Mutagenetix > Incidental Mutation

Incidental Mutation 'R9762:Rps2'

733112

Institutional Source

Beutler Lab

Gene Symbol

Rps2

Ensembl Gene

ENSMUSG00000044533

Gene Name

ribosomal protein S2

Synonyms

Rps2, Llrep3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9762 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24939037-24940901 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24940810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 279 (R279*)

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

probably null
Transcript: ENSMUST00000054289
AA Change: R279*

SMART Domains

Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533
AA Change: R279*

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 benign
Transcript: ENSMUST00000146867
AA Change: Q283L

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

SMART Domains

Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533
AA Change: Q283L

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 benign
Transcript: ENSMUST00000152407

SMART Domains

Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533

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

probably null
Transcript: ENSMUST00000170715
AA Change: R279*

SMART Domains

Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533
AA Change: R279*

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: 99.9%
3x: 99.8%
10x: 99.4%
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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	T	19: 57,025,691 (GRCm39)	R851S	probably damaging	Het
Acap2	C	A	16: 30,929,763 (GRCm39)	A407S	probably damaging	Het
Adam26a	A	T	8: 44,021,635 (GRCm39)	S618R	probably benign	Het
Adamtsl5	T	C	10: 80,180,896 (GRCm39)	Y89C	probably damaging	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Ankfy1	A	G	11: 72,621,401 (GRCm39)	E229G	probably benign	Het
Arhgap27	G	T	11: 103,251,511 (GRCm39)	D72E	probably benign	Het
Arhgap33	T	C	7: 30,230,950 (GRCm39)	E191G	probably null	Het
Atp6v0a1	C	T	11: 100,946,427 (GRCm39)	H807Y	possibly damaging	Het
Ccdc113	A	C	8: 96,272,605 (GRCm39)	E237D	probably benign	Het
Cd200r2	T	A	16: 44,729,420 (GRCm39)	I25K	probably benign	Het
Cd300c2	A	G	11: 114,887,775 (GRCm39)	V209A	probably damaging	Het
Cdkn2d	T	A	9: 21,200,383 (GRCm39)	E129D	probably benign	Het
Cfap251	A	G	5: 123,460,533 (GRCm39)	Y1165C	probably damaging	Het
Chd9	A	T	8: 91,712,741 (GRCm39)	N855Y	unknown	Het
Cntn3	A	G	6: 102,254,196 (GRCm39)	C249R	probably damaging	Het
Col12a1	T	C	9: 79,527,266 (GRCm39)	E2688G	possibly damaging	Het
Copb2	C	T	9: 98,464,901 (GRCm39)	T612I	probably benign	Het
Cplx1	A	T	5: 108,673,378 (GRCm39)	D29E	possibly damaging	Het
Cracd	A	G	5: 77,006,555 (GRCm39)	K972R	unknown	Het
Cstf3	A	T	2: 104,494,684 (GRCm39)	R645*	probably null	Het
Ctdp1	A	T	18: 80,492,550 (GRCm39)	Y648*	probably null	Het
Daam1	T	A	12: 71,990,855 (GRCm39)	D156E	unknown	Het
Dbn1	G	A	13: 55,622,824 (GRCm39)	P599L	probably damaging	Het
Diaph1	C	A	18: 37,987,589 (GRCm39)	V1056F	probably damaging	Het
Dzip3	A	T	16: 48,748,707 (GRCm39)	D870E	probably damaging	Het
Efcab12	T	C	6: 115,800,331 (GRCm39)	T231A	possibly damaging	Het
Efl1	A	C	7: 82,412,596 (GRCm39)	D995A	probably benign	Het
Fam186a	T	C	15: 99,842,393 (GRCm39)	T1284A	possibly damaging	Het
Fbxo33	T	C	12: 59,251,708 (GRCm39)	E269G	probably benign	Het
