Incidental Mutation 'IGL01517:Mrpl2'
ID 90446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl2
Ensembl Gene ENSMUSG00000002767
Gene Name mitochondrial ribosomal protein L2
Synonyms CGI-22, MRP-L14, Rpml14
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # IGL01517
Quality Score
Status
Chromosome 17
Chromosomal Location 46957155-46961065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46960909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 268 (R268G)
Ref Sequence ENSEMBL: ENSMUSP00000109057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000003642] [ENSMUST00000043464] [ENSMUST00000113429] [ENSMUST00000113430] [ENSMUST00000133393] [ENSMUST00000145567]
AlphaFold Q9D773
Predicted Effect probably damaging
Transcript: ENSMUST00000002844
AA Change: R270G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767
AA Change: R270G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Ribosomal_L2 84 166 3.44e-29 SMART
Ribosomal_L2_C 177 298 1.32e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000003642
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546

DomainStartEndE-ValueType
coiled coil region 90 155 N/A INTRINSIC
low complexity region 194 204 N/A INTRINSIC
Pfam:TPR_10 210 251 9.4e-9 PFAM
TPR 253 286 3.32e-1 SMART
TPR 295 328 7.16e-6 SMART
TPR 337 370 4.21e-3 SMART
TPR 379 412 9.03e-3 SMART
low complexity region 429 443 N/A INTRINSIC
TPR 464 497 9.99e1 SMART
low complexity region 609 619 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043464
SMART Domains Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 218 229 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
Pfam:Cul7 349 423 5.7e-34 PFAM
low complexity region 462 476 N/A INTRINSIC
low complexity region 603 618 N/A INTRINSIC
low complexity region 635 648 N/A INTRINSIC
APC10 811 973 9.35e-49 SMART
low complexity region 983 993 N/A INTRINSIC
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1301 1318 N/A INTRINSIC
low complexity region 1335 1370 N/A INTRINSIC
Blast:Cullin_Nedd8 1550 1633 1e-41 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113429
SMART Domains Protein: ENSMUSP00000109056
Gene: ENSMUSG00000002767

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_L2 84 166 1.1e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113430
AA Change: R268G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109057
Gene: ENSMUSG00000002767
AA Change: R268G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_L2 82 164 1.6e-31 PFAM
Pfam:Ribosomal_L2_C 175 279 5.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146183
Predicted Effect probably benign
Transcript: ENSMUST00000133393
SMART Domains Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
Pfam:Cul7 51 126 8e-34 PFAM
low complexity region 164 178 N/A INTRINSIC
low complexity region 305 320 N/A INTRINSIC
low complexity region 337 350 N/A INTRINSIC
SCOP:d1gqpa_ 487 568 1e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145567
SMART Domains Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
SCOP:d1jdha_ 63 222 2e-4 SMART
low complexity region 315 324 N/A INTRINSIC
Pfam:Cul7 349 424 9.5e-34 PFAM
low complexity region 462 476 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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 EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,526,700 (GRCm39) probably benign Het
Arpc1b A G 5: 145,064,679 (GRCm39) probably benign Het
Ccdc54 G A 16: 50,410,280 (GRCm39) L329F possibly damaging Het
Cdc42bpg G A 19: 6,368,467 (GRCm39) R1055H probably damaging Het
