Incidental Mutation 'R8830:Mrpl15'
ID 673723
Institutional Source Beutler Lab
Gene Symbol Mrpl15
Ensembl Gene ENSMUSG00000033845
Gene Name mitochondrial ribosomal protein L15
Synonyms MRP-L7, HSPC145, Rpml7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock # R8830 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 4773206-4785739 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4782584 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 137 (V137D)
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 damaging
Transcript: ENSMUST00000130201
AA Change: V137D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114649
Gene: ENSMUSG00000033845
AA Change: V137D

Pfam:Ribosomal_L18e 42 176 4.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146665
AA Change: V137D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141204
Gene: ENSMUSG00000033845
AA Change: V137D

Pfam:Ribosomal_L18e 42 126 6.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156816
AA Change: V137D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115512
Gene: ENSMUSG00000033845
AA Change: V137D

Pfam:Ribosomal_L18e 44 175 5e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaed1 G A 13: 64,297,300 Q170* probably null Het
Abca7 T A 10: 80,008,971 V1509E probably damaging Het
Abraxas2 A G 7: 132,883,356 D376G probably damaging Het
Agbl1 A G 7: 76,335,311 T159A Het
Ahnak2 G A 12: 112,787,036 R89W Het
Arhgef40 A C 14: 52,003,708 D1396A probably damaging Het
Atp13a5 A T 16: 29,248,176 F1060I probably damaging Het
Atp6v1c1 T A 15: 38,677,545 F105I probably damaging Het
Atp9b C T 18: 80,765,800 E635K Het
BC017643 C T 11: 121,228,723 probably benign Het
Brix1 T A 15: 10,479,596 Q124L possibly damaging Het
Cep68 A G 11: 20,230,418 probably benign Het
Cfap46 A G 7: 139,615,649 S2208P unknown Het
Crisp1 T A 17: 40,294,419 K234* probably null Het
Cryzl1 C T 16: 91,712,204 V70I probably benign Het
Dnah7b T C 1: 46,191,793 Y1404H probably damaging Het
Dot1l A G 10: 80,771,199 H109R possibly damaging Het
E330034G19Rik A C 14: 24,309,508 H329P unknown Het
Erbb4 A T 1: 68,075,468 L939Q probably damaging Het
Fst A T 13: 114,455,828 C118S probably damaging Het
Gfra3 A G 18: 34,711,136 V117A possibly damaging Het
Gldc C G 19: 30,100,812 M928I probably benign Het
Gm5538 A T 3: 59,747,323 T193S probably benign Het
Gm996 T G 2: 25,577,250 D883A Het
Greb1 A G 12: 16,688,519 M1481T probably benign Het
Hecw2 G A 1: 53,891,146 R1045C probably damaging Het
Hexb C T 13: 97,194,254 V84I probably benign Het
Hpse T C 5: 100,695,586 E240G probably benign Het
Hspa12a T C 19: 58,805,463 D322G possibly damaging Het
Hspa9 A T 18: 34,948,104 probably null Het
Kif9 A G 9: 110,524,930 K790R probably damaging Het
Klc2 C T 19: 5,110,366 probably null Het
Ldha C G 7: 46,850,278 N144K probably benign Het
Micalcl A G 7: 112,381,196 T126A probably benign Het
Muc16 G A 9: 18,646,069 T2976I unknown Het
Mybpc2 A T 7: 44,512,541 V495D probably damaging Het
Olfr597 A G 7: 103,321,005 K198R Het
Olfr713 A G 7: 107,036,682 N176D probably benign Het
Olfr772 A T 10: 129,174,846 Y58* probably null Het
Pcnt G A 10: 76,382,174 T2089I probably benign Het
Pdzd7 T C 19: 45,033,073 D563G probably damaging Het
Phlpp1 T G 1: 106,350,603 L915R probably damaging Het
Plekhh2 T A 17: 84,521,803 I34N probably damaging Het
Pou6f2 T A 13: 18,378,498 T84S Het
Ptprq A G 10: 107,586,695 V1612A possibly damaging Het
Pvrig T G 5: 138,342,148 probably benign Het
Rasl10b A T 11: 83,412,676 I20F probably damaging Het
Rimbp3 T A 16: 17,209,006 V98E probably damaging Het
Rims2 T C 15: 39,437,362 I355T possibly damaging Het
Slc1a2 A G 2: 102,736,015 H30R probably benign Het
Slc28a1 G A 7: 81,161,046 V389M possibly damaging Het
Slc7a13 T C 4: 19,819,189 S130P probably benign Het
Sp140 TTTTTTTT TTTTTTTTTTTTT 1: 85,644,574 probably benign Het
Spag17 T A 3: 100,125,435 H2320Q possibly damaging Het
Speer4a T C 5: 26,036,795 E111G possibly damaging Het
Ss18l1 T C 2: 180,067,338 Y397H unknown Het
Tbck T C 3: 132,838,057 S890P probably damaging Het
Tcp11 T C 17: 28,080,230 E17G probably benign Het
Tesk2 C T 4: 116,802,287 R315C probably benign Het
Tln1 T C 4: 43,556,383 N45S probably benign Het
Trim10 C T 17: 36,869,954 P26S probably damaging Het
Vmac C A 17: 56,715,573 G146C probably damaging Het
Vmn1r14 G A 6: 57,234,032 M198I probably damaging Het
Vmn1r194 T C 13: 22,244,836 Y208H possibly damaging Het
Vmn1r78 G A 7: 12,153,191 C243Y probably damaging Het
Wasf3 C T 5: 146,466,862 Q261* probably null Het
Ybx2 A G 11: 69,936,237 K88R probably benign Het
Zfhx4 G A 3: 5,398,889 R1394H probably damaging Het
Zfp871 T C 17: 32,774,927 T425A probably benign Het
Zfy2 C T Y: 2,106,600 S678N possibly damaging Het
Zswim4 T C 8: 84,223,316 E650G possibly damaging Het
Other mutations in Mrpl15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Mrpl15 APN 1 4776531 missense probably damaging 1.00
IGL02307:Mrpl15 APN 1 4783953 missense possibly damaging 0.82
IGL02390:Mrpl15 APN 1 4785614 missense probably benign 0.01
IGL03054:Mrpl15 UTSW 1 4785571 critical splice donor site probably null
R0730:Mrpl15 UTSW 1 4777611 missense probably damaging 1.00
R1938:Mrpl15 UTSW 1 4777582 missense probably damaging 0.99
R4855:Mrpl15 UTSW 1 4774460 missense probably benign 0.05
R5025:Mrpl15 UTSW 1 4784145 intron probably benign
R5951:Mrpl15 UTSW 1 4785733 utr 5 prime probably benign
R6723:Mrpl15 UTSW 1 4782566 critical splice donor site probably null
R6802:Mrpl15 UTSW 1 4776730 missense probably benign 0.03
R6988:Mrpl15 UTSW 1 4782660 missense probably benign 0.10
R7057:Mrpl15 UTSW 1 4776642 missense probably benign
R7236:Mrpl15 UTSW 1 4776488 missense probably benign
R7573:Mrpl15 UTSW 1 4777555 missense probably damaging 0.98
R7934:Mrpl15 UTSW 1 4774502 missense probably benign
R9287:Mrpl15 UTSW 1 4776633 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-07-15