Incidental Mutation 'R4466:Mrpl47'
ID 330335
Institutional Source Beutler Lab
Gene Symbol Mrpl47
Ensembl Gene ENSMUSG00000037531
Gene Name mitochondrial ribosomal protein L47
Synonyms 4833424P18Rik, CGI-204, NCM1
MMRRC Submission 041723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4466 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 32781646-32790904 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 32784240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 177 (R177*)
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 null
Transcript: ENSMUST00000043966
AA Change: R177*
SMART Domains Protein: ENSMUSP00000048078
Gene: ENSMUSG00000037531
AA Change: R177*

DomainStartEndE-ValueType
Pfam:MRP-L47 66 151 4.6e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153779
Predicted Effect probably benign
Transcript: ENSMUST00000193231
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A T 3: 59,745,887 (GRCm39) noncoding transcript Het
Adgra1 T A 7: 139,420,752 (GRCm39) probably benign Het
Akap13 T A 7: 75,252,521 (GRCm39) probably null Het
Amn1 T C 6: 149,068,343 (GRCm39) probably null Het
Ano5 T A 7: 51,220,023 (GRCm39) F374I probably damaging Het
Apol7c T C 15: 77,410,664 (GRCm39) E94G probably benign Het
Arid4b A T 13: 14,307,095 (GRCm39) S117C probably damaging Het
Atm C A 9: 53,359,469 (GRCm39) E2778* probably null Het
Cped1 A T 6: 22,123,651 (GRCm39) Q468L probably benign Het
Crygb A G 1: 65,119,645 (GRCm39) S112P probably damaging Het
Eeig2 T A 3: 108,887,124 (GRCm39) R291S probably benign Het
Eml4 C T 17: 83,729,103 (GRCm39) Q93* probably null Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fhad1 A T 4: 141,684,969 (GRCm39) S457T probably damaging Het
Frmd4b A G 6: 97,300,614 (GRCm39) probably null Het
Gm5134 G C 10: 75,844,409 (GRCm39) K588N probably benign Het
Gpr21 A G 2: 37,407,570 (GRCm39) T39A probably benign Het
Irx1 C A 13: 72,108,101 (GRCm39) G194W probably damaging Het
Itgal C T 7: 126,927,684 (GRCm39) T992I possibly damaging Het
Itpr3 T C 17: 27,325,316 (GRCm39) L1303P probably damaging Het
Kdm2a A T 19: 4,370,328 (GRCm39) D1052E probably damaging Het
Klhl6 T C 16: 19,776,018 (GRCm39) D180G probably damaging Het
M6pr A G 6: 122,290,228 (GRCm39) T64A probably benign Het
Mtfr2 A G 10: 20,224,159 (GRCm39) Y31C probably damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Oas2 A G 5: 120,887,667 (GRCm39) S58P probably damaging Het
Or1j11 A T 2: 36,312,308 (GRCm39) R299S probably benign Het
Or5b124 G A 19: 13,610,801 (GRCm39) E109K probably damaging Het
Or8b36 T A 9: 37,937,479 (GRCm39) C126S probably damaging Het
Polr1b A T 2: 128,965,802 (GRCm39) I815L probably benign Het
Psma8 T C 18: 14,854,231 (GRCm39) I37T possibly damaging Het
Ryr3 T C 2: 112,483,447 (GRCm39) E4100G possibly damaging Het
Serpina3g C T 12: 104,204,182 (GRCm39) probably benign Het
Serpina3m A T 12: 104,357,874 (GRCm39) Y266F probably damaging Het
Sez6l2 T A 7: 126,559,023 (GRCm39) D423E probably damaging Het
Sh3gl2 A G 4: 85,299,688 (GRCm39) E224G possibly damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc24a2 A T 4: 87,146,099 (GRCm39) probably benign Het
Smyd2 A G 1: 189,614,349 (GRCm39) M393T probably benign Het
Sox8 C A 17: 25,787,879 (GRCm39) G190V probably benign Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stk35 C A 2: 129,643,436 (GRCm39) T140K probably damaging Het
Taf6 A C 5: 138,179,463 (GRCm39) probably benign Het
Ten1 A C 11: 116,095,823 (GRCm39) probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttn A G 2: 76,544,044 (GRCm39) F32981L probably damaging Het
Zik1 G T 7: 10,224,893 (GRCm39) T68K probably benign Het
Zzef1 T A 11: 72,815,485 (GRCm39) I2935N probably 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
R4751:Mrpl47 UTSW 3 32,782,590 (GRCm39) missense probably benign
R5116:Mrpl47 UTSW 3 32,787,750 (GRCm39) missense probably damaging 0.98
R8250:Mrpl47 UTSW 3 32,785,382 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACACTTTGTCGTTTAGGGGATG -3'
(R):5'- GCTTTGTGGATGCCCTAGAG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CCCTAGAGTTCTTTTGGAATGCAG -3'
Posted On 2015-07-21