Incidental Mutation 'R6192:Mrps5'
ID 502622
Institutional Source Beutler Lab
Gene Symbol Mrps5
Ensembl Gene ENSMUSG00000027374
Gene Name mitochondrial ribosomal protein S5
Synonyms
MMRRC Submission 044332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6192 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127429346-127445906 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127443305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 294 (H294Q)
Ref Sequence ENSEMBL: ENSMUSP00000028852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028852]
AlphaFold Q99N87
Predicted Effect probably damaging
Transcript: ENSMUST00000028852
AA Change: H294Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: H294Q

DomainStartEndE-ValueType
low complexity region 108 126 N/A INTRINSIC
Pfam:Ribosomal_S5 220 285 3.5e-20 PFAM
Pfam:Ribosomal_S5_C 297 368 4.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145271
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,774,002 (GRCm39) E1137G probably damaging Het
Adcy9 T C 16: 4,105,818 (GRCm39) I1099V probably benign Het
Angptl4 A T 17: 33,996,015 (GRCm39) N320K probably benign Het
Atp6v0a2 G A 5: 124,767,268 (GRCm39) M10I probably benign Het
Bltp1 C T 3: 37,042,318 (GRCm39) T2768I probably benign Het
Cbfa2t3 A G 8: 123,361,135 (GRCm39) S395P probably benign Het
Cenpe C T 3: 134,954,291 (GRCm39) T1716I possibly damaging Het
Chsy1 T C 7: 65,820,625 (GRCm39) Y287H probably benign Het
Col4a4 G T 1: 82,462,151 (GRCm39) P1075T probably damaging Het
Cryab T A 9: 50,665,813 (GRCm39) M68K probably damaging Het
Cybrd1 T A 2: 70,967,858 (GRCm39) L143Q probably null Het
Dcaf7 T C 11: 105,942,584 (GRCm39) V177A probably damaging Het
Dclk2 T C 3: 86,722,457 (GRCm39) Y392C probably damaging Het
Ddx20 T C 3: 105,586,036 (GRCm39) T770A probably benign Het
Dennd1b T A 1: 139,095,456 (GRCm39) D501E probably benign Het
Dgkh A T 14: 78,865,504 (GRCm39) Y26* probably null Het
Dnajc2 A G 5: 21,973,646 (GRCm39) V196A probably damaging Het
Etl4 A G 2: 20,806,362 (GRCm39) K827E probably damaging Het
Fam8a1 C T 13: 46,823,099 (GRCm39) P13L probably damaging Het
Gfra3 T C 18: 34,837,582 (GRCm39) S139G possibly damaging Het
Ggnbp1 G A 17: 27,248,847 (GRCm39) V139I possibly damaging Het
Gja1 T A 10: 56,264,330 (GRCm39) Y230N probably damaging Het
Gldc A G 19: 30,111,172 (GRCm39) S535P probably damaging Het
Gm45871 A G 18: 90,610,357 (GRCm39) T532A probably benign Het
Gm5431 T A 11: 48,785,220 (GRCm39) D107V probably benign Het
Herc2 C T 7: 55,857,510 (GRCm39) T4031M probably damaging Het
Iffo2 G A 4: 139,333,769 (GRCm39) A282T probably damaging Het
Ifi44 T G 3: 151,451,276 (GRCm39) probably null Het
Igkv4-53 C T 6: 69,625,915 (GRCm39) R62H possibly damaging Het
Lrp11 A C 10: 7,474,454 (GRCm39) probably null Het
Lrp4 A G 2: 91,338,833 (GRCm39) T1755A probably benign Het
Mcm3ap A T 10: 76,336,934 (GRCm39) K1316M probably damaging Het
Mctp1 T G 13: 76,971,082 (GRCm39) probably null Het
Mroh5 A T 15: 73,662,630 (GRCm39) I396N probably damaging Het
Muc16 A T 9: 18,569,985 (GRCm39) S845T unknown Het
Mycbpap A T 11: 94,398,557 (GRCm39) V474E probably damaging Het
Mzt2 G C 16: 15,666,551 (GRCm39) S122W probably benign Het
Neb T C 2: 52,146,802 (GRCm39) I2821V probably benign Het
Ngef A T 1: 87,415,622 (GRCm39) D347E probably damaging Het
Nlrp14 T C 7: 106,781,646 (GRCm39) V281A probably benign Het
Obscn A T 11: 58,888,864 (GRCm39) Y7597N unknown Het
Or4k47 T C 2: 111,451,520 (GRCm39) R300G possibly damaging Het
Patj G T 4: 98,344,394 (GRCm39) G569W probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Phf2 T A 13: 48,973,583 (GRCm39) T361S unknown Het
