Incidental Mutation 'R5814:Rpsa'
ID 447692
Institutional Source Beutler Lab
Gene Symbol Rpsa
Ensembl Gene ENSMUSG00000032518
Gene Name ribosomal protein SA
Synonyms P40-3, Lamrl1, Lamr1, Lamr, P40-8, 67lr
MMRRC Submission 043396-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5814 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119956832-119961435 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 119957551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035105] [ENSMUST00000035106] [ENSMUST00000144768] [ENSMUST00000217356] [ENSMUST00000217317] [ENSMUST00000217352]
AlphaFold P14206
Predicted Effect probably benign
Transcript: ENSMUST00000035105
SMART Domains Protein: ENSMUSP00000035105
Gene: ENSMUSG00000032518

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: ENSMUST00000035106
SMART Domains Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519

DomainStartEndE-ValueType
Pfam:Mito_carr 44 139 4.1e-23 PFAM
Pfam:Mito_carr 139 229 2.5e-19 PFAM
Pfam:Mito_carr 237 326 4.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083107
Predicted Effect probably benign
Transcript: ENSMUST00000144768
SMART Domains Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 1.2e-16 PFAM
low complexity region 163 182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214963
Predicted Effect probably benign
Transcript: ENSMUST00000217356
Predicted Effect probably benign
Transcript: ENSMUST00000217317
Predicted Effect probably benign
Transcript: ENSMUST00000217352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216813
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 91% (52/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,811 (GRCm39) D135G probably benign Het
Arrdc3 G T 13: 81,038,698 (GRCm39) R220L possibly damaging Het
Bace1 A G 9: 45,771,562 (GRCm39) D458G probably damaging Het
Cacna1s A G 1: 136,034,880 (GRCm39) Y1360C probably benign Het
Ccnb1-ps T C 7: 41,756,522 (GRCm39) noncoding transcript Het
Cd209b T C 8: 3,973,348 (GRCm39) E112G probably damaging Het
Cit T A 5: 116,117,478 (GRCm39) L1176Q probably damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Clvs2 G T 10: 33,404,503 (GRCm39) Q238K probably benign Het
Creb3l3 C T 10: 80,921,496 (GRCm39) V350M probably benign Het
Crot A C 5: 9,023,996 (GRCm39) D373E probably damaging Het
Cyp4a12b T A 4: 115,289,694 (GRCm39) I187N probably damaging Het
Degs1l G A 1: 180,882,663 (GRCm39) V142I probably damaging Het
Dnhd1 C A 7: 105,369,102 (GRCm39) A4291D possibly damaging Het
Dnmt3b A T 2: 153,514,417 (GRCm39) E403D probably benign Het
Ect2l A T 10: 18,075,757 (GRCm39) I43K probably damaging Het
Efcab3 T A 11: 104,626,940 (GRCm39) probably benign Het
Ep400 C A 5: 110,843,444 (GRCm39) probably null Het
Erp27 A T 6: 136,888,564 (GRCm39) V138E possibly damaging Het
Gbp4 G A 5: 105,267,785 (GRCm39) A487V probably benign Het
Gm10142 C A 10: 77,551,957 (GRCm39) T106N probably damaging Het
Gxylt2 C A 6: 100,710,196 (GRCm39) H112Q probably damaging Het
Hexim2 G A 11: 103,029,209 (GRCm39) R87Q probably damaging Het
Hgf A G 5: 16,807,305 (GRCm39) N399S probably benign Het
Ikbke T A 1: 131,199,516 (GRCm39) I302F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm1b A G 13: 47,216,622 (GRCm39) probably null Het
Krtap19-9a T C 16: 88,721,002 (GRCm39) noncoding transcript Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mmp10 G A 9: 7,503,621 (GRCm39) A164T possibly damaging Het
Myrip G A 9: 120,253,734 (GRCm39) G269D probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Paxbp1 G T 16: 90,827,384 (GRCm39) R420S probably damaging Het
Pcbp2 T A 15: 102,391,597 (GRCm39) S38R probably damaging Het
Pcf11 A G 7: 92,306,922 (GRCm39) V1082A probably benign Het
Pkhd1 T C 1: 20,269,629 (GRCm39) E3305G probably damaging Het
Pla2g4c T A 7: 13,074,543 (GRCm39) W250R probably damaging Het
Prune2 A G 19: 16,993,725 (GRCm39) probably null Het
Sema3e A G 5: 14,275,680 (GRCm39) I262V probably benign Het
Setd2 T A 9: 110,396,826 (GRCm39) L1663* probably null Het
Sh3d19 G A 3: 86,033,911 (GRCm39) V755I probably benign Het
Spag9 T A 11: 93,973,654 (GRCm39) V14E possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sspo A T 6: 48,428,818 (GRCm39) Q411L probably damaging Het
Sycp1 A C 3: 102,803,213 (GRCm39) S532R probably benign Het
Taf6l C A 19: 8,752,210 (GRCm39) A493S probably benign Het
Tsnaxip1 A G 8: 106,570,603 (GRCm39) D574G probably benign Het
Ttll10 T A 4: 156,132,084 (GRCm39) K117N possibly damaging Het
Uqcc5 A G 14: 30,846,477 (GRCm39) probably null Het
Utp4 T A 8: 107,638,907 (GRCm39) I405K probably damaging Het
Vmn2r45 T A 7: 8,474,475 (GRCm39) Y851F probably benign Het
Vps33a T C 5: 123,703,119 (GRCm39) D168G probably damaging 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
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
RF012:Rpsa UTSW 9 119,960,105 (GRCm39) missense probably benign 0.01
Z1176:Rpsa UTSW 9 119,959,412 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-12-15