Incidental Mutation 'IGL02037:Rplp0'
ID 184546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rplp0
Ensembl Gene ENSMUSG00000067274
Gene Name ribosomal protein lateral stalk subunit P0
Synonyms Arbp, 36B4
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL02037
Quality Score
Status
Chromosome 5
Chromosomal Location 115697526-115701786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115699174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 73 (R73Q)
Ref Sequence ENSEMBL: ENSMUSP00000138289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064454] [ENSMUST00000086519] [ENSMUST00000152976] [ENSMUST00000156359]
AlphaFold P14869
Predicted Effect probably benign
Transcript: ENSMUST00000064454
SMART Domains Protein: ENSMUSP00000069432
Gene: ENSMUSG00000041638

DomainStartEndE-ValueType
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 117 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
Pfam:DUF3554 357 705 2e-61 PFAM
coiled coil region 806 866 N/A INTRINSIC
Blast:ARM 1028 1068 6e-11 BLAST
coiled coil region 1180 1203 N/A INTRINSIC
low complexity region 1457 1466 N/A INTRINSIC
low complexity region 1501 1510 N/A INTRINSIC
ARM 1527 1567 3.69e1 SMART
Blast:ARM 1602 1644 1e-5 BLAST
Blast:EZ_HEAT 1671 1704 1e-7 BLAST
low complexity region 1926 1934 N/A INTRINSIC
low complexity region 1956 1972 N/A INTRINSIC
ARM 2034 2070 9.27e1 SMART
low complexity region 2326 2334 N/A INTRINSIC
ARM 2416 2455 2.16e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086519
AA Change: R112Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083705
Gene: ENSMUSG00000067274
AA Change: R112Q

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 5 106 2e-23 PFAM
low complexity region 109 117 N/A INTRINSIC
Pfam:Ribosomal_60s 231 316 2.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141472
Predicted Effect probably benign
Transcript: ENSMUST00000152976
AA Change: R112Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114332
Gene: ENSMUSG00000067274
AA Change: R112Q

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 5 106 7.2e-27 PFAM
low complexity region 109 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156359
AA Change: R73Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138289
Gene: ENSMUSG00000067274
AA Change: R73Q

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 1 67 1.1e-16 PFAM
low complexity region 70 78 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202584
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 protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Cbfb T C 8: 105,905,252 (GRCm39) S65P possibly damaging Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Fn3k A T 11: 121,325,909 (GRCm39) Y32F probably benign Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Klra6 A C 6: 129,990,439 (GRCm39) M224R probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Or5al7 G T 2: 85,993,181 (GRCm39) F37L probably benign Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Ube3a C T 7: 58,925,506 (GRCm39) probably benign Het
Usp11 T C X: 20,585,381 (GRCm39) I785T probably damaging Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Rplp0
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0494:Rplp0 UTSW 5 115,697,931 (GRCm39) missense possibly damaging 0.90
R1471:Rplp0 UTSW 5 115,701,403 (GRCm39) missense probably damaging 0.96
R1776:Rplp0 UTSW 5 115,700,524 (GRCm39) missense probably benign 0.30
R1872:Rplp0 UTSW 5 115,701,374 (GRCm39) missense possibly damaging 0.92
R2088:Rplp0 UTSW 5 115,700,562 (GRCm39) missense possibly damaging 0.89
R4629:Rplp0 UTSW 5 115,699,482 (GRCm39) splice site probably null
R5899:Rplp0 UTSW 5 115,699,489 (GRCm39) missense probably benign
R6171:Rplp0 UTSW 5 115,699,219 (GRCm39) missense probably benign 0.00
R8020:Rplp0 UTSW 5 115,698,903 (GRCm39) missense probably benign 0.25
R8411:Rplp0 UTSW 5 115,698,823 (GRCm39) missense probably damaging 1.00
R9767:Rplp0 UTSW 5 115,699,563 (GRCm39) missense probably benign 0.01
X0066:Rplp0 UTSW 5 115,700,587 (GRCm39) missense probably damaging 0.97
Posted On 2014-05-07