Incidental Mutation 'RF012:Rpsa'
ID 603277
Institutional Source Beutler Lab
Gene Symbol Rpsa
Ensembl Gene ENSMUSG00000032518
Gene Name ribosomal protein SA
Synonyms P40-3, Lamrl1, Lamr1, Lamr, P40-8, 67lr
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF012 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 119956832-119961435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119960105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 223 (T223A)
Ref Sequence ENSEMBL: ENSMUSP00000035105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035105] [ENSMUST00000217317] [ENSMUST00000217352] [ENSMUST00000217356]
AlphaFold P14206
Predicted Effect probably benign
Transcript: ENSMUST00000035105
AA Change: T223A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000035105
Gene: ENSMUSG00000032518
AA Change: T223A

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 probably benign
Transcript: ENSMUST00000217317
AA Change: T223A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000217352
Predicted Effect probably benign
Transcript: ENSMUST00000217356
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 89% (56/63)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,453,552 (GRCm39) L123Q probably damaging Het
AI837181 GCG GCGTCG 19: 5,475,255 (GRCm39) probably benign Het
Akr1e1 T A 13: 4,645,125 (GRCm39) N242I probably damaging Het
Ankrd7 G C 6: 18,869,274 (GRCm39) E194Q possibly damaging Het
Ano3 A G 2: 110,527,868 (GRCm39) F517L possibly damaging Het
Arhgef4 CAAA C 1: 34,763,565 (GRCm39) probably benign Het
Arid1a AGACGACGA AGACGA 4: 133,480,131 (GRCm39) probably benign Het
Atp2c2 G T 8: 120,472,253 (GRCm39) A436S possibly damaging Het
BC004004 T A 17: 29,501,782 (GRCm39) V107E probably benign Het
Begain CGCCGC CGCCGCAGCCGC 12: 108,999,353 (GRCm39) probably benign Het
Cad GT G 5: 31,217,556 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,112,909 (GRCm39) T122S probably benign Het
Clic6 A G 16: 92,327,697 (GRCm39) S501G possibly damaging Het
Col6a3 A C 1: 90,738,282 (GRCm39) L1079R probably damaging Het
Coro2a T C 4: 46,542,336 (GRCm39) K346E probably damaging Het
Ctsf A G 19: 4,908,694 (GRCm39) N325D probably benign Het
Dchs2 A G 3: 83,262,375 (GRCm39) E2881G probably benign Het
Dnah14 A G 1: 181,455,463 (GRCm39) T863A probably damaging Het
Dnai2 A T 11: 114,641,242 (GRCm39) I356F probably damaging Het
Dusp4 ACGGCGGCGGCGGC ACGGCGGCGGC 8: 35,274,953 (GRCm39) probably benign Het
Efhb T C 17: 53,720,545 (GRCm39) N647D probably damaging Het
Efhd2 CCG CCGACGGCG 4: 141,602,079 (GRCm39) probably benign Het
Eif3i A G 4: 129,485,872 (GRCm39) Y318H probably damaging Het
Fbxl5 T C 5: 43,930,847 (GRCm39) H80R probably damaging Het
Gab3 TCT TCTGCT X: 74,043,626 (GRCm39) probably benign Het
Gne G T 4: 44,060,045 (GRCm39) A147D probably damaging Het
Gpi1 A T 7: 33,901,902 (GRCm39) H538Q probably damaging Het
Itih2 T C 2: 10,122,214 (GRCm39) H229R possibly damaging Het
Kdm7a A G 6: 39,183,447 (GRCm39) V41A probably damaging Het
Krtap28-10 GCCACA GCCACACCCACA 1: 83,019,857 (GRCm39) probably benign Het
Lipa A T 19: 34,486,498 (GRCm39) S141R probably damaging Het
Medag G T 5: 149,335,459 (GRCm39) C6F probably benign Het
Nefh GGCCTCT GGCCTCTCCTGGGGACTTTGCCTCT 11: 4,891,055 (GRCm39) probably benign Het
Nefh GGGACTTGGCCTCACCTGGGGACTTGGCCTC GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,030 (GRCm39) probably benign Het
Nefh GACTTGGCCTCACCTGGG GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG 11: 4,891,032 (GRCm39) probably benign Het
Opa1 A G 16: 29,432,784 (GRCm39) I482M probably damaging Het
Or12e14 A T 2: 87,677,103 (GRCm39) I163L probably benign Het
Pgf T C 12: 85,216,316 (GRCm39) probably null Het
Pkhd1l1 TTTT TTTTTTTTTTTATTT 15: 44,421,901 (GRCm39) probably benign Het
Pou2f1 G A 1: 165,740,800 (GRCm39) T134I unknown Het
Pramel32 T A 4: 88,546,006 (GRCm39) R445S probably damaging Het
Prss52 A G 14: 64,350,922 (GRCm39) S236G probably damaging Het
Shprh A G 10: 11,040,585 (GRCm39) N686S probably benign Het
Six3 CGG CGGTGG 17: 85,928,796 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Slc22a27 C T 19: 7,903,949 (GRCm39) G63S probably benign Het
Tmcc2 G T 1: 132,288,756 (GRCm39) N310K probably damaging Het
Tmem144 A T 3: 79,729,961 (GRCm39) L263Q probably damaging Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Troap T C 15: 98,973,281 (GRCm39) S16P probably benign Het
Ttn T C 2: 76,543,915 (GRCm39) T33024A probably benign Het
Usp2 A ACATGTGACCTGTTCTTCACTTACT 9: 44,000,427 (GRCm39) probably benign Het
Was CTCCTCCT C X: 7,952,470 (GRCm39) probably null Het
Zfp672 A G 11: 58,206,938 (GRCm39) V461A probably benign Het
Other mutations in Rpsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02503:Rpsa APN 9 119,957,659 (GRCm39) missense possibly damaging 0.57
IGL02522:Rpsa APN 9 119,960,121 (GRCm39) missense possibly damaging 0.47
PIT4515001:Rpsa UTSW 9 119,960,214 (GRCm39) missense probably benign 0.04
R0281:Rpsa UTSW 9 119,960,069 (GRCm39) missense possibly damaging 0.81
R1511:Rpsa UTSW 9 119,960,066 (GRCm39) missense possibly damaging 0.64
R4942:Rpsa UTSW 9 119,960,129 (GRCm39) missense probably benign 0.04
R5814:Rpsa UTSW 9 119,957,551 (GRCm39) start gained probably benign
R6122:Rpsa UTSW 9 119,960,102 (GRCm39) missense probably benign 0.01
R6545:Rpsa UTSW 9 119,959,323 (GRCm39) missense probably benign 0.11
R7225:Rpsa UTSW 9 119,960,222 (GRCm39) missense probably benign 0.00
R8554:Rpsa UTSW 9 119,958,317 (GRCm39) missense possibly damaging 0.80
Z1176:Rpsa UTSW 9 119,959,412 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTACTATCTCCCGTGAGC -3'
(R):5'- AAGCTTCGCCAATCTCTCAC -3'

Sequencing Primer
(F):5'- ACCCCTGGGAGGTCATG -3'
(R):5'- TTCGCCAATCTCTCACAACCC -3'
Posted On 2019-12-04