Incidental Mutation 'IGL01679:Rplp2'
ID 103726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rplp2
Ensembl Gene ENSMUSG00000025508
Gene Name ribosomal protein lateral stalk subunit P2
Synonyms 2700049I22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # IGL01679
Quality Score
Status
Chromosome 7
Chromosomal Location 141027564-141031272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 141028679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 55 (I55S)
Ref Sequence ENSEMBL: ENSMUSP00000101626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026580] [ENSMUST00000084434] [ENSMUST00000106003] [ENSMUST00000106004]
AlphaFold P99027
Predicted Effect probably benign
Transcript: ENSMUST00000026580
SMART Domains Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 150 1.66e1 SMART
LRR 152 174 9.48e0 SMART
LRR 175 197 1.81e1 SMART
LRR 198 220 5.56e0 SMART
LRR 221 243 8.67e-1 SMART
LRR 244 266 7.57e0 SMART
LRR 267 290 6.13e-1 SMART
low complexity region 303 311 N/A INTRINSIC
low complexity region 406 419 N/A INTRINSIC
Pfam:Peptidase_S68 426 459 3.5e-26 PFAM
Pfam:ZU5 463 551 5e-9 PFAM
low complexity region 563 574 N/A INTRINSIC
low complexity region 734 744 N/A INTRINSIC
DEATH 783 878 8.31e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082732
Predicted Effect probably damaging
Transcript: ENSMUST00000084434
AA Change: I55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081474
Gene: ENSMUSG00000025508
AA Change: I55S

DomainStartEndE-ValueType
Pfam:Ribosomal_60s 17 114 1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106003
AA Change: I55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101625
Gene: ENSMUSG00000025508
AA Change: I55S

DomainStartEndE-ValueType
Pfam:Ribosomal_60s 17 114 1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106004
AA Change: I55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101626
Gene: ENSMUSG00000025508
AA Change: I55S

DomainStartEndE-ValueType
Pfam:Ribosomal_60s 17 114 2.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147268
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,248,071 (GRCm39) M2606K probably benign Het
Abl2 A G 1: 156,470,035 (GRCm39) I1100V probably benign Het
Atp2a1 T C 7: 126,055,981 (GRCm39) N280S probably benign Het
Car8 G A 4: 8,169,674 (GRCm39) T278I possibly damaging Het
Catsperb G A 12: 101,557,841 (GRCm39) probably null Het
Cfap47 A G X: 78,376,439 (GRCm39) Y266H probably damaging Het
Cilk1 T C 9: 78,047,307 (GRCm39) I69T possibly damaging Het
Cmya5 T C 13: 93,201,828 (GRCm39) E3378G probably damaging Het
Ctsq C T 13: 61,186,722 (GRCm39) G94D probably benign Het
Entpd8 A G 2: 24,974,378 (GRCm39) K388E probably benign Het
Gab1 C T 8: 81,518,178 (GRCm39) A145T probably benign Het
Gbp9 T C 5: 105,233,038 (GRCm39) probably null Het
Gm6685 T C 11: 28,289,586 (GRCm39) T77A possibly damaging Het
Miga2 A G 2: 30,268,262 (GRCm39) K387R probably benign Het
Myo1g A G 11: 6,468,006 (GRCm39) V143A possibly damaging Het
Pi4ka A G 16: 17,114,752 (GRCm39) probably benign Het
Plekhg6 T C 6: 125,351,942 (GRCm39) T201A probably benign Het
Pxdn T C 12: 30,049,901 (GRCm39) S650P probably damaging Het
Sdk1 A G 5: 142,031,919 (GRCm39) D998G probably benign Het
Slc13a2 C A 11: 78,295,537 (GRCm39) A110S probably damaging Het
Slc38a2 A T 15: 96,595,835 (GRCm39) Y94* probably null Het
Smarcc1 A G 9: 110,042,598 (GRCm39) R889G probably damaging Het
Tie1 T C 4: 118,339,936 (GRCm39) T364A probably benign Het
Zfp655 A G 5: 145,180,637 (GRCm39) E165G probably damaging Het
Other mutations in Rplp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1977:Rplp2 UTSW 7 141,028,694 (GRCm39) splice site probably benign
R5631:Rplp2 UTSW 7 141,031,172 (GRCm39) unclassified probably benign
Posted On 2014-01-21