Incidental Mutation 'R0398:Mrpl3'
ID 32133
Institutional Source Beutler Lab
Gene Symbol Mrpl3
Ensembl Gene ENSMUSG00000032563
Gene Name mitochondrial ribosomal protein L3
Synonyms dcr, 5930422H18Rik, 2010320L16Rik
MMRRC Submission 038603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0398 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 104930394-104954665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104941302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 203 (Y203C)
Ref Sequence ENSEMBL: ENSMUSP00000117547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035177] [ENSMUST00000131655] [ENSMUST00000142424] [ENSMUST00000149243]
AlphaFold Q99N95
Predicted Effect probably damaging
Transcript: ENSMUST00000035177
AA Change: Y203C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035177
Gene: ENSMUSG00000032563
AA Change: Y203C

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 119 1.1e-13 PFAM
Pfam:Ribosomal_L3 112 340 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131655
SMART Domains Protein: ENSMUSP00000120313
Gene: ENSMUSG00000032563

DomainStartEndE-ValueType
PDB:4CE4|E 1 148 1e-82 PDB
SCOP:d1jj2b_ 90 148 5e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142424
Predicted Effect probably damaging
Transcript: ENSMUST00000149243
AA Change: Y203C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117547
Gene: ENSMUSG00000032563
AA Change: Y203C

