Incidental Mutation 'R4687:Mrps5'
ID 353729
Institutional Source Beutler Lab
Gene Symbol Mrps5
Ensembl Gene ENSMUSG00000027374
Gene Name mitochondrial ribosomal protein S5
Synonyms
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127587222-127606829 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 127590770 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 37 (A37G)
Ref Sequence ENSEMBL: ENSMUSP00000119674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028852] [ENSMUST00000110366] [ENSMUST00000146131]
AlphaFold Q99N87
Predicted Effect probably benign
Transcript: ENSMUST00000028852
AA Change: A45G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: A45G

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 probably benign
Transcript: ENSMUST00000110366
SMART Domains Protein: ENSMUSP00000105995
Gene: ENSMUSG00000034800

DomainStartEndE-ValueType
KRAB 14 74 1.33e-28 SMART
ZnF_C2H2 169 191 1.12e-3 SMART
ZnF_C2H2 197 219 6.42e-4 SMART
ZnF_C2H2 225 247 7.37e-4 SMART
ZnF_C2H2 253 275 9.22e-5 SMART
ZnF_C2H2 281 303 9.73e-4 SMART
ZnF_C2H2 309 331 1.04e-3 SMART
ZnF_C2H2 337 359 5.67e-5 SMART
ZnF_C2H2 365 387 5.99e-4 SMART
ZnF_C2H2 393 413 4.94e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134101
Predicted Effect probably benign
Transcript: ENSMUST00000146131
AA Change: A37G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119674
Gene: ENSMUSG00000027374
AA Change: A37G

