Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02503:Rpsa'

296179

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02503

Quality Score

Status

Chromosome

Chromosomal Location

119956832-119961435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119957659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 35 (E35G)

Ref Sequence

ENSEMBL: ENSMUSP00000150804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035105] [ENSMUST00000035106] [ENSMUST00000144768] [ENSMUST00000217317] [ENSMUST00000217356] [ENSMUST00000217352]

AlphaFold

P14206

Predicted Effect

probably benign
Transcript: ENSMUST00000035105
AA Change: E35G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035105
Gene: ENSMUSG00000032518
AA Change: E35G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000216813

Predicted Effect

probably benign
Transcript: ENSMUST00000217317
AA Change: E35G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217356
AA Change: E35G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000217352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215568

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 56,008,962 (GRCm39)	W822R	probably damaging	Het
Ago4	A	T	4: 126,390,598 (GRCm39)	Y807*	probably null	Het
Alkbh8	G	A	9: 3,347,852 (GRCm39)	G215D	probably damaging	Het
Cfap57	C	T	4: 118,426,545 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Cyp4f17	T	C	17: 32,743,940 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,909,621 (GRCm39)	Y1411*	probably null	Het
Dmrtc1b	T	A	X: 101,758,366 (GRCm39)	S199T	possibly damaging	Het
Elk4	A	G	1: 131,942,277 (GRCm39)	N50D	probably damaging	Het
Filip1l	T	A	16: 57,391,938 (GRCm39)	V604E	probably benign	Het
Fmo3	A	T	1: 162,796,433 (GRCm39)	H46Q	probably benign	Het
Fndc1	T	A	17: 7,990,348 (GRCm39)	Y1116F	unknown	Het
Fpr-rs3	T	A	17: 20,844,817 (GRCm39)	N108I	probably damaging	Het
Glmn	A	T	5: 107,710,644 (GRCm39)	M316K	probably damaging	Het
Gm5591	C	A	7: 38,219,433 (GRCm39)	R480I	probably damaging	Het
Gm8122	G	T	14: 43,092,645 (GRCm39)	R39S	unknown	Het
Gprasp1	T	A	X: 134,703,279 (GRCm39)	Y1157*	probably null	Het
H2bc21	A	G	3: 96,128,539 (GRCm39)	T20A	probably benign	Het
Hsf1	T	C	15: 76,382,870 (GRCm39)	L370P	probably benign	Het
Iqsec1	T	A	6: 90,645,770 (GRCm39)	I809F	probably damaging	Het
Itsn1	G	T	16: 91,686,092 (GRCm39)	M54I	possibly damaging	Het
Klra2	T	C	6: 131,207,057 (GRCm39)	N184S	probably benign	Het
Lifr	T	A	15: 7,215,104 (GRCm39)	V737E	probably damaging	Het
Lrpprc	T	C	17: 85,033,767 (GRCm39)	T1037A	probably benign	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Megf8	T	C	7: 25,062,988 (GRCm39)	V2448A	possibly damaging	Het
Mthfd1l	T	A	10: 4,033,824 (GRCm39)	V737D	probably damaging	Het
Mtm1	A	G	X: 70,343,276 (GRCm39)	T386A	probably damaging	Het
Muc5b	T	C	7: 141,421,404 (GRCm39)	V4298A	probably benign	Het
Or10ag2	T	G	2: 87,248,636 (GRCm39)	F81L	probably benign	Het
Or5w18	A	T	2: 87,632,864 (GRCm39)	I44F	probably benign	Het
Or8k21	C	T	2: 86,144,983 (GRCm39)	G216R	possibly damaging	Het
Plch1	A	G	3: 63,605,285 (GRCm39)	S1531P	probably damaging	Het
Poc1b	T	A	10: 98,980,210 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,815,924 (GRCm39)	N1065K	probably benign	Het
Scfd1	T	A	12: 51,469,704 (GRCm39)	D416E	possibly damaging	Het
Sdad1	A	T	5: 92,449,661 (GRCm39)		probably benign	Het
Skor1	A	G	9: 63,053,397 (GRCm39)	S191P	probably damaging	Het
Slc28a2	T	C	2: 122,288,693 (GRCm39)	F600L	probably benign	Het
Tmem229b-ps	A	G	10: 53,351,250 (GRCm39)		noncoding transcript	Het
Top2b	A	G	14: 16,407,163 (GRCm38)	M678V	possibly damaging	Het
Ttn	T	C	2: 76,617,107 (GRCm39)	N8092S	probably damaging	Het
Ttn	C	T	2: 76,572,033 (GRCm39)	V26287I	probably damaging	Het
Tulp4	T	A	17: 6,263,666 (GRCm39)	I345N	probably damaging	Het
U2surp	C	T	9: 95,384,622 (GRCm39)	V21I	probably benign	Het
Ubr5	T	C	15: 38,018,564 (GRCm39)	T859A	possibly damaging	Het
Ubr5	T	C	15: 38,018,558 (GRCm39)	K861E	probably damaging	Het
Unc13d	A	G	11: 115,959,628 (GRCm39)	V617A	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,341 (GRCm39)	Y91C	probably damaging	Het
Vmn2r120	T	A	17: 57,816,385 (GRCm39)	I657F	probably benign	Het
Wwc2	T	C	8: 48,302,418 (GRCm39)	R931G	unknown	Het

Other mutations in Rpsa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16