Incidental Mutation 'PIT4515001:Rpsa'
ID 556330
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 # PIT4515001 (G1)
Quality Score 193.009
Status Not validated
Chromosome 9
Chromosomal Location 119956832-119961435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119960214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 259 (I259N)
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: I259N

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000035105
Gene: ENSMUSG00000032518
AA Change: I259N

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: I259N

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217352
Predicted Effect probably benign
Transcript: ENSMUST00000217356
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 86.0%
  • 20x: 75.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,068 (GRCm39) R966* probably null Het
Adam32 A T 8: 25,404,342 (GRCm39) I221K possibly damaging Het
Adcy6 T C 15: 98,493,027 (GRCm39) T880A probably benign Het
Agpat5 T A 8: 18,896,657 (GRCm39) Y28N probably damaging Het
Atg2a A G 19: 6,303,615 (GRCm39) I1125V probably damaging Het
B4galt6 A G 18: 20,821,524 (GRCm39) Y335H probably benign Het
Bend3 A T 10: 43,386,630 (GRCm39) E341V probably damaging Het
Bltp1 T A 3: 37,028,385 (GRCm39) Y2351N probably damaging Het
Ccdc136 T A 6: 29,417,225 (GRCm39) V682E probably benign Het
Ccdc142 T C 6: 83,080,238 (GRCm39) C394R probably benign Het
Cfap58 A G 19: 48,023,122 (GRCm39) N845D probably benign Het
Col4a3 G A 1: 82,660,024 (GRCm39) G890R unknown Het
Cyp1a2 C A 9: 57,589,242 (GRCm39) V191L probably benign Het
Cyp51 A T 5: 4,149,122 (GRCm39) probably null Het
Diras2 T C 13: 52,661,783 (GRCm39) S175G possibly damaging Het
Dnah6 A G 6: 73,091,565 (GRCm39) F2242S probably damaging Het
Erg T A 16: 95,210,619 (GRCm39) N78Y probably benign Het
Fdft1 T A 14: 63,402,032 (GRCm39) Q49L probably benign Het
Frem1 G T 4: 82,818,663 (GRCm39) H2183Q probably damaging Het
Fut2 G A 7: 45,299,890 (GRCm39) T294I probably damaging Het
Gabrb1 A C 5: 71,858,160 (GRCm39) D62A probably damaging Het
Gbe1 T A 16: 70,238,004 (GRCm39) Y263* probably null Het
Gimap6 T C 6: 48,679,502 (GRCm39) D178G probably benign Het
Gss T A 2: 155,420,261 (GRCm39) T147S probably damaging Het
Hlcs A T 16: 94,068,275 (GRCm39) V315E probably benign Het
Hoxa3 C T 6: 52,147,164 (GRCm39) G363E unknown Het
Ift140 A G 17: 25,305,834 (GRCm39) N807S probably damaging Het
Iglc1 T G 16: 18,880,701 (GRCm39) D40A Het
Itga10 T A 3: 96,569,948 (GRCm39) I1120N probably damaging Het
Jak3 T C 8: 72,132,286 (GRCm39) V217A probably benign Het
Kank2 T G 9: 21,706,179 (GRCm39) I280L probably benign Het
Kcnk1 G T 8: 126,752,081 (GRCm39) G229V probably damaging Het
Kpna7 T C 5: 144,941,862 (GRCm39) T143A probably benign Het
Letmd1 C T 15: 100,374,683 (GRCm39) R310C probably damaging Het
Mga G A 2: 119,746,985 (GRCm39) V379I probably damaging Het
Mto1 T A 9: 78,364,699 (GRCm39) Y313N probably damaging Het
Muc5ac G A 7: 141,361,153 (GRCm39) C1488Y probably damaging Het
Nde1 T A 16: 13,988,357 (GRCm39) probably null Het
Nfatc3 T C 8: 106,805,835 (GRCm39) S235P possibly damaging Het
Nup88 T C 11: 70,835,547 (GRCm39) D602G probably benign Het
Or11g25 T A 14: 50,723,536 (GRCm39) M207K probably benign Het
Or2h1b A C 17: 37,462,270 (GRCm39) S198A probably benign Het
Pcnx1 G A 12: 82,038,561 (GRCm39) C1309Y Het
Phldb1 A G 9: 44,627,257 (GRCm39) I396T probably benign Het
Pramel38 T C 5: 94,368,831 (GRCm39) M442T probably benign Het
Pramel41 A C 5: 94,594,694 (GRCm39) K185Q probably benign Het
Prss53 G A 7: 127,487,963 (GRCm39) T173I probably benign Het
Ptpn11 C A 5: 121,302,617 (GRCm39) D156Y probably damaging Het
Rfx8 A G 1: 39,729,265 (GRCm39) Y167H probably benign Het
Rrm2b G T 15: 37,947,048 (GRCm39) D84E probably benign Het
Scgb2b19 A T 7: 32,979,036 (GRCm39) probably null Het
Sik3 T C 9: 46,120,029 (GRCm39) L706P probably damaging Het
Slc4a4 A T 5: 89,281,112 (GRCm39) E426D probably damaging Het
Slc8a2 C A 7: 15,874,504 (GRCm39) L251I possibly damaging Het
Taf6 T C 5: 138,180,504 (GRCm39) K287E probably benign Het
Tiam1 G A 16: 89,657,130 (GRCm39) T702I probably damaging Het
Tle1 A T 4: 72,117,556 (GRCm39) F35I possibly damaging Het
Tle2 A G 10: 81,422,964 (GRCm39) Q454R possibly damaging Het
Tsc2 T C 17: 24,840,121 (GRCm39) N425S probably benign Het
Utp3 A G 5: 88,702,564 (GRCm39) D31G probably benign Het
Vmn1r173 A T 7: 23,401,911 (GRCm39) R49* probably null Het
Ybx2 T A 11: 69,831,224 (GRCm39) V273E probably benign Het
Zbtb22 G A 17: 34,137,672 (GRCm39) A606T probably benign Het
Zcchc8 A T 5: 123,838,995 (GRCm39) D514E probably benign Het
Zfy2 T A Y: 2,117,096 (GRCm39) I244F probably benign Het
Zglp1 T C 9: 20,977,485 (GRCm39) N110S 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
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
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 PCR Primer
(F):5'- CAGACCTTGGTTCTGGTTCAG -3'
(R):5'- ATTACCCCAAGAGCAGTGTCAAG -3'

Sequencing Primer
(F):5'- GTTCAGTGAAGCTAATTTTGTCCC -3'
(R):5'- TGTCAAGACACAGTGTATCCAC -3'
Posted On 2019-06-07