Cylc1 A G X: 110,162,799 (GRCm39) T29A possibly damaging Het
Ddx50 T C 10: 62,482,911 (GRCm39) T53A probably benign Het
Dmap1 G A 4: 117,533,206 (GRCm39) R283C probably damaging Het
Extl3 A T 14: 65,314,156 (GRCm39) L342H probably damaging Het
Gjb3 A C 4: 127,219,914 (GRCm39) I206S probably damaging Het
Gphn T A 12: 78,423,148 (GRCm39) I53K probably damaging Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Inpp5b T A 4: 124,676,229 (GRCm39) C362S probably benign Het
Iqgap3 C A 3: 88,016,703 (GRCm39) Q1062K probably benign Het
Kdm2a A G 19: 4,412,089 (GRCm39) probably benign Het
Ltbp3 A G 19: 5,807,760 (GRCm39) D1167G possibly damaging Het
Mpo A G 11: 87,686,647 (GRCm39) N65D possibly damaging Het
Nfkbia C T 12: 55,537,430 (GRCm39) A220T probably damaging Het
Nlrc3 T A 16: 3,765,351 (GRCm39) I1091F probably damaging Het
Notch2 T A 3: 98,045,971 (GRCm39) S1674R probably benign Het
Or10h28 T A 17: 33,488,629 (GRCm39) N310K probably benign Het
Or14a257 T C 7: 86,138,765 (GRCm39) probably benign Het
Pde8b A G 13: 95,237,395 (GRCm39) probably null Het
Pla2r1 A G 2: 60,334,597 (GRCm39) Y392H probably damaging Het
Plekhm1 A T 11: 103,285,609 (GRCm39) N275K possibly damaging Het
Prdm16 T C 4: 154,412,882 (GRCm39) H1041R probably damaging Het
Rapsn C A 2: 90,866,963 (GRCm39) N88K probably damaging Het
Rasef T A 4: 73,688,059 (GRCm39) Q31H probably benign Het
Rpl28-ps4 T C 6: 117,190,813 (GRCm39) noncoding transcript Het
Trpc7 T C 13: 57,008,878 (GRCm39) Y263C probably damaging Het
Ttn T C 2: 76,577,940 (GRCm39) T24318A probably damaging Het
Vmn1r35 T C 6: 66,656,434 (GRCm39) T79A probably benign Het
Vmn2r100 T A 17: 19,742,225 (GRCm39) S200T probably benign Het
Wnt9b A G 11: 103,621,907 (GRCm39) V250A probably benign Het
Zyg11a T A 4: 108,058,391 (GRCm39) K383M probably null Het
Other mutations in Mrpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Mrpl2 APN 17 46,959,183 (GRCm39) missense probably damaging 1.00
IGL02292:Mrpl2 APN 17 46,959,157 (GRCm39) unclassified probably benign
IGL03177:Mrpl2 APN 17 46,959,963 (GRCm39) missense probably damaging 0.99
IGL03326:Mrpl2 APN 17 46,960,853 (GRCm39) missense possibly damaging 0.78
R1620:Mrpl2 UTSW 17 46,958,425 (GRCm39) missense probably benign 0.28
R2567:Mrpl2 UTSW 17 46,958,427 (GRCm39) missense probably benign 0.17
R4573:Mrpl2 UTSW 17 46,959,967 (GRCm39) missense possibly damaging 0.89
R5102:Mrpl2 UTSW 17 46,960,964 (GRCm39) missense probably benign 0.11
R5103:Mrpl2 UTSW 17 46,960,964 (GRCm39) missense probably benign 0.11
R5283:Mrpl2 UTSW 17 46,959,992 (GRCm39) missense possibly damaging 0.83
R5405:Mrpl2 UTSW 17 46,960,036 (GRCm39) critical splice donor site probably null
R6199:Mrpl2 UTSW 17 46,960,012 (GRCm39) missense probably damaging 1.00
R6225:Mrpl2 UTSW 17 46,960,835 (GRCm39) missense probably damaging 0.98
R6232:Mrpl2 UTSW 17 46,958,356 (GRCm39) missense probably benign 0.01
R6841:Mrpl2 UTSW 17 46,958,382 (GRCm39) missense probably benign 0.31
R7170:Mrpl2 UTSW 17 46,959,181 (GRCm39) missense probably damaging 1.00
R7784:Mrpl2 UTSW 17 46,959,517 (GRCm39) splice site probably null
R7831:Mrpl2 UTSW 17 46,959,598 (GRCm39) missense possibly damaging 0.93
R8284:Mrpl2 UTSW 17 46,958,435 (GRCm39) nonsense probably null
R8938:Mrpl2 UTSW 17 46,957,238 (GRCm39) unclassified probably benign
R9510:Mrpl2 UTSW 17 46,958,440 (GRCm39) missense probably benign 0.19
X0018:Mrpl2 UTSW 17 46,959,277 (GRCm39) missense probably damaging 1.00
Z1088:Mrpl2 UTSW 17 46,958,404 (GRCm39) missense probably null 0.14
Posted On 2013-12-09