Incidental Mutation 'R6650:Mrpl22'
ID 527750
Institutional Source Beutler Lab
Gene Symbol Mrpl22
Ensembl Gene ENSMUSG00000020514
Gene Name mitochondrial ribosomal protein L22
Synonyms HSPC158, E030011D16Rik, Rpml25, MRP-L25
MMRRC Submission 044771-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6650 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58062487-58070391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58066134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 76 (Y76C)
Ref Sequence ENSEMBL: ENSMUSP00000020820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020820]
AlphaFold Q8BU88
Predicted Effect probably damaging
Transcript: ENSMUST00000020820
AA Change: Y76C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514
AA Change: Y76C

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Ribosomal_L22 70 173 6.8e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140997
Meta Mutation Damage Score 0.6289 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
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 L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,659,639 (GRCm39) N97S probably benign Het
Aph1a T C 3: 95,803,598 (GRCm39) V220A probably benign Het
Bin2 T A 15: 100,567,301 (GRCm39) Q25L probably damaging Het
Ccdc102a T C 8: 95,639,892 (GRCm39) E134G probably benign Het
Cdh6 A G 15: 13,051,487 (GRCm39) V382A probably benign Het
Cep135 T A 5: 76,781,548 (GRCm39) V845E possibly damaging Het
Cngb3 T C 4: 19,364,168 (GRCm39) L124P probably damaging Het
Cped1 A G 6: 22,233,975 (GRCm39) N725S probably damaging Het
Dcn C A 10: 97,343,605 (GRCm39) N188K probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Ercc3 C T 18: 32,394,389 (GRCm39) R590C probably damaging Het
Fchsd1 A T 18: 38,099,555 (GRCm39) L213* probably null Het
Fmod A G 1: 133,968,745 (GRCm39) S262G probably benign Het
Gm45861 T C 8: 27,995,043 (GRCm39) S530P unknown Het
Ifih1 T C 2: 62,436,791 (GRCm39) D544G possibly damaging Het
Itpr1 A G 6: 108,371,034 (GRCm39) probably null Het
Larp1 CA CAA 11: 57,949,422 (GRCm39) probably null Het
Lbp T A 2: 158,151,587 (GRCm39) S102R probably benign Het
Lepr C A 4: 101,672,398 (GRCm39) Q1141K probably damaging Het
Mcm8 C A 2: 132,663,327 (GRCm39) N148K probably benign Het
Mcpt4 T G 14: 56,298,090 (GRCm39) T154P possibly damaging Het
Msln T C 17: 25,969,144 (GRCm39) I414V probably benign Het
Ncor1 G A 11: 62,225,367 (GRCm39) T1798I probably damaging Het
Nlrp4c T A 7: 6,068,948 (GRCm39) F283Y probably damaging Het
Os9 C T 10: 126,935,953 (GRCm39) probably null Het
Pira12 T A 7: 3,898,632 (GRCm39) Q272L probably benign Het
Pira13 T A 7: 3,819,898 (GRCm39) H555L possibly damaging Het
Pja2 T C 17: 64,599,936 (GRCm39) E516G probably damaging Het
Pofut1 T A 2: 153,101,270 (GRCm39) probably benign Het
Prl2b1 G T 13: 27,569,249 (GRCm39) H116Q probably benign Het
Ralgapa2 T C 2: 146,230,422 (GRCm39) K1048E probably damaging Het
Scnn1b G A 7: 121,502,043 (GRCm39) V234M probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2a C T 19: 47,256,663 (GRCm39) G685D probably benign Het
Six4 C A 12: 73,150,299 (GRCm39) G749C probably benign Het
Tnn G A 1: 159,942,153 (GRCm39) T1115I probably damaging Het
Tpcn1 T A 5: 120,675,627 (GRCm39) Q779L probably null Het
Ugt2a2 A G 5: 87,622,459 (GRCm39) Y380H probably damaging Het
Xkr8 T C 4: 132,455,249 (GRCm39) T375A probably benign Het
Zdhhc20 T A 14: 58,096,032 (GRCm39) K135N probably damaging Het
Zfp235 T A 7: 23,836,463 (GRCm39) probably null Het
Zfp354c A G 11: 50,705,518 (GRCm39) V519A probably damaging Het
Other mutations in Mrpl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Mrpl22 APN 11 58,062,670 (GRCm39) critical splice donor site probably null
IGL02081:Mrpl22 APN 11 58,062,647 (GRCm39) missense probably benign
IGL02484:Mrpl22 APN 11 58,063,888 (GRCm39) missense possibly damaging 0.81
R0164:Mrpl22 UTSW 11 58,062,647 (GRCm39) missense probably benign
R0164:Mrpl22 UTSW 11 58,062,647 (GRCm39) missense probably benign
R4222:Mrpl22 UTSW 11 58,062,693 (GRCm39) unclassified probably benign
R4489:Mrpl22 UTSW 11 58,063,928 (GRCm39) missense probably benign 0.17
R5718:Mrpl22 UTSW 11 58,068,109 (GRCm39) missense probably benign
R8407:Mrpl22 UTSW 11 58,066,156 (GRCm39) nonsense probably null
R9171:Mrpl22 UTSW 11 58,070,185 (GRCm39) missense possibly damaging 0.90
R9641:Mrpl22 UTSW 11 58,068,047 (GRCm39) missense probably damaging 1.00
X0060:Mrpl22 UTSW 11 58,070,176 (GRCm39) missense probably damaging 0.99
Z1186:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Z1187:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Z1188:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Z1189:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Z1190:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Z1191:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Z1192:Mrpl22 UTSW 11 58,062,521 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCAAATTTGTCTAAAGACTCCCTAG -3'
(R):5'- ACCGTGTCACGATATGTTTAGTG -3'

Sequencing Primer
(F):5'- TGTCTAAAGACTCCCTAGAATCTTTG -3'
(R):5'- CTTGATAACCTGCGGGTCACTG -3'
Posted On 2018-07-23