Incidental Mutation 'R2474:Rps5'
ID 253269
Institutional Source Beutler Lab
Gene Symbol Rps5
Ensembl Gene ENSMUSG00000012848
Gene Name ribosomal protein S5
Synonyms S5 ribosomal protein
MMRRC Submission 040405-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R2474 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12656223-12660613 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 12660488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004554] [ENSMUST00000045870] [ENSMUST00000108539] [ENSMUST00000137329] [ENSMUST00000147435]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000004554
SMART Domains Protein: ENSMUSP00000004554
Gene: ENSMUSG00000012848

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 49 204 3.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045870
SMART Domains Protein: ENSMUSP00000042816
Gene: ENSMUSG00000033967

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
RING 63 110 2.91e-6 SMART
low complexity region 150 170 N/A INTRINSIC
low complexity region 175 196 N/A INTRINSIC
transmembrane domain 202 224 N/A INTRINSIC
low complexity region 266 278 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083072
Predicted Effect probably null
Transcript: ENSMUST00000108539
SMART Domains Protein: ENSMUSP00000104179
Gene: ENSMUSG00000012848

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 51 204 1.8e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131795
Predicted Effect probably null
Transcript: ENSMUST00000137329
SMART Domains Protein: ENSMUSP00000121961
Gene: ENSMUSG00000012848

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 49 182 1.2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139349
Predicted Effect probably benign
Transcript: ENSMUST00000147435
SMART Domains Protein: ENSMUSP00000118798
Gene: ENSMUSG00000012848

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 49 182 1.2e-34 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
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 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. 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. 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,248,361 (GRCm39) T678A probably benign Het
Asb7 A T 7: 66,328,901 (GRCm39) N46K probably damaging Het
Atxn7l2 A C 3: 108,111,293 (GRCm39) S414R probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cxcl13 C T 5: 96,107,816 (GRCm39) Q91* probably null Het
Dchs1 T C 7: 105,404,281 (GRCm39) N2754D probably benign Het
Dchs1 A T 7: 105,422,045 (GRCm39) V125E probably damaging Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
Greb1 T C 12: 16,764,954 (GRCm39) N393S possibly damaging Het
Hfm1 A T 5: 107,020,282 (GRCm39) V1048D possibly damaging Het
Ilvbl T C 10: 78,412,558 (GRCm39) V93A probably damaging Het
Itpkb A G 1: 180,161,716 (GRCm39) D614G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lgi3 G A 14: 70,770,689 (GRCm39) probably null Het
Mpeg1 G A 19: 12,439,613 (GRCm39) C357Y probably damaging Het
Nedd1 A G 10: 92,555,465 (GRCm39) F7L probably damaging Het
Or8g26 A G 9: 39,095,846 (GRCm39) D121G probably damaging Het
Or8k35 C A 2: 86,424,957 (GRCm39) V72F probably benign Het
Parp8 A T 13: 117,029,577 (GRCm39) C510S possibly damaging Het
Phb1 T C 11: 95,562,248 (GRCm39) F42L possibly damaging Het
Pik3r1 A T 13: 101,839,284 (GRCm39) Y189* probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp3 T A 11: 69,564,923 (GRCm39) N516Y probably damaging Het
Tfap2b A T 1: 19,284,599 (GRCm39) H169L possibly damaging Het
Tmem260 A G 14: 48,733,781 (GRCm39) D226G probably null Het
Ttc6 G T 12: 57,622,713 (GRCm39) R37S probably benign Het
Vmn2r84 A T 10: 130,222,392 (GRCm39) D609E possibly damaging Het
Vmn2r99 A T 17: 19,598,891 (GRCm39) M192L probably benign Het
Zfp746 T C 6: 48,041,703 (GRCm39) D341G probably damaging Het
Zfp941 A T 7: 140,391,384 (GRCm39) H658Q probably damaging Het
Zw10 T A 9: 48,978,105 (GRCm39) I351N probably damaging Het
Other mutations in Rps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0585:Rps5 UTSW 7 12,659,332 (GRCm39) missense possibly damaging 0.93
R5750:Rps5 UTSW 7 12,659,334 (GRCm39) missense probably damaging 1.00
R5861:Rps5 UTSW 7 12,659,501 (GRCm39) missense probably damaging 0.96
R6905:Rps5 UTSW 7 12,659,785 (GRCm39) missense probably damaging 0.98
R7443:Rps5 UTSW 7 12,656,922 (GRCm39) missense probably benign
R8955:Rps5 UTSW 7 12,659,440 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CTGTCTTGTCTAGGCCATCTGG -3'
(R):5'- TTTACTGGTGAATGCCATGCC -3'

Sequencing Primer
(F):5'- ATCTGGCTGCTGTGCACAG -3'
(R):5'- GCATCCTCTATACCATGGGAGGTAC -3'
Posted On 2014-12-04