Incidental Mutation 'IGL02522:Rpsa'
ID296927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpsa
Ensembl Gene ENSMUSG00000032518
Gene Nameribosomal protein SA
SynonymsLamr, P40-8, 67lr, Lamrl1, Lamr1, P40-3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02522
Quality Score
Status
Chromosome9
Chromosomal Location120127689-120132369 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120131055 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 228 (Q228L)
Ref Sequence ENSEMBL: ENSMUSP00000148933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035105] [ENSMUST00000217317] [ENSMUST00000217352] [ENSMUST00000217356]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035105
AA Change: Q228L

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035105
Gene: ENSMUSG00000032518
AA Change: Q228L

DomainStartEndE-ValueType
Pfam:Ribosomal_S2 18 118 3.7e-12 PFAM
Pfam:Ribosomal_S2 111 184 6.5e-14 PFAM
Pfam:40S_SA_C 202 295 2.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216813
Predicted Effect possibly damaging
Transcript: ENSMUST00000217317
AA Change: Q228L

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217352
Predicted Effect probably benign
Transcript: ENSMUST00000217356
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutants show right ventricular cardiomyocyte degeneration and higher susceptibility to arrhythmia. Homozygous null mice fail to develop past E3.5; heterozygotes show craniofacial defects, low mean corpuscular hemoglobin concentration and reduced insulin content in pancreatic islet cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A G 10: 79,067,799 S228P probably benign Het
Apba1 T C 19: 23,912,445 probably benign Het
Arel1 T C 12: 84,927,910 D486G probably damaging Het
BC030867 T C 11: 102,257,920 S386P possibly damaging Het
Celf1 T C 2: 91,009,301 V357A possibly damaging Het
Chd6 T C 2: 160,965,796 S1833G probably benign Het
Ctsa T C 2: 164,839,141 probably benign Het
Dclk2 G A 3: 86,920,116 P19S probably benign Het
Dpp10 T C 1: 123,423,652 H308R probably benign Het
Dst A T 1: 34,250,700 probably benign Het
Enpp2 A T 15: 54,898,940 M201K probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Grip1 A G 10: 119,931,249 D93G probably damaging Het
Hipk3 T C 2: 104,471,331 K172R probably damaging Het
Iqgap3 A G 3: 88,108,398 N29S possibly damaging Het
Lyst T C 13: 13,634,705 V320A possibly damaging Het
Magi1 T C 6: 93,678,636 D1127G possibly damaging Het
Pkhd1l1 A T 15: 44,555,902 D2921V possibly damaging Het
Pla2r1 T A 2: 60,428,669 Y1125F probably benign Het
Psg20 T A 7: 18,682,431 L253F probably benign Het
Rdx A G 9: 52,068,204 K209R possibly damaging Het
Slc10a5 T C 3: 10,335,121 I160V probably benign Het
Tec C T 5: 72,789,172 V71I probably benign Het
Tln1 T C 4: 43,540,612 E1463G probably benign Het
Trim12a C T 7: 104,300,831 probably null Het
Vcan G T 13: 89,704,849 T664K probably benign Het
Other mutations in Rpsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02503:Rpsa APN 9 120128593 missense possibly damaging 0.57
R0281:Rpsa UTSW 9 120131003 missense possibly damaging 0.81
R1511:Rpsa UTSW 9 120131000 missense possibly damaging 0.64
R4942:Rpsa UTSW 9 120131063 missense probably benign 0.04
R5814:Rpsa UTSW 9 120128485 start gained probably benign
R6122:Rpsa UTSW 9 120131036 missense probably benign 0.01
R6545:Rpsa UTSW 9 120130257 missense probably benign 0.11
Posted On2015-04-16