Incidental Mutation 'R5305:Mrpl20'
ID 404490
Institutional Source Beutler Lab
Gene Symbol Mrpl20
Ensembl Gene ENSMUSG00000029066
Gene Name mitochondrial ribosomal protein L20
Synonyms 2610008D01Rik, 4930425I20Rik
MMRRC Submission 042888-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R5305 (G1)
Quality Score 96
Status Validated
Chromosome 4
Chromosomal Location 155887335-155893288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155888162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 17 (R17H)
Ref Sequence ENSEMBL: ENSMUSP00000139007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000105593] [ENSMUST00000130188] [ENSMUST00000137487] [ENSMUST00000185148]
AlphaFold Q9CQL4
Predicted Effect probably damaging
Transcript: ENSMUST00000030942
AA Change: R17H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066
AA Change: R17H

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 11 116 2.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105593
SMART Domains Protein: ENSMUSP00000101218
Gene: ENSMUSG00000078487

DomainStartEndE-ValueType
ANK 32 61 2.32e2 SMART
ANK 65 94 1.31e-4 SMART
ANK 98 127 2.16e-5 SMART
ANK 165 195 2.47e0 SMART
low complexity region 205 215 N/A INTRINSIC
low complexity region 225 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130188
AA Change: R17H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139007
Gene: ENSMUSG00000029066
AA Change: R17H

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 94 6.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137487
AA Change: R17H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066
AA Change: R17H

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 116 1.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184339
Predicted Effect probably damaging
Transcript: ENSMUST00000185148
AA Change: R17H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066
AA Change: R17H

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 79 1.5e-21 PFAM
Meta Mutation Damage Score 0.5190 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (67/68)
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 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,943,420 (GRCm39) V11M possibly damaging Het
Acot8 A G 2: 164,637,685 (GRCm39) V179A probably benign Het
Actb A G 5: 142,889,985 (GRCm39) I194T probably benign Het
Ap1g2 A G 14: 55,336,533 (GRCm39) V787A probably benign Het
Areg G T 5: 91,292,308 (GRCm39) A203S probably damaging Het
Asb13 A T 13: 3,693,479 (GRCm39) D79V probably damaging Het
Atad2b C T 12: 5,015,855 (GRCm39) T527I probably damaging Het
Auts2 T G 5: 131,472,632 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,885,501 (GRCm39) S35T probably damaging Het
Crebzf T C 7: 90,093,342 (GRCm39) probably benign Het
Cttnbp2 G T 6: 18,381,097 (GRCm39) N1366K probably benign Het
Cubn C A 2: 13,393,750 (GRCm39) C1417F probably damaging Het
Dot1l C T 10: 80,626,627 (GRCm39) P162S probably benign Het
Epc1 G A 18: 6,490,690 (GRCm39) probably benign Het
Eps8l1 A G 7: 4,480,895 (GRCm39) S613G possibly damaging Het
Erich6 T G 3: 58,532,537 (GRCm39) I357L probably benign Het
Foxj3 T A 4: 119,477,155 (GRCm39) S288T possibly damaging Het
Gls2 T G 10: 128,040,578 (GRCm39) Y326* probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm7535 T C 17: 18,132,061 (GRCm39) probably benign Het
Gxylt2 T G 6: 100,764,179 (GRCm39) L288R probably damaging Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Mgat4c T A 10: 102,225,140 (GRCm39) F451L possibly damaging Het
Mtf2 A G 5: 108,252,365 (GRCm39) T465A possibly damaging Het
Mycbp2 A C 14: 103,583,757 (GRCm39) L66R probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nr2e1 A T 10: 42,447,483 (GRCm39) Y176* probably null Het
Obscn T C 11: 58,903,541 (GRCm39) T7628A possibly damaging Het
Or7a37 A T 10: 78,806,390 (GRCm39) K302N possibly damaging Het
Pitx2 T G 3: 129,009,489 (GRCm39) V129G probably damaging Het
Polr2e A G 10: 79,873,897 (GRCm39) probably benign Het
Ppard A G 17: 28,517,832 (GRCm39) D300G probably damaging Het
Ppp1r27 A G 11: 120,441,743 (GRCm39) V46A probably benign Het
Prex2 T A 1: 11,177,902 (GRCm39) V332E probably damaging Het
Prss30 T G 17: 24,191,750 (GRCm39) Y257S probably benign Het
Ptprd T C 4: 75,900,863 (GRCm39) E1082G probably damaging Het
Rab3c T A 13: 110,317,611 (GRCm39) R89S probably damaging Het
Rimbp2 A G 5: 128,874,445 (GRCm39) V389A possibly damaging Het
Rims1 T A 1: 22,635,623 (GRCm39) R119S probably damaging Het
Sema3b T C 9: 107,480,536 (GRCm39) H137R probably null Het
Sf3b4 G C 3: 96,080,958 (GRCm39) A89P probably damaging Het
Sgta T A 10: 80,882,081 (GRCm39) Q298L probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sry T A Y: 2,662,982 (GRCm39) D226V unknown Het
Sv2a A G 3: 96,092,774 (GRCm39) E158G possibly damaging Het
Sytl2 A G 7: 90,031,071 (GRCm39) probably benign Het
Thbs3 T A 3: 89,125,283 (GRCm39) probably benign Het
Top3a A T 11: 60,653,365 (GRCm39) N56K possibly damaging Het
Tyk2 T C 9: 21,020,677 (GRCm39) D918G probably damaging Het
Uqcrh A G 4: 115,924,481 (GRCm39) probably benign Het
Vmn1r61 A G 7: 5,613,814 (GRCm39) S167P probably damaging Het
Wdr25 C A 12: 108,992,366 (GRCm39) H74N probably damaging Het
Zfp458 T C 13: 67,404,382 (GRCm39) N686D probably benign Het
Zfp574 T A 7: 24,780,515 (GRCm39) H512Q Het
Zfp976 A T 7: 42,262,902 (GRCm39) Y312N probably benign Het
Zscan4c G A 7: 10,743,462 (GRCm39) V354I probably benign Het
Other mutations in Mrpl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Mrpl20 APN 4 155,893,041 (GRCm39) missense probably benign 0.00
R3055:Mrpl20 UTSW 4 155,888,329 (GRCm39) missense possibly damaging 0.89
R3056:Mrpl20 UTSW 4 155,888,329 (GRCm39) missense possibly damaging 0.89
R4082:Mrpl20 UTSW 4 155,892,970 (GRCm39) missense probably damaging 0.99
R4846:Mrpl20 UTSW 4 155,892,993 (GRCm39) missense possibly damaging 0.85
R5779:Mrpl20 UTSW 4 155,891,378 (GRCm39) missense probably damaging 1.00
R6576:Mrpl20 UTSW 4 155,891,371 (GRCm39) missense probably benign 0.08
R9360:Mrpl20 UTSW 4 155,888,402 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCTGGCACAACGGAACTGAG -3'
(R):5'- GGTTCCGCTTCTTAAGTCTGCG -3'

Sequencing Primer
(F):5'- ACTGAGGGAGCGAGTCTAG -3'
(R):5'- TTAACGAAGGCTCTGGTCAC -3'
Posted On 2016-07-22