Incidental Mutation 'R4503:Rpl5'
ID 331895
Institutional Source Beutler Lab
Gene Symbol Rpl5
Ensembl Gene ENSMUSG00000058558
Gene Name ribosomal protein L5
Synonyms U21RNA, Skax23, Ska23, Ska
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R4503 (G1)
Quality Score 219
Status Not validated
Chromosome 5
Chromosomal Location 108048388-108056871 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108052723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 223 (F223S)
Ref Sequence ENSEMBL: ENSMUSP00000080854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000153590] [ENSMUST00000145239]
AlphaFold P47962
Predicted Effect probably benign
Transcript: ENSMUST00000031198
SMART Domains Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270

DomainStartEndE-ValueType
PIP49_N 19 177 1.7e-92 SMART
Pfam:PIP49_C 194 396 1.9e-69 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000082223
AA Change: F223S

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080854
Gene: ENSMUSG00000058558
AA Change: F223S

DomainStartEndE-ValueType
low complexity region 19 24 N/A INTRINSIC
Pfam:Ribosomal_L18p 26 173 2.1e-46 PFAM
Pfam:Ribosomal_L18_c 192 283 2.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140659
Predicted Effect probably benign
Transcript: ENSMUST00000153590
SMART Domains Protein: ENSMUSP00000123474
Gene: ENSMUSG00000058558

DomainStartEndE-ValueType
Pfam:Ribosomal_L18p 1 123 6.3e-37 PFAM
Pfam:Ribosomal_L18_c 142 163 2.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145239
SMART Domains Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270

DomainStartEndE-ValueType
PIP49_N 1 132 1.18e-45 SMART
Pfam:PIP49_C 149 284 2e-43 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,672 (GRCm39) L30P probably benign Het
Adamts20 T C 15: 94,277,631 (GRCm39) H277R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp13a5 G T 16: 29,112,346 (GRCm39) N598K probably benign Het
Ccdc171 A G 4: 83,782,560 (GRCm39) E1284G probably damaging Het
Cdk5 G A 5: 24,624,617 (GRCm39) T258M possibly damaging Het
Col3a1 T C 1: 45,387,837 (GRCm39) probably benign Het
Coro6 A G 11: 77,360,272 (GRCm39) E414G probably benign Het
Dst T C 1: 34,301,334 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
H2bc18 A T 3: 96,177,240 (GRCm39) K58M possibly damaging Het
Kank4 G A 4: 98,665,335 (GRCm39) S653L possibly damaging Het
Mapkbp1 T C 2: 119,846,187 (GRCm39) I451T probably damaging Het
Ncf2 A G 1: 152,709,529 (GRCm39) E342G probably benign Het
Or5k15 T C 16: 58,710,539 (GRCm39) I15V probably benign Het
Or6aa1 T A 7: 86,044,485 (GRCm39) T74S possibly damaging Het
Pds5b T C 5: 150,652,399 (GRCm39) L222P probably damaging Het
Sacs A G 14: 61,445,052 (GRCm39) N2366S probably damaging Het
Sall2 T C 14: 52,550,916 (GRCm39) M758V probably benign Het
Sh3tc2 A G 18: 62,107,694 (GRCm39) E235G probably damaging Het
Slc49a4 T C 16: 35,539,787 (GRCm39) M345V probably benign Het
Smad2 T A 18: 76,435,663 (GRCm39) S419T probably benign Het
Sprr3 T C 3: 92,364,683 (GRCm39) I54V possibly damaging Het
Tbck A G 3: 132,456,981 (GRCm39) T632A probably benign Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Tmem178 C T 17: 81,293,693 (GRCm39) T162I probably benign Het
Zfp619 A G 7: 39,186,280 (GRCm39) H770R probably damaging Het
Zfp938 A G 10: 82,062,105 (GRCm39) S172P possibly damaging Het
Other mutations in Rpl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Rpl5 APN 5 108,055,145 (GRCm39) critical splice donor site probably null
IGL01694:Rpl5 APN 5 108,055,106 (GRCm39) missense probably benign 0.00
PIT4142001:Rpl5 UTSW 5 108,055,049 (GRCm39) unclassified probably benign
R0070:Rpl5 UTSW 5 108,049,766 (GRCm39) missense probably benign 0.13
R0153:Rpl5 UTSW 5 108,052,623 (GRCm39) missense probably benign 0.00
R3877:Rpl5 UTSW 5 108,051,667 (GRCm39) missense probably benign 0.14
R4502:Rpl5 UTSW 5 108,052,723 (GRCm39) missense possibly damaging 0.92
R5654:Rpl5 UTSW 5 108,051,514 (GRCm39) intron probably benign
R6955:Rpl5 UTSW 5 108,049,912 (GRCm39) missense probably benign 0.01
R9536:Rpl5 UTSW 5 108,051,721 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTCCTGAAGTGAATTCCTGGGAG -3'
(R):5'- TTCCCGCCTGACCAATATAC -3'

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