Incidental Mutation 'R4235:Mrps27'
ID 321087
Institutional Source Beutler Lab
Gene Symbol Mrps27
Ensembl Gene ENSMUSG00000041632
Gene Name mitochondrial ribosomal protein S27
Synonyms 2610028H14Rik
MMRRC Submission 041052-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R4235 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 99481294-99552070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99541549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 218 (S218P)
Ref Sequence ENSEMBL: ENSMUSP00000156296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052249] [ENSMUST00000224660]
AlphaFold Q8BK72
Predicted Effect possibly damaging
Transcript: ENSMUST00000052249
AA Change: S177P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: S177P

DomainStartEndE-ValueType
Pfam:MRP-S27 1 413 8.3e-156 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180808
Predicted Effect probably damaging
Transcript: ENSMUST00000224660
AA Change: S218P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225973
Meta Mutation Damage Score 0.5586 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (68/70)
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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
5730596B20Rik G T 6: 52,155,941 (GRCm39) probably benign Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Bnc2 A G 4: 84,211,751 (GRCm39) V231A probably damaging Het
Bod1l A G 5: 41,978,798 (GRCm39) S839P probably damaging Het
Casp8 T A 1: 58,872,857 (GRCm39) H264Q possibly damaging Het
Cc2d1b A T 4: 108,482,549 (GRCm39) probably benign Het
Cpne6 A T 14: 55,751,057 (GRCm39) probably benign Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dgkd T A 1: 87,859,704 (GRCm39) L774* probably null Het
Fbxl2 T A 9: 113,818,231 (GRCm39) N205I probably benign Het
Fcgbpl1 T A 7: 27,856,073 (GRCm39) D1953E probably damaging Het
Fkbp15 A T 4: 62,254,693 (GRCm39) I269K probably benign Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Has1 G T 17: 18,070,298 (GRCm39) R208S possibly damaging Het
Hecw1 C G 13: 14,491,724 (GRCm39) A423P probably benign Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Ifi208 T G 1: 173,510,477 (GRCm39) S211A probably benign Het
Ighv6-3 T C 12: 114,355,494 (GRCm39) E65G probably damaging Het
Igkv9-120 A T 6: 68,027,317 (GRCm39) D77V probably benign Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm2a A G 19: 4,372,549 (GRCm39) I932T probably damaging Het
Krt17 T C 11: 100,148,694 (GRCm39) T279A possibly damaging Het
Lamp1 T C 8: 13,217,192 (GRCm39) V67A possibly damaging Het
Limk1 T C 5: 134,699,332 (GRCm39) I142V probably benign Het
Mamdc2 T C 19: 23,351,381 (GRCm39) N182D possibly damaging Het
Mcpt1 G A 14: 56,256,017 (GRCm39) probably null Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mfsd10 G T 5: 34,792,969 (GRCm39) T44N probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Neil2 A C 14: 63,429,290 (GRCm39) M1R probably null Het
Nelfcd T C 2: 174,268,841 (GRCm39) F587L probably damaging Het
Nfil3 T C 13: 53,122,835 (GRCm39) D23G probably benign Het
Nit2 T C 16: 56,977,523 (GRCm39) K169R probably benign Het
Nxt1 T C 2: 148,517,267 (GRCm39) S3P probably benign Het
Ogt A G X: 100,711,131 (GRCm39) N434D probably damaging Het
Or56a3 T A 7: 104,734,994 (GRCm39) S24T possibly damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pramel25 G C 4: 143,521,344 (GRCm39) C320S probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rsl1 T C 13: 67,325,226 (GRCm39) probably null Het
Sobp G A 10: 42,898,896 (GRCm39) H230Y probably damaging Het
Sptan1 A G 2: 29,916,600 (GRCm39) E2096G probably damaging Het
Tie1 G T 4: 118,335,602 (GRCm39) S797* probably null Het
Tmem266 T C 9: 55,325,391 (GRCm39) I186T probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tnfaip6 T C 2: 51,940,876 (GRCm39) F139S probably damaging Het
Tnrc6a T C 7: 122,770,903 (GRCm39) S898P probably benign Het
Trim24 A G 6: 37,941,675 (GRCm39) D911G probably damaging Het
Tyw5 T C 1: 57,427,647 (GRCm39) probably benign Het
Ubr3 C T 2: 69,846,729 (GRCm39) Q1651* probably null Het
Unc13c T A 9: 73,438,234 (GRCm39) I1943F possibly damaging Het
Usp47 T A 7: 111,709,255 (GRCm39) S1334T probably damaging Het
Vmn1r215 T A 13: 23,260,101 (GRCm39) V47E probably benign Het
Vmn1r224 T A 17: 20,639,624 (GRCm39) M67K possibly damaging Het
Wdfy3 T A 5: 102,070,500 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,254,704 (GRCm39) Y1433H probably benign Het
Other mutations in Mrps27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:Mrps27 APN 13 99,546,324 (GRCm39) missense probably damaging 1.00
IGL01685:Mrps27 APN 13 99,551,428 (GRCm39) missense possibly damaging 0.52
P0043:Mrps27 UTSW 13 99,548,754 (GRCm39) missense probably benign
R0122:Mrps27 UTSW 13 99,501,736 (GRCm39) missense probably benign 0.13
R0502:Mrps27 UTSW 13 99,546,303 (GRCm39) splice site probably benign
R0503:Mrps27 UTSW 13 99,546,303 (GRCm39) splice site probably benign
R0611:Mrps27 UTSW 13 99,541,582 (GRCm39) missense probably damaging 1.00
R1540:Mrps27 UTSW 13 99,541,558 (GRCm39) missense probably benign 0.17
R2566:Mrps27 UTSW 13 99,536,836 (GRCm39) nonsense probably null
R4227:Mrps27 UTSW 13 99,547,848 (GRCm39) missense probably damaging 1.00
R4715:Mrps27 UTSW 13 99,551,323 (GRCm39) splice site probably null
R4761:Mrps27 UTSW 13 99,548,739 (GRCm39) missense probably benign 0.10
R5114:Mrps27 UTSW 13 99,547,973 (GRCm39) unclassified probably benign
R5294:Mrps27 UTSW 13 99,546,381 (GRCm39) missense probably damaging 1.00
R6241:Mrps27 UTSW 13 99,548,754 (GRCm39) missense probably benign
R6387:Mrps27 UTSW 13 99,536,825 (GRCm39) missense possibly damaging 0.80
R6491:Mrps27 UTSW 13 99,499,538 (GRCm39) missense probably damaging 1.00
R6992:Mrps27 UTSW 13 99,541,522 (GRCm39) missense probably benign 0.16
R7165:Mrps27 UTSW 13 99,551,307 (GRCm39) missense possibly damaging 0.89
R7241:Mrps27 UTSW 13 99,547,788 (GRCm39) nonsense probably null
R7709:Mrps27 UTSW 13 99,541,504 (GRCm39) missense probably benign 0.21
R7720:Mrps27 UTSW 13 99,537,838 (GRCm39) missense unknown
R8706:Mrps27 UTSW 13 99,541,508 (GRCm39) missense probably damaging 1.00
Z1177:Mrps27 UTSW 13 99,551,351 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TGTGAATGGCTTGACAAGGAC -3'
(R):5'- GGTTCAGAGAGCAAGGTTCC -3'

Sequencing Primer
(F):5'- CTTGACAAGGACCTGCTTCGTAG -3'
(R):5'- AGAGCAAGGTTCCCCGGC -3'
Posted On 2015-06-12