Incidental Mutation 'R0070:Rpl5'
ID 201456
Institutional Source Beutler Lab
Gene Symbol Rpl5
Ensembl Gene ENSMUSG00000058558
Gene Name ribosomal protein L5
Synonyms U21RNA, Skax23, Ska23, Ska
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R0070 (G1)
Quality Score 78
Status Validated
Chromosome 5
Chromosomal Location 108048388-108056871 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108049766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 12 (Y12H)
Ref Sequence ENSEMBL: ENSMUSP00000080854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082223] [ENSMUST00000153590]
AlphaFold P47962
Predicted Effect probably benign
Transcript: ENSMUST00000082223
AA Change: Y12H

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080854
Gene: ENSMUSG00000058558
AA Change: Y12H

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: ENSMUST00000123183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151767
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
Meta Mutation Damage Score 0.2149 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (68/70)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Alpi A G 1: 87,028,881 (GRCm39) probably benign Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Cmip T A 8: 118,153,293 (GRCm39) I270N probably damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah9 A G 11: 66,050,866 (GRCm39) V142A probably benign Het
Dnai4 A T 4: 102,917,131 (GRCm39) I571K probably damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm10238 A G 15: 75,109,434 (GRCm39) noncoding transcript Het
Gm4787 T A 12: 81,425,840 (GRCm39) D106V probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Ifna11 A G 4: 88,738,512 (GRCm39) D106G possibly damaging Het
Igkv1-115 G A 6: 68,138,402 (GRCm39) V2I probably benign Het
Itga6 T C 2: 71,657,060 (GRCm39) probably benign Het
Kcnj6 C A 16: 94,742,056 (GRCm39) K5N probably benign Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,380 (GRCm39) probably null Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Orm3 A G 4: 63,274,883 (GRCm39) T64A probably benign Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Phldb1 C T 9: 44,619,201 (GRCm39) R844H probably damaging Het
Piezo2 T C 18: 63,235,155 (GRCm39) D814G probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pth1r A T 9: 110,556,618 (GRCm39) probably null Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Rnf32 A G 5: 29,430,125 (GRCm39) T315A probably benign Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sf3a3 G A 4: 124,608,748 (GRCm39) V21I probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slitrk1 T C 14: 109,150,749 (GRCm39) probably benign Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Sprr3 C T 3: 92,364,609 (GRCm39) M78I probably benign Het
Ssmem1 A G 6: 30,519,420 (GRCm39) E35G possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Ttn T C 2: 76,644,771 (GRCm39) probably null Het
Tusc3 G A 8: 39,530,421 (GRCm39) G129R possibly damaging Het
Uspl1 A G 5: 149,146,515 (GRCm39) Y422C probably damaging Het
Vmn2r88 A T 14: 51,651,597 (GRCm39) T312S probably benign Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zfp947 T A 17: 22,365,165 (GRCm39) T170S probably benign 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
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
R4503: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'- TCGGCGCTCAGAAACTACCAAATG -3'
(R):5'- GCAAAGCCAGGATTTCCAAACCTTC -3'

Sequencing Primer
(F):5'- CTACCAAATGCTAGGTCATGTTG -3'
(R):5'- CTCCCAAAAGTTAGAGTTGATGCG -3'
Posted On 2014-06-10