Incidental Mutation 'R5861:Rps5'
ID 453906
Institutional Source Beutler Lab
Gene Symbol Rps5
Ensembl Gene ENSMUSG00000012848
Gene Name ribosomal protein S5
Synonyms S5 ribosomal protein
MMRRC Submission 044073-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R5861 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12656223-12660613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12659501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 97 (F97L)
Ref Sequence ENSEMBL: ENSMUSP00000118798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004554] [ENSMUST00000045870] [ENSMUST00000108539] [ENSMUST00000137329] [ENSMUST00000147435]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000004554
AA Change: F97L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000004554
Gene: ENSMUSG00000012848
AA Change: F97L

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 probably damaging
Transcript: ENSMUST00000108539
AA Change: F97L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104179
Gene: ENSMUSG00000012848
AA Change: F97L

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 51 204 1.8e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131795
Predicted Effect probably benign
Transcript: ENSMUST00000137329
AA Change: F97L

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121961
Gene: ENSMUSG00000012848
AA Change: F97L

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 49 182 1.2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139349
Predicted Effect probably damaging
Transcript: ENSMUST00000147435
AA Change: F97L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118798
Gene: ENSMUSG00000012848
AA Change: F97L

DomainStartEndE-ValueType
Pfam:Ribosomal_S7 49 182 1.2e-34 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency 98% (81/83)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,644 (GRCm39) T246N probably damaging Het
Aopep A G 13: 63,446,626 (GRCm39) D143G probably damaging Het
Arhgap10 C T 8: 78,037,393 (GRCm39) A612T probably damaging Het
Arsg T A 11: 109,454,014 (GRCm39) F407I probably damaging Het
Asxl1 C A 2: 153,241,310 (GRCm39) A620D probably damaging Het
C2cd3 A G 7: 100,093,682 (GRCm39) probably benign Het
Chn2 G A 6: 54,267,359 (GRCm39) V92I probably damaging Het
Cog2 T C 8: 125,264,617 (GRCm39) F332S probably damaging Het
Crhbp G A 13: 95,580,333 (GRCm39) A82V probably damaging Het
Cyp2j6 A G 4: 96,434,040 (GRCm39) V90A possibly damaging Het
Dennd4c A T 4: 86,709,589 (GRCm39) M397L probably benign Het
Dnajb8 A G 6: 88,200,088 (GRCm39) D208G possibly damaging Het
Ecm1 G C 3: 95,643,909 (GRCm39) L230V probably damaging Het
Ercc2 G C 7: 19,128,066 (GRCm39) A696P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm13035 A G 4: 146,009,859 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,865,116 (GRCm39) V247A probably damaging Het
Gm28455 T A 7: 39,148,003 (GRCm39) noncoding transcript Het
Gpr150 A T 13: 76,204,192 (GRCm39) V251D possibly damaging Het
Grip1 C T 10: 119,765,875 (GRCm39) S69L probably damaging Het
Hs6st3 A G 14: 119,376,265 (GRCm39) I147V possibly damaging Het
Il5 G A 11: 53,614,743 (GRCm39) E102K probably benign Het
Kif1c T C 11: 70,594,621 (GRCm39) F94L probably damaging Het
Lrrc63 T C 14: 75,344,806 (GRCm39) E427G possibly damaging Het
Man1b1 A G 2: 25,238,066 (GRCm39) T384A probably benign Het
Mapk15 C A 15: 75,868,208 (GRCm39) probably benign Het
Mfsd10 T C 5: 34,791,588 (GRCm39) probably benign Het
Mgat5 C A 1: 127,315,129 (GRCm39) A285E probably damaging Het
Mroh4 T A 15: 74,478,456 (GRCm39) probably benign Het
Myf5 A T 10: 107,320,069 (GRCm39) C194S probably benign Het
Myh7 A G 14: 55,226,347 (GRCm39) V431A possibly damaging Het
Nadsyn1 A C 7: 143,364,964 (GRCm39) M247R possibly damaging Het
Nipsnap3b A G 4: 53,021,177 (GRCm39) D166G probably damaging Het
Nqo2 A T 13: 34,156,413 (GRCm39) L42F probably damaging Het
Nt5dc3 A T 10: 86,651,738 (GRCm39) D180V probably damaging Het
Numa1 C A 7: 101,658,494 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,052 (GRCm39) L328Q probably damaging Het
Or4e1 T C 14: 52,700,953 (GRCm39) Y171C probably damaging Het
Or5w17 A T 2: 87,583,922 (GRCm39) N138K probably benign Het
Or7a37 A T 10: 78,805,765 (GRCm39) Y94F probably damaging Het
Papolb T C 5: 142,514,992 (GRCm39) N217S possibly damaging Het
Pcmtd2 C A 2: 181,484,268 (GRCm39) T26K probably damaging Het
Pld5 T G 1: 175,917,571 (GRCm39) N59H probably damaging Het
Ppm1d T C 11: 85,202,674 (GRCm39) S126P possibly damaging Het
Ppp1r21 T C 17: 88,889,937 (GRCm39) L727P probably damaging Het
Pramel20 G T 4: 143,297,810 (GRCm39) V77L probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rara T A 11: 98,858,987 (GRCm39) C148* probably null Het
Rexo2 A T 9: 48,386,481 (GRCm39) I83N probably damaging Het
Rnf213 A G 11: 119,364,203 (GRCm39) R4501G probably damaging Het
Sigirr G A 7: 140,671,292 (GRCm39) R397W probably damaging Het
Slc6a6 T C 6: 91,718,014 (GRCm39) Y318H probably damaging Het
Spam1 A G 6: 24,796,570 (GRCm39) T174A probably benign Het
Stam2 G T 2: 52,632,116 (GRCm39) probably benign Het
Taar7a T C 10: 23,868,337 (GRCm39) E348G probably benign Het
Taf11 T C 17: 28,120,644 (GRCm39) T209A probably benign Het
Tenm4 A G 7: 96,492,424 (GRCm39) probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Uevld A T 7: 46,576,104 (GRCm39) S461T probably benign Het
Vmn2r6 T A 3: 64,463,454 (GRCm39) N460I probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zfp316 T C 5: 143,249,095 (GRCm39) Y180C unknown Het
Zfp941 A G 7: 140,392,052 (GRCm39) S436P probably damaging Het
Zfp979 G A 4: 147,697,966 (GRCm39) Q248* probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Rps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0585:Rps5 UTSW 7 12,659,332 (GRCm39) missense possibly damaging 0.93
R2474:Rps5 UTSW 7 12,660,488 (GRCm39) splice site probably null
R5750:Rps5 UTSW 7 12,659,334 (GRCm39) missense probably damaging 1.00
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'- TTACCACCCAGGATTACATTGC -3'
(R):5'- GGGGCCACTGTTGATGATAG -3'

Sequencing Primer
(F):5'- CACCCAGGATTACATTGCTGTGAAG -3'
(R):5'- GTTGATGATAGCATTCACCAGGACC -3'
Posted On 2017-02-10