Mutagenetix > Incidental Mutation

Incidental Mutation 'R8862:Rps2'

675745

Institutional Source

Beutler Lab

Gene Symbol

Rps2

Ensembl Gene

ENSMUSG00000044533

Gene Name

ribosomal protein S2

Synonyms

Rps2, Llrep3

MMRRC Submission

068741-MU

Accession Numbers

Essential gene?

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

Stock #

R8862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24939037-24940901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24940662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 259 (T259A)

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 benign
Transcript: ENSMUST00000054289
AA Change: T259A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533
AA Change: T259A

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: T259A

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

SMART Domains

Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533
AA Change: T259A

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
AA Change: T259A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533
AA Change: T259A

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 benign
Transcript: ENSMUST00000170715
AA Change: T259A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533
AA Change: T259A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,901,172 (GRCm39)	G685R	probably benign	Het
Ahdc1	T	C	4: 132,791,129 (GRCm39)	F790S	possibly damaging	Het
Alg10b	T	C	15: 90,109,893 (GRCm39)	Y69H	probably damaging	Het
Amer3	A	T	1: 34,626,465 (GRCm39)	S235C	probably damaging	Het
Ankfy1	G	T	11: 72,644,469 (GRCm39)	S722I	probably benign	Het
Baz1a	T	C	12: 55,032,624 (GRCm39)		probably benign	Het
Ccdc177	A	G	12: 80,804,208 (GRCm39)	S689P	unknown	Het
Cdh24	C	A	14: 54,869,874 (GRCm39)	R681L	probably damaging	Het
Cdk14	T	G	5: 5,060,862 (GRCm39)	I338L	probably benign	Het
Clec2m	T	C	6: 129,308,494 (GRCm39)	T12A	probably benign	Het
Col18a1	G	T	10: 76,949,044 (GRCm39)	S156*	probably null	Het
Col6a6	T	C	9: 105,663,348 (GRCm39)	Y63C	probably damaging	Het
Cytip	G	A	2: 58,037,887 (GRCm39)	T159M	probably benign	Het
Dnah5	T	C	15: 28,459,502 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,855,927 (GRCm39)	Y744C	probably damaging	Het
Dop1a	T	C	9: 86,406,404 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,934 (GRCm39)	D385E	probably damaging	Het
Efhc1	A	C	1: 21,037,573 (GRCm39)	D250A		Het
Epha3	T	A	16: 63,431,348 (GRCm39)	T519S	probably benign	Het
Gas2l3	A	G	10: 89,250,282 (GRCm39)	Y279H	probably damaging	Het
Gatd3a	A	G	10: 78,005,461 (GRCm39)	S35P	probably damaging	Het
Gemin6	G	A	17: 80,535,432 (GRCm39)	V131I	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gnai2	C	A	9: 107,512,326 (GRCm39)	A31S		Het
Greb1l	A	G	18: 10,555,042 (GRCm39)	D1696G	possibly damaging	Het
Itfg2	T	C	6: 128,394,668 (GRCm39)	E35G	probably damaging	Het
Kctd10	A	G	5: 114,503,921 (GRCm39)	F244L	probably damaging	Het
Kif19b	C	A	5: 140,472,534 (GRCm39)	P686Q	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lgals9	G	T	11: 78,860,716 (GRCm39)		probably benign	Het
Lrriq4	A	T	3: 30,705,088 (GRCm39)	N372I	probably damaging	Het
Mical2	A	G	7: 111,910,574 (GRCm39)	N248S	probably damaging	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Myo1a	G	A	10: 127,548,653 (GRCm39)	V396M	probably benign	Het
Myod1	A	G	7: 46,026,487 (GRCm39)	T131A	probably damaging	Het
Nalcn	T	A	14: 123,647,199 (GRCm39)	D558V	possibly damaging	Het
Odf2l	T	A	3: 144,833,758 (GRCm39)		probably benign	Het
Or6d13	G	A	6: 116,518,186 (GRCm39)	M257I	probably benign	Het
Plbd2	A	T	5: 120,624,728 (GRCm39)	M480K	probably damaging	Het
Ppargc1a	A	G	5: 51,631,235 (GRCm39)	F465L	possibly damaging	Het
Ppp1r15b	A	T	1: 133,064,506 (GRCm39)	I659F	probably damaging	Het
Prune2	C	T	19: 17,097,510 (GRCm39)	L1005F	probably benign	Het
Pter	T	C	2: 12,985,341 (GRCm39)	S224P	probably damaging	Het
Ralgapa2	A	G	2: 146,266,731 (GRCm39)	I615T	probably benign	Het
Ror1	T	C	4: 100,191,715 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
S1pr4	G	A	10: 81,334,533 (GRCm39)	R314C	probably damaging	Het
Sema4f	A	T	6: 82,891,081 (GRCm39)	H575Q	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sox8	A	T	17: 25,787,045 (GRCm39)	H219Q	possibly damaging	Het
Spink2	C	T	5: 77,357,615 (GRCm39)	D24N	probably benign	Het
Stard9	A	G	2: 120,534,099 (GRCm39)	D3452G	probably benign	Het
Syngr2	G	T	11: 117,703,507 (GRCm39)	D108Y	probably damaging	Het
Tardbp	G	A	4: 148,702,755 (GRCm39)	S403L	possibly damaging	Het
Tomm70a	T	C	16: 56,942,546 (GRCm39)	S108P	probably benign	Het
Ttc12	T	C	9: 49,351,515 (GRCm39)	T661A	probably benign	Het
Tubgcp6	A	G	15: 89,006,824 (GRCm39)	V66A	probably benign	Het
Unc13b	T	A	4: 43,235,207 (GRCm39)	L477Q	probably damaging	Het
Vmn1r77	T	A	7: 11,776,060 (GRCm39)	C279S	probably benign	Het
Vmn2r79	T	C	7: 86,645,712 (GRCm39)	S14P	probably benign	Het
Zan	T	C	5: 137,472,674 (GRCm39)	T72A	probably benign	Het
Zcchc2	A	G	1: 105,958,998 (GRCm39)	*1156W	probably null	Het
Zfp354c	A	T	11: 50,708,718 (GRCm39)	D26E	probably benign	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
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'- TAGGTTGCATGGCAGACCTG -3'
(R):5'- CCAGAGCTACATAGTATCATGTATGGG -3'

Sequencing Primer
(F):5'- TGCCCCAAGGTGGCTTCTC -3'
(R):5'- TACATAGTATCATGTATGGGGGAGAC -3'

Posted On

2021-07-15