Incidental Mutation 'R7236:Mrpl15'
ID 562798
Institutional Source Beutler Lab
Gene Symbol Mrpl15
Ensembl Gene ENSMUSG00000033845
Gene Name mitochondrial ribosomal protein L15
Synonyms HSPC145, MRP-L7, Rpml7
MMRRC Submission 045306-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R7236 (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 T at 4846711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 288 (N288K)
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: N288K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115512
Gene: ENSMUSG00000033845
AA Change: N288K

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 44 175 5e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,921,644 (GRCm39) V179I probably benign Het
Adra1b A G 11: 43,667,151 (GRCm39) I362T possibly damaging Het
B3galnt1 T C 3: 69,482,950 (GRCm39) K104E probably benign Het
Bnc2 T C 4: 84,474,101 (GRCm39) Y15C probably benign Het
C2cd2l C A 9: 44,228,960 (GRCm39) A124S possibly damaging Het
Camsap3 T A 8: 3,654,116 (GRCm39) F595L probably damaging Het
Cct2 A T 10: 116,897,464 (GRCm39) D93E probably benign Het
Cd200l2 A T 16: 45,348,030 (GRCm39) I169N possibly damaging Het
Cemip A T 7: 83,598,012 (GRCm39) probably null Het
Ciapin1 T C 8: 95,550,338 (GRCm39) T34A Het
Dop1a G A 9: 86,397,431 (GRCm39) V912I probably damaging Het
Efcab3 A T 11: 104,790,093 (GRCm39) Q2832L probably benign Het
Eif3c T C 7: 126,151,495 (GRCm39) T610A possibly damaging Het
Ephb3 A G 16: 21,033,231 (GRCm39) R106G probably damaging Het
Ephx3 T A 17: 32,404,328 (GRCm39) probably null Het
Etv2 A T 7: 30,334,455 (GRCm39) S93T probably benign Het
Fbxo34 T A 14: 47,767,841 (GRCm39) D451E probably benign Het
Fmo9 A G 1: 166,504,140 (GRCm39) F141L probably damaging Het
Fryl T C 5: 73,265,821 (GRCm39) K500R possibly damaging Het
Gfra3 T C 18: 34,828,884 (GRCm39) D170G probably damaging Het
Gnptg T C 17: 25,458,897 (GRCm39) N34S possibly damaging Het
Golga5 T A 12: 102,441,034 (GRCm39) probably null Het
Herc2 G T 7: 55,734,828 (GRCm39) L139F probably benign Het
Ikzf2 T A 1: 69,578,240 (GRCm39) N423I probably benign Het
Il31ra A T 13: 112,660,439 (GRCm39) *717R probably null Het
Itga2 G T 13: 115,014,227 (GRCm39) Q234K probably benign Het
Kcnt1 A T 2: 25,799,951 (GRCm39) probably null Het
Kif19b G T 5: 140,457,400 (GRCm39) A390S probably benign Het
Man2a2 T C 7: 80,018,653 (GRCm39) S69G probably damaging Het
Mccc1 A G 3: 36,037,944 (GRCm39) V294A probably benign Het
Mphosph8 T A 14: 56,911,754 (GRCm39) I259K possibly damaging Het
Msantd2 T C 9: 37,400,965 (GRCm39) W116R probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mtmr10 T C 7: 63,963,932 (GRCm39) probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Nhsl1 A G 10: 18,401,512 (GRCm39) K879E probably damaging Het
Or8j3c A T 2: 86,253,533 (GRCm39) C162* probably null Het
Pak6 A G 2: 118,523,909 (GRCm39) T355A probably benign Het
Patj C T 4: 98,299,294 (GRCm39) R139C probably damaging Het
Pcdhb3 C T 18: 37,434,505 (GRCm39) A157V probably damaging Het
Phkg1 C A 5: 129,895,802 (GRCm39) D150Y probably damaging Het
Ppp2r5c C T 12: 110,432,323 (GRCm39) S45L probably benign Het
Prl4a1 A C 13: 28,202,556 (GRCm39) T44P probably benign Het
Ptpro G A 6: 137,345,335 (GRCm39) V114M probably damaging Het
Pwp1 A G 10: 85,715,147 (GRCm39) N211S probably benign Het
Ralgapb A G 2: 158,282,747 (GRCm39) D504G probably benign Het
Rock2 A T 12: 16,979,003 (GRCm39) I98F probably damaging Het
Senp6 G T 9: 80,040,247 (GRCm39) V785L probably damaging Het
Simc1 A G 13: 54,672,609 (GRCm39) D319G probably benign Het
Tas2r105 A T 6: 131,663,723 (GRCm39) I235N probably damaging Het
Tas2r110 A T 6: 132,845,667 (GRCm39) M233L possibly damaging Het
Tmem260 C T 14: 48,746,647 (GRCm39) probably null Het
Trank1 G T 9: 111,202,142 (GRCm39) V1590L possibly damaging Het
Tsc2 A T 17: 24,842,568 (GRCm39) M286K possibly damaging Het
Ttn T C 2: 76,697,796 (GRCm39) T202A Het
Ttyh1 A G 7: 4,136,663 (GRCm39) N424D probably benign Het
Usp24 T A 4: 106,263,502 (GRCm39) probably null Het
Utp20 G T 10: 88,585,204 (GRCm39) P2620Q probably benign Het
Vmn1r45 A G 6: 89,910,133 (GRCm39) M279T probably benign Het
Vmn2r115 T A 17: 23,578,576 (GRCm39) I683K probably benign Het
Vmn2r34 T C 7: 7,684,750 (GRCm39) K481E probably damaging Het
Vmn2r54 T A 7: 12,365,917 (GRCm39) H339L possibly damaging Het
Vmn2r94 T A 17: 18,477,811 (GRCm39) N200I possibly damaging Het
Wdfy3 A G 5: 101,984,074 (GRCm39) Y3493H probably damaging Het
Wdr5b A G 16: 35,862,208 (GRCm39) D109G possibly damaging Het
Zfp286 A T 11: 62,674,496 (GRCm39) probably null 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
R6802:Mrpl15 UTSW 1 4,846,953 (GRCm39) missense probably benign 0.03
R6988:Mrpl15 UTSW 1 4,852,883 (GRCm39) missense probably benign 0.10
R7057:Mrpl15 UTSW 1 4,846,865 (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'- TCTAAAGCCTGCCACTGTTCAG -3'
(R):5'- CAAGACTTGAACTCGCCATG -3'

Sequencing Primer
(F):5'- TCAAAGGCTCAGTCGCTC -3'
(R):5'- GACTTGAACTCGCCATGAAGTTTG -3'
Posted On 2019-06-26