Incidental Mutation 'R8250:Mrpl47'
ID 640272
Institutional Source Beutler Lab
Gene Symbol Mrpl47
Ensembl Gene ENSMUSG00000037531
Gene Name mitochondrial ribosomal protein L47
Synonyms 4833424P18Rik, CGI-204, NCM1
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32781646-32790904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32785382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 112 (N112S)
Ref Sequence ENSEMBL: ENSMUSP00000048078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000043966]
AlphaFold Q8K2Y7
Predicted Effect probably benign
Transcript: ENSMUST00000029214
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671

DomainStartEndE-ValueType
ACTIN 11 429 1.37e-189 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043966
AA Change: N112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048078
Gene: ENSMUSG00000037531
AA Change: N112S

DomainStartEndE-ValueType
Pfam:MRP-L47 66 151 4.6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193231
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: 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. This gene is immediately adjacent to the gene for BRG1/brm-associated factor 53A (also known as BAF complex 53 kDa subunit protein A in humans) in a tail-to-tail orientation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gabrg2 C T 11: 41,858,379 (GRCm39) V250I probably benign Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Lhfpl6 T C 3: 52,950,759 (GRCm39) I11T probably benign Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Nuggc A G 14: 65,879,318 (GRCm39) I693V probably benign Het
Oip5 A G 2: 119,446,110 (GRCm39) S133P probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or52l1 T C 7: 104,830,518 (GRCm39) M16V Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Snrpn T A 7: 59,636,633 (GRCm39) probably null Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging Het
Other mutations in Mrpl47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:Mrpl47 APN 3 32,790,789 (GRCm39) critical splice donor site probably null
R0555:Mrpl47 UTSW 3 32,790,842 (GRCm39) missense probably benign
R0885:Mrpl47 UTSW 3 32,784,335 (GRCm39) missense probably damaging 0.98
R1754:Mrpl47 UTSW 3 32,784,233 (GRCm39) missense probably benign 0.01
R4466:Mrpl47 UTSW 3 32,784,240 (GRCm39) nonsense probably null
R4751:Mrpl47 UTSW 3 32,782,590 (GRCm39) missense probably benign
R5116:Mrpl47 UTSW 3 32,787,750 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTGACAAAAGGCTCGCATG -3'
(R):5'- TGCTGTTATGACCCTCTGGC -3'

Sequencing Primer
(F):5'- AAGGCTCGCATGTGGGACTG -3'
(R):5'- TCTGGCACTCCACACAGG -3'
Posted On 2020-07-28