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 103 300 1.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215577
Meta Mutation Damage Score 0.5864 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 83.2%
Validation Efficiency 100% (81/81)
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 that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,117,010 (GRCm39) Q546R probably null Het
Acr T G 15: 89,458,144 (GRCm39) V275G probably damaging Het
Adam5 A G 8: 25,303,448 (GRCm39) Y160H probably benign Het
Adcy5 T A 16: 35,089,438 (GRCm39) M545K probably damaging Het
Aoc2 A G 11: 101,216,379 (GRCm39) E154G possibly damaging Het
Atg2a T G 19: 6,296,608 (GRCm39) L338R probably damaging Het
Atp2a1 T C 7: 126,049,590 (GRCm39) probably benign Het
Bbs7 A G 3: 36,644,866 (GRCm39) S436P probably benign Het
Bpnt1 T C 1: 185,070,355 (GRCm39) Y16H probably benign Het
Cbll1 A T 12: 31,542,091 (GRCm39) F90Y probably damaging Het
Cbs G T 17: 31,836,216 (GRCm39) Q411K probably benign Het
Cdca2 A C 14: 67,935,411 (GRCm39) F435V probably damaging Het
Cdh13 T G 8: 120,040,786 (GRCm39) S664A probably damaging Het
Cdk17 T A 10: 93,073,702 (GRCm39) V438E probably benign Het
Cep295 T C 9: 15,266,032 (GRCm39) D40G possibly damaging Het
Col6a1 T C 10: 76,545,952 (GRCm39) H840R unknown Het
Cpa1 A G 6: 30,645,250 (GRCm39) T409A probably benign Het
Crlf1 G A 8: 70,951,739 (GRCm39) probably benign Het
E2f2 T A 4: 135,907,855 (GRCm39) I184N probably damaging Het
Ehbp1 T C 11: 22,045,886 (GRCm39) D596G probably damaging Het
Elapor2 A G 5: 9,495,367 (GRCm39) R724G probably benign Het
Ets2 A G 16: 95,517,267 (GRCm39) Y333C probably damaging Het
Fam178b A G 1: 36,671,487 (GRCm39) probably benign Het
Fndc3b A G 3: 27,515,928 (GRCm39) V626A probably benign Het
Gart G T 16: 91,436,337 (GRCm39) A140E probably damaging Het
Gbp7 T C 3: 142,251,274 (GRCm39) S477P possibly damaging Het
Gm16380 T C 9: 53,791,453 (GRCm39) noncoding transcript Het
Hmcn1 C A 1: 150,674,565 (GRCm39) R579M possibly damaging Het
Hoxb8 A C 11: 96,173,937 (GRCm39) H50P probably damaging Het
Hspa4 C T 11: 53,163,706 (GRCm39) probably null Het
Hspa4l G A 3: 40,711,429 (GRCm39) probably benign Het
Hyal4 A T 6: 24,756,670 (GRCm39) Y296F probably damaging Het
Igsf8 C A 1: 172,145,066 (GRCm39) T131K probably damaging Het
Ilvbl C T 10: 78,415,373 (GRCm39) P298L probably damaging Het
Jak2 T A 19: 29,259,788 (GRCm39) I229N possibly damaging Het
Kif1b T C 4: 149,288,688 (GRCm39) D1205G possibly damaging Het
Lrrc63 T C 14: 75,363,910 (GRCm39) R74G probably benign Het
Lvrn A G 18: 47,013,760 (GRCm39) T481A probably benign Het
Macf1 T A 4: 123,244,810 (GRCm39) T7312S probably damaging Het
Magel2 C T 7: 62,030,299 (GRCm39) Q1068* probably null Het
Nek2 T A 1: 191,559,473 (GRCm39) I326N probably benign Het
Nlrc4 A C 17: 74,752,915 (GRCm39) N489K probably damaging Het
Nlrp4f A T 13: 65,342,732 (GRCm39) S304R possibly damaging Het
Ogfr C G 2: 180,235,492 (GRCm39) R189G probably damaging Het
Or52b4i T A 7: 102,191,899 (GRCm39) L252H probably damaging Het
Or5p78 T A 7: 108,212,162 (GRCm39) I216N probably benign Het
Or5w8 A T 2: 87,688,401 (GRCm39) N294I probably damaging Het
Orm3 A G 4: 63,275,885 (GRCm39) S145G probably benign Het
Pclo A G 5: 14,731,716 (GRCm39) E3406G unknown Het
Pcx T G 19: 4,651,638 (GRCm39) F4C probably benign Het
Pgd C A 4: 149,238,339 (GRCm39) G364V probably damaging Het
Pla2g12a C A 3: 129,684,045 (GRCm39) D102E probably benign Het
Pnpo A T 11: 96,833,253 (GRCm39) C82* probably null Het
Prdm1 T C 10: 44,315,805 (GRCm39) N792S probably damaging Het
Prim2 A T 1: 33,523,757 (GRCm39) probably benign Het
Proca1 C A 11: 78,096,094 (GRCm39) P242Q probably benign Het
Psmc5 A G 11: 106,152,370 (GRCm39) N129S probably benign Het
Ptchd4 A G 17: 42,688,150 (GRCm39) T231A possibly damaging Het
Qrfpr C T 3: 36,235,201 (GRCm39) probably benign Het
Rab44 G A 17: 29,364,344 (GRCm39) probably benign Het
Racgap1 T C 15: 99,526,508 (GRCm39) probably benign Het
Rapgef4 A G 2: 71,861,385 (GRCm39) E25G probably damaging Het
Rpl8 G C 15: 76,789,246 (GRCm39) probably benign Het
Samd12 G A 15: 53,583,116 (GRCm39) P73S possibly damaging Het
Samd9l T A 6: 3,374,502 (GRCm39) N920Y probably damaging Het
Sdk1 T C 5: 141,948,476 (GRCm39) V607A probably benign Het
Slc25a19 A G 11: 115,508,401 (GRCm39) Y196H probably damaging Het
Slc39a3 A T 10: 80,869,621 (GRCm39) M12K possibly damaging Het
Slc5a4a T C 10: 76,018,556 (GRCm39) I501T possibly damaging Het
Sp4 A T 12: 118,262,408 (GRCm39) V546D possibly damaging Het
Ssh3 C T 19: 4,313,727 (GRCm39) V511M possibly damaging Het
Stard9 T G 2: 120,526,788 (GRCm39) V1015G probably benign Het
Thoc5 G T 11: 4,871,978 (GRCm39) V516F possibly damaging Het
Ttc21a T A 9: 119,783,628 (GRCm39) I570N probably damaging Het
Ttc4 T C 4: 106,524,770 (GRCm39) probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Yipf3 A G 17: 46,562,411 (GRCm39) E298G possibly damaging Het
Zbtb34 C A 2: 33,301,060 (GRCm39) E494* probably null Het
Zfhx3 A G 8: 109,677,878 (GRCm39) Y2976C probably damaging Het
Other mutations in Mrpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Mrpl3 APN 9 104,941,305 (GRCm39) missense probably damaging 1.00
IGL00917:Mrpl3 APN 9 104,934,240 (GRCm39) missense probably damaging 1.00
IGL01989:Mrpl3 APN 9 104,948,678 (GRCm39) missense probably benign 0.39
IGL02727:Mrpl3 APN 9 104,931,726 (GRCm39) missense probably damaging 0.99
IGL03188:Mrpl3 APN 9 104,934,264 (GRCm39) missense probably benign 0.00
R0049:Mrpl3 UTSW 9 104,932,872 (GRCm39) missense probably benign 0.06
R0049:Mrpl3 UTSW 9 104,932,872 (GRCm39) missense probably benign 0.06
R1469:Mrpl3 UTSW 9 104,954,201 (GRCm39) missense probably damaging 0.99
R1469:Mrpl3 UTSW 9 104,954,201 (GRCm39) missense probably damaging 0.99
R1784:Mrpl3 UTSW 9 104,934,266 (GRCm39) missense probably benign 0.00
R4026:Mrpl3 UTSW 9 104,948,685 (GRCm39) critical splice donor site probably null
R4812:Mrpl3 UTSW 9 104,951,023 (GRCm39) missense probably damaging 1.00
R4838:Mrpl3 UTSW 9 104,934,231 (GRCm39) missense probably damaging 1.00
R5407:Mrpl3 UTSW 9 104,954,294 (GRCm39) missense probably benign 0.03
R8219:Mrpl3 UTSW 9 104,934,271 (GRCm39) missense possibly damaging 0.48
RF016:Mrpl3 UTSW 9 104,952,452 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- CTCACTCATTTAGAGCAGCTCCACC -3'
(R):5'- ACCAGCAGTCAGTGACTTTACACAC -3'

Sequencing Primer
(F):5'- CTTGGCTTTCTCATCATTAAGTAGG -3'
(R):5'- GTCAGTGACTTTACACACAGACG -3'
Posted On 2013-04-24