm39) V214G probably benign Het
Ryr2 G A 13: 11,701,852 (GRCm39) A2935V probably damaging Het
Sgtb A T 13: 104,268,558 (GRCm39) Q198L probably benign Het
Slc39a12 C T 2: 14,424,896 (GRCm39) L376F probably benign Het
Socs1 C A 16: 10,602,222 (GRCm39) V172L probably benign Het
Sprr2k A G 3: 92,340,671 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,939 (GRCm39) probably benign Het
Tph2 A T 10: 115,020,778 (GRCm39) M6K probably damaging Het
Trav16 T A 14: 53,980,941 (GRCm39) C43* probably null Het
Ttll5 A G 12: 85,926,160 (GRCm39) E318G probably damaging Het
Vmn2r90 T A 17: 17,932,351 (GRCm39) I86N probably damaging Het
Zdhhc19 T C 16: 32,325,176 (GRCm39) S165P possibly damaging Het
Zfp352 A T 4: 90,113,437 (GRCm39) T526S probably benign Het
Other mutations in Mrpl15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Mrpl15 APN 1 4,846,754 (GRCm39) missense probably damaging 1.00
IGL02307:Mrpl15 APN 1 4,854,176 (GRCm39) missense possibly damaging 0.82
IGL02390:Mrpl15 APN 1 4,855,837 (GRCm39) missense probably benign 0.01
IGL03054:Mrpl15 UTSW 1 4,855,794 (GRCm39) critical splice donor site probably null
R0730:Mrpl15 UTSW 1 4,847,834 (GRCm39) missense probably damaging 1.00
R1938:Mrpl15 UTSW 1 4,847,805 (GRCm39) missense probably damaging 0.99
R4855:Mrpl15 UTSW 1 4,844,683 (GRCm39) missense probably benign 0.05
R5025:Mrpl15 UTSW 1 4,854,368 (GRCm39) intron probably benign
R5951:Mrpl15 UTSW 1 4,855,956 (GRCm39) utr 5 prime probably benign
R6723:Mrpl15 UTSW 1 4,852,789 (GRCm39) critical splice donor site probably null
R6988:Mrpl15 UTSW 1 4,852,883 (GRCm39) missense probably benign 0.10
R7057:Mrpl15 UTSW 1 4,846,865 (GRCm39) missense probably benign
R7236:Mrpl15 UTSW 1 4,846,711 (GRCm39) missense probably benign
R7573:Mrpl15 UTSW 1 4,847,778 (GRCm39) missense probably damaging 0.98
R7934:Mrpl15 UTSW 1 4,844,725 (GRCm39) missense probably benign
R8830:Mrpl15 UTSW 1 4,852,807 (GRCm39) missense probably damaging 1.00
R9287:Mrpl15 UTSW 1 4,846,856 (GRCm39) missense probably damaging 1.00
R9531:Mrpl15 UTSW 1 4,847,757 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AAATCTGCCTCGGATCCTTC -3'
(R):5'- ATGTGAAAGCCCCTCCATGAC -3'

Sequencing Primer
(F):5'- ATCCTTCCGAGCGCTGAG -3'
(R):5'- GCCCGTTTAACTACAAAGTTCTTGG -3'
Posted On 2018-09-12