Incidental Mutation 'R3055:Mrpl20'
ID 265115
Institutional Source Beutler Lab
Gene Symbol Mrpl20
Ensembl Gene ENSMUSG00000029066
Gene Name mitochondrial ribosomal protein L20
Synonyms 2610008D01Rik, 4930425I20Rik
MMRRC Submission 040564-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R3055 (G1)
Quality Score 206
Status Validated
Chromosome 4
Chromosomal Location 155887335-155893288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 155888329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 43 (V43F)
Ref Sequence ENSEMBL: ENSMUSP00000139007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030942] [ENSMUST00000105593] [ENSMUST00000130188] [ENSMUST00000137487] [ENSMUST00000185148]
AlphaFold Q9CQL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000030942
AA Change: V43F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030942
Gene: ENSMUSG00000029066
AA Change: V43F

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 possibly damaging
Transcript: ENSMUST00000130188
AA Change: V43F

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139007
Gene: ENSMUSG00000029066
AA Change: V43F

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 94 6.3e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000137487
AA Change: V43F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139122
Gene: ENSMUSG00000029066
AA Change: V43F

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 benign
Transcript: ENSMUST00000185148
SMART Domains Protein: ENSMUSP00000139169
Gene: ENSMUSG00000029066

DomainStartEndE-ValueType
Pfam:Ribosomal_L20 10 79 1.5e-21 PFAM
Meta Mutation Damage Score 0.1136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A G 14: 4,348,878 (GRCm38) E13G probably damaging Het
5730596B20Rik A T 6: 52,156,108 (GRCm39) probably benign Het
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca16 A G 7: 120,035,074 (GRCm39) M287V probably benign Het
Abca7 G A 10: 79,835,581 (GRCm39) R283H probably damaging Het
Acad11 A G 9: 103,953,535 (GRCm39) I126V probably damaging Het
Ahrr A G 13: 74,373,006 (GRCm39) V148A probably damaging Het
Aldh1l2 T C 10: 83,338,336 (GRCm39) K528E probably benign Het
Atp6v0a2 T A 5: 124,765,209 (GRCm39) probably benign Het
Atxn10 A G 15: 85,271,206 (GRCm39) D248G probably benign Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Ddx25 A G 9: 35,462,647 (GRCm39) V246A probably damaging Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Dscam G A 16: 96,602,555 (GRCm39) T629I probably damaging Het
Evi5l C T 8: 4,241,603 (GRCm39) R311* probably null Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gldn A T 9: 54,245,807 (GRCm39) T453S probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lgr5 T A 10: 115,302,028 (GRCm39) probably benign Het
Mier3 T A 13: 111,827,837 (GRCm39) D7E probably damaging Het
Mms19 A T 19: 41,938,527 (GRCm39) probably benign Het
Muc5b G T 7: 141,417,778 (GRCm39) V3575F probably damaging Het
Naip5 T C 13: 100,358,386 (GRCm39) Y950C probably benign Het
Or4d2 A G 11: 87,784,198 (GRCm39) V184A possibly damaging Het
Or5t9 T C 2: 86,659,471 (GRCm39) F125S possibly damaging Het
Or8b12b G T 9: 37,684,489 (GRCm39) C178F probably damaging Het
Pkd1l2 T A 8: 117,795,054 (GRCm39) probably null Het
Prune2 A G 19: 17,102,407 (GRCm39) E2522G probably damaging Het
Radil T C 5: 142,481,161 (GRCm39) T549A possibly damaging Het
Radx T A X: 138,412,306 (GRCm39) V439E possibly damaging Het
Rasa2 G A 9: 96,493,526 (GRCm39) L53F possibly damaging Het
Rasgrf2 A G 13: 92,165,583 (GRCm39) F306L probably damaging Het
Rbm19 C T 5: 120,271,075 (GRCm39) R633C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,280,366 (GRCm39) L353H probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Stil T A 4: 114,871,266 (GRCm39) probably benign Het
Tjp3 T C 10: 81,116,341 (GRCm39) K251R probably benign Het
Ugt2b35 A T 5: 87,149,457 (GRCm39) Y236F probably benign Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn1r121 G A 7: 20,832,390 (GRCm39) Q17* probably null Het
Vmn2r28 A T 7: 5,484,391 (GRCm39) L603Q probably damaging Het
Vps13b A G 15: 35,646,507 (GRCm39) E1537G probably damaging Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Yae1d1 T C 13: 18,167,827 (GRCm39) E22G probably damaging Het
Other mutations in Mrpl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Mrpl20 APN 4 155,893,041 (GRCm39) missense probably benign 0.00
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
R5305:Mrpl20 UTSW 4 155,888,162 (GRCm39) missense probably damaging 1.00
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'- ATCATGGTCTTCCTCACGACG -3'
(R):5'- GCTACAGAAGGCTAAGCTCC -3'

Sequencing Primer
(F):5'- GGAACCGCCTCACCGATC -3'
(R):5'- TAAGCTCCGGGGGCATG -3'
Posted On 2015-02-05