Foxj3	T	A	4: 119,483,540 (GRCm39)	M604K	unknown	Het
Gabra4	A	G	5: 71,814,463 (GRCm39)	S86P	unknown	Het
Gnas	G	A	2: 174,140,639 (GRCm39)	W269*	probably null	Het
Gpc6	T	G	14: 118,202,258 (GRCm39)	N489K	probably damaging	Het
Gprin3	T	C	6: 59,331,236 (GRCm39)	K357R	possibly damaging	Het
Grip1	G	T	10: 119,811,906 (GRCm39)	A286S	possibly damaging	Het
Grm4	A	T	17: 27,721,688 (GRCm39)	V151E	probably damaging	Het
Gucy1b1	A	T	3: 81,942,065 (GRCm39)	S565T	possibly damaging	Het
Hace1	T	C	10: 45,525,014 (GRCm39)	V260A	probably benign	Het
Hepacam2	A	G	6: 3,486,940 (GRCm39)	I139T	probably damaging	Het
Hspa4l	T	C	3: 40,727,057 (GRCm39)	I486T	probably benign	Het
Igkv8-19	T	C	6: 70,317,866 (GRCm39)	Y120C	probably damaging	Het
Iglv2	C	T	16: 19,079,548 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,237,106 (GRCm39)	L1025H	probably damaging	Het
Itpkb	A	G	1: 180,161,752 (GRCm39)	N626S	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Klc3	C	T	7: 19,132,023 (GRCm39)	W118*	probably null	Het
Klhl25	C	T	7: 75,516,741 (GRCm39)	T549I	probably damaging	Het
Krtap6-2	T	A	16: 89,216,763 (GRCm39)	Y68F	unknown	Het
Mtcl1	T	C	17: 66,673,347 (GRCm39)	N1121D	probably benign	Het
Ncbp3	A	G	11: 72,961,668 (GRCm39)	K314R	probably benign	Het
Nop2	T	C	6: 125,121,272 (GRCm39)	W685R	probably benign	Het
Orc1	T	A	4: 108,447,874 (GRCm39)	D40E	probably benign	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Parpbp	A	G	10: 87,960,815 (GRCm39)	S224P	possibly damaging	Het
Pdgfc	A	G	3: 80,944,792 (GRCm39)	R17G	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pik3r6	T	A	11: 68,424,358 (GRCm39)	L321*	probably null	Het
Pnp2	T	C	14: 51,197,006 (GRCm39)	W31R	probably damaging	Het
Prr12	T	C	7: 44,696,954 (GRCm39)	Y987C	unknown	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prss23	T	C	7: 89,159,683 (GRCm39)	I129V	probably damaging	Het
Rhno1	T	C	6: 128,336,119 (GRCm39)	T39A	probably damaging	Het
Ski	T	C	4: 155,244,344 (GRCm39)	K427R	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc26a7	C	T	4: 14,546,372 (GRCm39)	G319D	probably damaging	Het
Slc7a6os	A	G	8: 106,937,523 (GRCm39)	V8A	probably damaging	Het
Smim8	A	C	4: 34,771,265 (GRCm39)	I43S	probably damaging	Het
Sox5	T	C	6: 143,819,842 (GRCm39)	K400R	probably damaging	Het
Tab1	G	A	15: 80,032,943 (GRCm39)	V76M	probably damaging	Het
Taf2	A	C	15: 54,894,440 (GRCm39)		probably null	Het
Taf5	G	A	19: 47,059,434 (GRCm39)	V193M	probably damaging	Het
Tm2d1	A	T	4: 98,246,261 (GRCm39)	S180R	probably damaging	Het
Ttc12	A	G	9: 49,368,166 (GRCm39)	F287S	probably damaging	Het
Ubqln4	G	A	3: 88,473,185 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,839,497 (GRCm39)	V1537A	probably benign	Het
Ugt8a	A	G	3: 125,708,900 (GRCm39)	L70P	probably damaging	Het
Vps26a	A	T	10: 62,316,433 (GRCm39)	N51K	probably benign	Het
Xkr5	T	A	8: 18,990,749 (GRCm39)	T173S	probably benign	Het
Zfp354c	A	G	11: 50,706,239 (GRCm39)	C279R	probably damaging	Het
Zfp65	T	A	13: 67,856,478 (GRCm39)	H267L	probably damaging	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
R7247:Rps2	UTSW	17	24,939,554 (GRCm39)	missense	possibly damaging	0.86
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

Predicted Primers

PCR Primer
(F):5'- CCTTTGATGCCATCTCCAAGAC -3'
(R):5'- CAGCCATATCCTCTCAGGTTG -3'

Sequencing Primer
(F):5'- TTGATGCCATCTCCAAGACTTACAG -3'
(R):5'- AGCCATATCCTCTCAGGTTGTATTAG -3'

Posted On

2022-11-14