Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:Rpl5'

22828

Institutional Source

Beutler Lab

Gene Symbol

Rpl5

Ensembl Gene

ENSMUSG00000058558

Gene Name

ribosomal protein L5

Synonyms

U21RNA, Skax23, Ska23, Ska

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0153 (G1)

Quality Score

208

Status

Validated (trace)

Chromosome

Chromosomal Location

108048388-108056871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108052623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 140 (F140L)

Ref Sequence

ENSEMBL: ENSMUSP00000123474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000153590] [ENSMUST00000145239]

AlphaFold

P47962

Predicted Effect

probably benign
Transcript: ENSMUST00000031198

SMART Domains

Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270

Domain	Start	End	E-Value	Type
PIP49_N	19	177	1.7e-92	SMART
Pfam:PIP49_C	194	396	1.9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082223
AA Change: F190L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080854
Gene: ENSMUSG00000058558
AA Change: F190L

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
Pfam:Ribosomal_L18p	26	173	2.1e-46	PFAM
Pfam:Ribosomal_L18_c	192	283	2.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129944

Predicted Effect

probably benign
Transcript: ENSMUST00000153590
AA Change: F140L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123474
Gene: ENSMUSG00000058558
AA Change: F140L

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18p	1	123	6.3e-37	PFAM
Pfam:Ribosomal_L18_c	142	163	2.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140659

Predicted Effect

probably benign
Transcript: ENSMUST00000145239

SMART Domains

Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270

Domain	Start	End	E-Value	Type
PIP49_N	1	132	1.18e-45	SMART
Pfam:PIP49_C	149	284	2e-43	PFAM

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
BC024139	T	C	15: 76,005,947 (GRCm39)	E418G	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,368,176 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,196,256 (GRCm39)	V497A	probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Garin5b	A	T	7: 4,773,286 (GRCm39)	L177Q	probably damaging	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Pkp3	A	G	7: 140,663,256 (GRCm39)	Y367C	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sec24a	A	C	11: 51,591,653 (GRCm39)	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	probably benign	Het

Other mutations in Rpl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rpl5	APN	5	108,055,145 (GRCm39)	critical splice donor site	probably null
IGL01694:Rpl5	APN	5	108,055,106 (GRCm39)	missense	probably benign	0.00
PIT4142001:Rpl5	UTSW	5	108,055,049 (GRCm39)	unclassified	probably benign
R0070:Rpl5	UTSW	5	108,049,766 (GRCm39)	missense	probably benign	0.13
R3877:Rpl5	UTSW	5	108,051,667 (GRCm39)	missense	probably benign	0.14
R4502:Rpl5	UTSW	5	108,052,723 (GRCm39)	missense	possibly damaging	0.92
R4503:Rpl5	UTSW	5	108,052,723 (GRCm39)	missense	possibly damaging	0.92
R5654:Rpl5	UTSW	5	108,051,514 (GRCm39)	intron	probably benign
R6955:Rpl5	UTSW	5	108,049,912 (GRCm39)	missense	probably benign	0.01
R9536:Rpl5	UTSW	5	108,051,721 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGCTGCCAATGATGACACCAC -3'
(R):5'- AGGCAATGCAGGAACCATTCCTAC -3'

Sequencing Primer
(F):5'- AACTGAGCAGTTAGTAGTTGGTCC -3'
(R):5'- CCTACTACAGGGAGACTTTAAATGC -3'

Posted On

2013-04-16