Pik3r6 A G 11: 68,434,455 (GRCm39) E552G probably damaging Het
Pitx2 A G 3: 129,009,521 (GRCm39) T147A probably benign Het
Pkmyt1 G A 17: 23,953,167 (GRCm39) G241D probably damaging Het
Pola2 A T 19: 6,003,802 (GRCm39) V191D possibly damaging Het
Ralgapb T A 2: 158,291,367 (GRCm39) probably null Het
Rapgef4 T C 2: 71,811,661 (GRCm39) S11P probably benign Het
Rnf10 G A 5: 115,395,136 (GRCm39) R151C probably damaging Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sbno2 A T 10: 79,895,850 (GRCm39) L977Q probably damaging Het
Sec14l3 G A 11: 4,025,566 (GRCm39) probably null Het
Serping1 A T 2: 84,600,612 (GRCm39) N243K possibly damaging Het
Slco2b1 T A 7: 99,334,779 (GRCm39) I231F probably damaging Het
Spag8 A G 4: 43,652,458 (GRCm39) F294S probably damaging Het
Speer4f1 G A 5: 17,684,493 (GRCm39) A174T probably damaging Het
Spred3 T C 7: 28,862,402 (GRCm39) D147G probably benign Het
Stard9 A G 2: 120,527,241 (GRCm39) D1166G probably damaging Het
Svep1 G T 4: 58,104,536 (GRCm39) T1229K possibly damaging Het
Tanc1 T A 2: 59,669,305 (GRCm39) probably null Het
Tmem232 T C 17: 65,737,800 (GRCm39) Y420C probably damaging Het
Tubd1 A T 11: 86,448,619 (GRCm39) M311L probably benign Het
Tulp3 G A 6: 128,332,703 (GRCm39) probably null Het
Usp42 T C 5: 143,702,942 (GRCm39) T560A possibly damaging Het
Vmn1r170 A T 7: 23,305,934 (GRCm39) Y112F probably damaging Het
Vmn2r4 A T 3: 64,322,699 (GRCm39) C7S probably benign Het
Wrn A G 8: 33,774,682 (GRCm39) M652T probably benign Het
Wsb1 G A 11: 79,139,336 (GRCm39) P120L possibly damaging Het
Zfp142 T C 1: 74,609,667 (GRCm39) E1376G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Mrps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Mrps5 APN 2 127,433,827 (GRCm39) missense probably null 0.01
IGL03348:Mrps5 APN 2 127,443,305 (GRCm39) missense probably damaging 0.98
R0369:Mrps5 UTSW 2 127,433,749 (GRCm39) missense probably benign 0.09
R0485:Mrps5 UTSW 2 127,433,745 (GRCm39) missense possibly damaging 0.56
R0622:Mrps5 UTSW 2 127,436,451 (GRCm39) missense probably benign 0.00
R1954:Mrps5 UTSW 2 127,438,817 (GRCm39) splice site probably null
R2182:Mrps5 UTSW 2 127,444,407 (GRCm39) missense probably damaging 1.00
R3414:Mrps5 UTSW 2 127,438,832 (GRCm39) missense probably benign 0.38
R4007:Mrps5 UTSW 2 127,433,755 (GRCm39) missense possibly damaging 0.81
R4687:Mrps5 UTSW 2 127,432,690 (GRCm39) missense probably benign 0.44
R4780:Mrps5 UTSW 2 127,440,161 (GRCm39) missense probably benign 0.00
R4835:Mrps5 UTSW 2 127,445,627 (GRCm39) missense possibly damaging 0.84
R4851:Mrps5 UTSW 2 127,432,665 (GRCm39) missense probably benign 0.00
R5076:Mrps5 UTSW 2 127,442,772 (GRCm39) nonsense probably null
R5558:Mrps5 UTSW 2 127,444,355 (GRCm39) missense probably damaging 1.00
R7038:Mrps5 UTSW 2 127,442,786 (GRCm39) missense probably damaging 1.00
R7071:Mrps5 UTSW 2 127,442,772 (GRCm39) nonsense probably null
R7103:Mrps5 UTSW 2 127,443,330 (GRCm39) missense probably damaging 0.99
R7177:Mrps5 UTSW 2 127,437,617 (GRCm39) missense probably benign
R7319:Mrps5 UTSW 2 127,437,762 (GRCm39) missense possibly damaging 0.94
R7387:Mrps5 UTSW 2 127,442,804 (GRCm39) missense probably damaging 1.00
R7460:Mrps5 UTSW 2 127,433,811 (GRCm39) missense not run
R8211:Mrps5 UTSW 2 127,445,644 (GRCm39) missense probably benign
R9052:Mrps5 UTSW 2 127,433,876 (GRCm39) splice site probably benign
R9358:Mrps5 UTSW 2 127,437,734 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- CTGCAGACTGTGTCACAAGATG -3'
(R):5'- GTGGTTATACTGCCAGCTCC -3'

Sequencing Primer
(F):5'- CAGACTGTGTCACAAGATGTTTTTG -3'
(R):5'- GCCAGCTCCGTCAACTTGAC -3'
Posted On 2018-02-27