Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Rps2'

563646

Institutional Source

Beutler Lab

Gene Symbol

Rps2

Ensembl Gene

ENSMUSG00000044533

Gene Name

ribosomal protein S2

Synonyms

Rps2, Llrep3

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R7247 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

24939037-24940901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24939554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 75 (I75N)

Ref Sequence

ENSEMBL: ENSMUSP00000131474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008626] [ENSMUST00000045602] [ENSMUST00000054289] [ENSMUST00000135708] [ENSMUST00000146867] [ENSMUST00000152407] [ENSMUST00000170715]

AlphaFold

P25444

Predicted Effect

probably benign
Transcript: ENSMUST00000008626

SMART Domains

Protein: ENSMUSP00000008626
Gene: ENSMUSG00000008482

Domain	Start	End	E-Value	Type
RING	20	57	1.76e-5	SMART
Pfam:zf-TRAF	102	158	7.5e-9	PFAM
low complexity region	176	193	N/A	INTRINSIC
low complexity region	203	216	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045602

SMART Domains

Protein: ENSMUSP00000043543
Gene: ENSMUSG00000040048

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:NDUFB10	42	168	2.1e-52	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054289
AA Change: I75N

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533
AA Change: I75N

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	102	166	5.7e-34	PFAM
Pfam:Ribosomal_S5_C	185	256	2.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135708

SMART Domains

Protein: ENSMUSP00000120091
Gene: ENSMUSG00000040048

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:NDUFB10	54	149	7.1e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000146867
AA Change: I75N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533
AA Change: I75N

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	102	166	1.7e-35	PFAM
Pfam:Ribosomal_S5_C	185	256	8.3e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152407
AA Change: I75N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533
AA Change: I75N

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	101	167	9.2e-32	PFAM
Pfam:Ribosomal_S5_C	184	257	1.2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170715
AA Change: I75N

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533
AA Change: I75N

Domain	Start	End	E-Value	Type
low complexity region	6	53	N/A	INTRINSIC
Pfam:Ribosomal_S5	101	167	1.1e-31	PFAM
Pfam:Ribosomal_S5_C	184	257	1.3e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	Het

Other mutations in Rps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02836:Rps2	APN	17	24,939,650 (GRCm39)	missense	probably damaging	1.00
IGL02981:Rps2	APN	17	24,940,698 (GRCm39)	missense	probably benign	0.00
IGL03123:Rps2	APN	17	24,939,263 (GRCm39)	unclassified	probably benign
R2504:Rps2	UTSW	17	24,939,353 (GRCm39)	unclassified	probably benign
R3160:Rps2	UTSW	17	24,939,952 (GRCm39)	missense	probably benign	0.16
R3161:Rps2	UTSW	17	24,939,952 (GRCm39)	missense	probably benign	0.16
R3162:Rps2	UTSW	17	24,939,952 (GRCm39)	missense	probably benign	0.16
R5877:Rps2	UTSW	17	24,939,890 (GRCm39)	intron	probably benign
R8135:Rps2	UTSW	17	24,939,409 (GRCm39)	missense	probably benign	0.27
R8351:Rps2	UTSW	17	24,939,334 (GRCm39)	unclassified	probably benign
R8862:Rps2	UTSW	17	24,940,662 (GRCm39)	missense	probably benign	0.01
R8947:Rps2	UTSW	17	24,940,227 (GRCm39)	missense	probably benign	0.00
R9536:Rps2	UTSW	17	24,940,851 (GRCm39)	missense	unknown
R9762:Rps2	UTSW	17	24,940,810 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGACACAGTTTTGGCAGGAC -3'
(R):5'- GTTTTGCTCAACCTCACGG -3'

Sequencing Primer
(F):5'- TTTTGGCAGGACCGCACAG -3'
(R):5'- ACCTCATCCTTTAGGGAC -3'

Posted On

2019-06-26