Incidental Mutation 'R5999:Mrpl42'
ID 480732
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 044178-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R5999 (G1)
Quality Score 215.009
Status Not validated
Chromosome 10
Chromosomal Location 95316667-95337802 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 95336341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075829] [ENSMUST00000217777] [ENSMUST00000218893] [ENSMUST00000219019]
AlphaFold Q9CPV3
Predicted Effect probably benign
Transcript: ENSMUST00000075829
SMART Domains Protein: ENSMUSP00000075226
Gene: ENSMUSG00000062981

DomainStartEndE-ValueType
Pfam:MRP-S32 45 142 6.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217777
Predicted Effect probably benign
Transcript: ENSMUST00000218893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218996
Predicted Effect probably benign
Transcript: ENSMUST00000219019
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A G 12: 84,122,328 (GRCm39) D304G probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akap9 A G 5: 4,093,925 (GRCm39) N2149S probably damaging Het
Akp3 T A 1: 87,055,263 (GRCm39) Y437N probably damaging Het
Anks1b C T 10: 90,194,910 (GRCm39) T530I probably damaging Het
Bltp2 T C 11: 78,176,294 (GRCm39) F1799L probably damaging Het
Bnc2 C T 4: 84,474,137 (GRCm39) R3H probably benign Het
Cald1 A T 6: 34,723,273 (GRCm39) probably benign Het
Capn9 A G 8: 125,315,817 (GRCm39) T87A probably damaging Het
Ccdc88c A G 12: 100,934,613 (GRCm39) L175P probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cd44 A T 2: 102,675,742 (GRCm39) N310K probably benign Het
Cenpc1 T A 5: 86,160,122 (GRCm39) K905N probably damaging Het
Cept1 A T 3: 106,440,759 (GRCm39) D133E probably damaging Het
Cltc T C 11: 86,594,955 (GRCm39) H1381R possibly damaging Het
Col4a4 T A 1: 82,470,340 (GRCm39) T730S unknown Het
Col6a4 A T 9: 105,945,120 (GRCm39) M998K probably benign Het
Cpne6 T C 14: 55,750,516 (GRCm39) V119A probably benign Het
Ddx54 G T 5: 120,761,645 (GRCm39) A474S probably benign Het
Dmbx1 G T 4: 115,775,373 (GRCm39) N302K probably damaging Het
Dnah8 A G 17: 30,882,279 (GRCm39) E617G probably benign Het
Ei24 A G 9: 36,704,603 (GRCm39) V10A probably benign Het
Elp3 A G 14: 65,768,989 (GRCm39) V543A probably benign Het
Frmd3 T C 4: 74,088,928 (GRCm39) I375T possibly damaging Het
Gm6408 A G 5: 146,421,067 (GRCm39) D232G possibly damaging Het
Inmt A T 6: 55,151,933 (GRCm39) Y12* probably null Het
Inpp5k G T 11: 75,523,926 (GRCm39) A44S probably damaging Het
Kalrn T A 16: 34,177,713 (GRCm39) T169S probably damaging Het
Kif28 A T 1: 179,523,355 (GRCm39) F992I probably damaging Het
Kmt2c A T 5: 25,489,203 (GRCm39) Y1199N probably damaging Het
Large2 C T 2: 92,196,403 (GRCm39) E475K probably benign Het
Mroh2b T A 15: 4,942,366 (GRCm39) probably null Het
Muc5b A T 7: 141,411,116 (GRCm39) H1354L unknown Het
Myof C A 19: 37,928,304 (GRCm39) E1095* probably null Het
Ncor2 A G 5: 125,110,505 (GRCm39) V1385A probably damaging Het
Nr5a2 T C 1: 136,773,280 (GRCm39) Y474C probably damaging Het
Or1j10 A G 2: 36,267,322 (GRCm39) D178G probably damaging Het
Or5a21 C T 19: 12,311,008 (GRCm39) D71N probably damaging Het
Or5l13 A T 2: 87,780,145 (GRCm39) probably null Het
Pogz A G 3: 94,763,428 (GRCm39) T67A possibly damaging Het
Prep T A 10: 44,948,225 (GRCm39) probably null Het
Prf1 A G 10: 61,138,807 (GRCm39) D255G probably damaging Het
Psme2 A G 14: 55,827,539 (GRCm39) L24P probably damaging Het
Scmh1 T A 4: 120,362,712 (GRCm39) probably null Het
Scpep1 A G 11: 88,820,139 (GRCm39) V383A possibly damaging Het
Slc4a10 A T 2: 62,073,775 (GRCm39) N279I probably benign Het
Sphkap T C 1: 83,245,126 (GRCm39) S1498G probably benign Het
Spinkl C A 18: 44,301,206 (GRCm39) S44I probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tle5 T C 10: 81,397,098 (GRCm39) S25P probably damaging Het
Tmem213 A G 6: 38,086,386 (GRCm39) Q14R probably benign Het
Tns1 A T 1: 73,967,256 (GRCm39) Y1172* probably null Het
Ugt2b37 A C 5: 87,402,036 (GRCm39) I198M probably benign Het
Usp17lb A C 7: 104,489,552 (GRCm39) I457M probably damaging Het
Usp6nl G T 2: 6,446,150 (GRCm39) R709L probably damaging Het
Zer1 A G 2: 29,995,009 (GRCm39) L462P probably damaging Het
Zfhx2 A G 14: 55,311,462 (GRCm39) S411P probably benign Het
Other mutations in Mrpl42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Mrpl42 APN 10 95,326,202 (GRCm39) missense probably benign
R1321:Mrpl42 UTSW 10 95,329,573 (GRCm39) missense probably damaging 1.00
R4979:Mrpl42 UTSW 10 95,326,237 (GRCm39) missense probably benign 0.41
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
Posted On 2017-06-26