DomainStartEndE-ValueType
low complexity region 100 118 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 8,992,153 (GRCm38) Y45N probably damaging Het
Agbl3 T C 6: 34,798,326 (GRCm38) V189A probably damaging Het
Akip1 C A 7: 109,704,986 (GRCm38) S90* probably null Het
Amn A T 12: 111,276,068 (GRCm38) D439V probably benign Het
Arhgap17 T A 7: 123,321,603 (GRCm38) D149V probably damaging Het
Atp6v0a4 A T 6: 38,092,465 (GRCm38) I76N possibly damaging Het
Atp6v1h A T 1: 5,133,085 (GRCm38) N291I probably damaging Het
Baiap2l2 G T 15: 79,259,253 (GRCm38) P462T probably damaging Het
Bves C T 10: 45,354,840 (GRCm38) probably null Het
Cabp7 T A 11: 4,739,265 (GRCm38) K127* probably null Het
Cacna1h A G 17: 25,393,910 (GRCm38) V313A possibly damaging Het
Camkk2 T C 5: 122,753,724 (GRCm38) H245R probably damaging Het
Celsr1 T A 15: 85,932,460 (GRCm38) S1761C possibly damaging Het
Cfap46 T C 7: 139,627,456 (GRCm38) E1849G possibly damaging Het
Ciz1 T C 2: 32,367,465 (GRCm38) L174P probably damaging Het
Crim1 G T 17: 78,303,025 (GRCm38) C303F probably damaging Het
Cyp26c1 A G 19: 37,692,937 (GRCm38) Q396R probably damaging Het
Dnajc7 G A 11: 100,599,300 (GRCm38) P43L probably damaging Het
Dpf2 T C 19: 5,907,012 (GRCm38) H16R probably damaging Het
Dsp A G 13: 38,191,619 (GRCm38) T1127A probably damaging Het
Dst T C 1: 34,201,123 (GRCm38) L1525P probably damaging Het
Ehf T A 2: 103,267,126 (GRCm38) D192V probably damaging Het
Frem1 G T 4: 83,020,631 (GRCm38) N71K probably damaging Het
Furin T A 7: 80,393,447 (GRCm38) T339S probably benign Het
Gad1 T A 2: 70,600,720 (GRCm38) I569N possibly damaging Het
Gfi1 T C 5: 107,723,810 (GRCm38) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm38) noncoding transcript Homo
Gpn3 A C 5: 122,378,575 (GRCm38) D89A possibly damaging Het
Gpr18 T A 14: 121,911,678 (GRCm38) R312* probably null Het
Gsap T C 5: 21,246,971 (GRCm38) probably benign Het
H2-Ab1 C A 17: 34,264,809 (GRCm38) T48K probably damaging Het
Hmcn2 A T 2: 31,438,285 (GRCm38) N4326I probably benign Het
Igkv4-51 A C 6: 69,681,730 (GRCm38) probably benign Het
Insr T C 8: 3,161,709 (GRCm38) H1104R probably benign Het
Ipo13 A T 4: 117,901,576 (GRCm38) N697K probably benign Het
Iqcm T G 8: 75,762,989 (GRCm38) F362V probably damaging Het
Irak4 T C 15: 94,566,823 (GRCm38) S425P probably damaging Het
Jakmip2 T C 18: 43,577,412 (GRCm38) E242G possibly damaging Het
Kdm4a T C 4: 118,144,083 (GRCm38) K829R probably damaging Het
Kdr T C 5: 75,968,792 (GRCm38) N145S possibly damaging Het
Klra9 A T 6: 130,185,517 (GRCm38) D185E probably benign Het
Lcn12 T C 2: 25,493,321 (GRCm38) N15S probably benign Het
Mei4 T A 9: 81,927,317 (GRCm38) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm38) S320T probably benign Het
Mttp A G 3: 138,092,735 (GRCm38) I800T possibly damaging Het
Nags A T 11: 102,148,196 (GRCm38) Q451L probably damaging Het
Nbea T C 3: 56,058,065 (GRCm38) T476A probably damaging Het
Ndufb10 T C 17: 24,722,419 (GRCm38) E145G possibly damaging Het
Neb T G 2: 52,304,035 (GRCm38) S660R possibly damaging Het
Nppb A G 4: 147,986,296 (GRCm38) K43E probably benign Het
Nup188 A T 2: 30,330,633 (GRCm38) Q906L probably benign Het
Or10k2 T A 8: 83,541,860 (GRCm38) S239T probably damaging Het
Or4c12 T C 2: 89,943,869 (GRCm38) D82G probably damaging Het
Or8c17 C A 9: 38,269,414 (GRCm38) N292K probably damaging Het
Or9s23 T C 1: 92,573,330 (GRCm38) I53T possibly damaging Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Palm3 A G 8: 84,029,935 (GRCm38) E692G probably benign Het
Pcsk6 T C 7: 65,983,753 (GRCm38) F578L probably damaging Het
Piezo2 A C 18: 63,069,963 (GRCm38) D1535E probably damaging Het
Ppp1r15b T C 1: 133,132,135 (GRCm38) V130A probably benign Het
Proca1 T C 11: 78,204,898 (GRCm38) Y32H probably damaging Het
Prtg T A 9: 72,890,798 (GRCm38) V682E probably damaging Het
Pyroxd1 A T 6: 142,361,868 (GRCm38) M455L probably benign Het
Rasa1 T C 13: 85,226,635 (GRCm38) D739G possibly damaging Het
Scn3a T C 2: 65,464,730 (GRCm38) I1550V possibly damaging Het
Sepsecs T C 5: 52,643,871 (GRCm38) D483G probably benign Het
Setd7 T C 3: 51,550,355 (GRCm38) D17G probably damaging Het
Sipa1l2 C T 8: 125,491,245 (GRCm38) C451Y probably damaging Het
Slc31a1 A G 4: 62,388,702 (GRCm38) Y165C probably damaging Het
Smg5 T C 3: 88,342,469 (GRCm38) F68L possibly damaging Het
Sptbn5 A G 2: 120,077,208 (GRCm38) probably benign Het
Stk3 A G 15: 35,114,565 (GRCm38) I65T probably damaging Het
Tas2r115 C T 6: 132,737,284 (GRCm38) A235T possibly damaging Het
Tenm2 C T 11: 36,049,097 (GRCm38) A1400T probably benign Het
Tet1 T A 10: 62,838,791 (GRCm38) N1169Y probably benign Het
Treml2 T A 17: 48,309,397 (GRCm38) probably null Het
Tspan11 A G 6: 127,938,235 (GRCm38) E104G probably damaging Het
Wdtc1 G A 4: 133,296,431 (GRCm38) A543V probably damaging Het
Zfp148 T A 16: 33,496,819 (GRCm38) D578E probably damaging Het
Zfp735 A T 11: 73,711,856 (GRCm38) N542I probably damaging Het
Zfp735 A T 11: 73,711,855 (GRCm38) N542Y probably damaging Het
Zfp869 T A 8: 69,708,143 (GRCm38) E65D probably benign Het
Other mutations in Mrps5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Mrps5 APN 2 127,591,907 (GRCm38) missense probably null 0.01
IGL03348:Mrps5 APN 2 127,601,385 (GRCm38) missense probably damaging 0.98
R0369:Mrps5 UTSW 2 127,591,829 (GRCm38) missense probably benign 0.09
R0485:Mrps5 UTSW 2 127,591,825 (GRCm38) missense possibly damaging 0.56
R0622:Mrps5 UTSW 2 127,594,531 (GRCm38) missense probably benign 0.00
R1954:Mrps5 UTSW 2 127,596,897 (GRCm38) splice site probably null
R2182:Mrps5 UTSW 2 127,602,487 (GRCm38) missense probably damaging 1.00
R3414:Mrps5 UTSW 2 127,596,912 (GRCm38) missense probably benign 0.38
R4007:Mrps5 UTSW 2 127,591,835 (GRCm38) missense possibly damaging 0.81
R4780:Mrps5 UTSW 2 127,598,241 (GRCm38) missense probably benign 0.00
R4835:Mrps5 UTSW 2 127,603,707 (GRCm38) missense possibly damaging 0.84
R4851:Mrps5 UTSW 2 127,590,745 (GRCm38) missense probably benign 0.00
R5076:Mrps5 UTSW 2 127,600,852 (GRCm38) nonsense probably null
R5558:Mrps5 UTSW 2 127,602,435 (GRCm38) missense probably damaging 1.00
R6192:Mrps5 UTSW 2 127,601,385 (GRCm38) missense probably damaging 0.98
R7038:Mrps5 UTSW 2 127,600,866 (GRCm38) missense probably damaging 1.00
R7071:Mrps5 UTSW 2 127,600,852 (GRCm38) nonsense probably null
R7103:Mrps5 UTSW 2 127,601,410 (GRCm38) missense probably damaging 0.99
R7177:Mrps5 UTSW 2 127,595,697 (GRCm38) missense probably benign
R7319:Mrps5 UTSW 2 127,595,842 (GRCm38) missense possibly damaging 0.94
R7387:Mrps5 UTSW 2 127,600,884 (GRCm38) missense probably damaging 1.00
R7460:Mrps5 UTSW 2 127,591,891 (GRCm38) missense not run
R8211:Mrps5 UTSW 2 127,603,724 (GRCm38) missense probably benign
R9052:Mrps5 UTSW 2 127,591,956 (GRCm38) splice site probably benign
R9358:Mrps5 UTSW 2 127,595,814 (GRCm38) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AGGCTTGGAAACTGCATGGG -3'
(R):5'- GTGCATCTTACACACCCCAG -3'

Sequencing Primer
(F):5'- GCCTAGAGATGGCTTACATATTGTC -3'
(R):5'- GCAGCACATACAAGAAACTGTAAC -3'
Posted On 2015-10-21