Incidental Mutation 'R1321:Mrpl42'
ID 157690
Institutional Source Beutler Lab
Gene Symbol Mrpl42
Ensembl Gene ENSMUSG00000062981
Gene Name mitochondrial ribosomal protein L42
Synonyms 2900055D03Rik, MRP-L31, D10Ertd322e, Rpml31, HSPC204, PTD007, 2700009F22Rik
MMRRC Submission 039387-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.857) question?
Stock # R1321 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 95316667-95337802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95329573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 46 (V46M)
Ref Sequence ENSEMBL: ENSMUSP00000151613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075829] [ENSMUST00000217777] [ENSMUST00000218893] [ENSMUST00000219019]
AlphaFold Q9CPV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000075829
AA Change: V46M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075226
Gene: ENSMUSG00000062981
AA Change: V46M

DomainStartEndE-ValueType
Pfam:MRP-S32 45 142 6.8e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217777
AA Change: V46M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218893
AA Change: V46M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218996
Predicted Effect probably damaging
Transcript: ENSMUST00000219019
AA Change: V46M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (41/41)
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 protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,945,318 (GRCm39) probably benign Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
C2cd2l A G 9: 44,228,878 (GRCm39) probably null Het
Cass4 T A 2: 172,266,572 (GRCm39) L205Q probably benign Het
Ccn3 G T 15: 54,612,642 (GRCm39) C217F probably damaging Het
Celsr3 G A 9: 108,713,069 (GRCm39) D1834N probably damaging Het
Col12a1 A T 9: 79,524,991 (GRCm39) C2723* probably null Het
Cps1 A G 1: 67,182,178 (GRCm39) probably benign Het
Dolpp1 A G 2: 30,285,748 (GRCm39) I49V possibly damaging Het
Dppa2 A G 16: 48,131,999 (GRCm39) E32G possibly damaging Het
Eif2b5 C T 16: 20,323,439 (GRCm39) R397* probably null Het
Far2 G T 6: 148,075,034 (GRCm39) probably benign Het
Fbxo42 C T 4: 140,895,160 (GRCm39) T41I probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Galnt13 G A 2: 54,988,606 (GRCm39) R476Q probably damaging Het
Galnt18 A T 7: 111,378,639 (GRCm39) V39E probably benign Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21954 C T 3: 55,379,627 (GRCm39) probably benign Het
Lct A C 1: 128,227,759 (GRCm39) L1245V probably benign Het
Lgr5 T C 10: 115,314,362 (GRCm39) T192A probably damaging Het
Mybpc1 C T 10: 88,365,403 (GRCm39) V907M possibly damaging Het
Mybpc1 T A 10: 88,406,463 (GRCm39) Y127F probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Otud4 T C 8: 80,396,579 (GRCm39) S613P probably benign Het
P2ry12 T C 3: 59,124,646 (GRCm39) E343G possibly damaging Het
Pbrm1 A C 14: 30,789,459 (GRCm39) K670T probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Reg3b A G 6: 78,349,936 (GRCm39) probably null Het
Sppl3 TGG TG 5: 115,226,352 (GRCm39) probably null Het
Ssr2 T C 3: 88,484,261 (GRCm39) probably benign Het
Syne3 A C 12: 104,942,055 (GRCm39) V29G probably benign Het
Ubr4 T C 4: 139,187,434 (GRCm39) V3834A possibly damaging Het
Vmn2r112 C T 17: 22,837,500 (GRCm39) Q654* probably null Het
Vmn2r14 C T 5: 109,364,117 (GRCm39) V600I probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Mrpl42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Mrpl42 APN 10 95,326,202 (GRCm39) missense probably benign
R4979:Mrpl42 UTSW 10 95,326,237 (GRCm39) missense probably benign 0.41
R5999:Mrpl42 UTSW 10 95,336,341 (GRCm39) start gained probably benign
R6268:Mrpl42 UTSW 10 95,332,569 (GRCm39) splice site probably null
R7570:Mrpl42 UTSW 10 95,316,827 (GRCm39) missense probably benign 0.01
R9516:Mrpl42 UTSW 10 95,332,684 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGGAGTCAACCCAAAGCCTCAAA -3'
(R):5'- caaagctctccacaTAGCAGGCA -3'

Sequencing Primer
(F):5'- caggtggtcgggattacag -3'
(R):5'- ttggaggcagaggcagg -3'
Posted On 2014-02-18