Mutagenetix > Incidental Mutation

Incidental Mutation 'R3710:Rbms2'

259557

Institutional Source

Beutler Lab

Gene Symbol

Rbms2

Ensembl Gene

ENSMUSG00000040043

Gene Name

RNA binding motif, single stranded interacting protein 2

Synonyms

Scr3, 2610315E04Rik

MMRRC Submission

040703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R3710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127967427-128016166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127979312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 139 (R139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092033] [ENSMUST00000099139]

AlphaFold

Q8VC70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092033
AA Change: R167Q

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089664
Gene: ENSMUSG00000040043
AA Change: R167Q

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
RRM	59	127	3.35e-16	SMART
RRM	138	209	1.94e-12	SMART
low complexity region	347	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099139
AA Change: R139Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096742
Gene: ENSMUSG00000040043
AA Change: R139Q

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
RRM	31	99	3.35e-16	SMART
RRM	110	181	1.94e-12	SMART
low complexity region	319	331	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218884

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,597,384 (GRCm39)		probably benign	Het
Agbl2	G	A	2: 90,636,152 (GRCm39)	D563N	probably benign	Het
Aida	C	A	1: 183,085,610 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,577,095 (GRCm39)	D200G	probably damaging	Het
Ankrd28	A	G	14: 31,470,808 (GRCm39)		probably benign	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Atrnl1	C	A	19: 57,645,546 (GRCm39)	H469N	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bud23	A	C	5: 135,085,204 (GRCm39)	S41A	possibly damaging	Het
Car12	G	T	9: 66,658,260 (GRCm39)	A21S	probably damaging	Het
Cav3	T	A	6: 112,436,774 (GRCm39)	M1K	probably null	Het
Cdc42bpa	A	G	1: 179,892,628 (GRCm39)	D264G	probably damaging	Het
Cic	A	G	7: 24,986,406 (GRCm39)	D1276G	probably damaging	Het
Col2a1	A	G	15: 97,888,788 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Csn3	C	A	5: 88,077,882 (GRCm39)	N129K	possibly damaging	Het
Diaph1	C	A	18: 37,978,537 (GRCm39)	G1209W	probably damaging	Het
Dsg2	A	G	18: 20,735,174 (GRCm39)	T1051A	probably damaging	Het
Gm1965	A	T	6: 89,122,407 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsto1	T	C	19: 47,847,971 (GRCm39)		probably null	Het
Il15ra	G	T	2: 11,735,458 (GRCm39)		probably null	Het
Ipo8	A	T	6: 148,707,842 (GRCm39)		probably null	Het
Lsm14a	T	A	7: 34,053,204 (GRCm39)	I283F	probably damaging	Het
Mael	T	C	1: 166,066,135 (GRCm39)	D34G	probably damaging	Het
Marchf6	A	T	15: 31,509,972 (GRCm39)		probably benign	Het
Mtmr10	C	A	7: 63,976,433 (GRCm39)	A410D	possibly damaging	Het
Myh9	T	C	15: 77,657,547 (GRCm39)	E1066G	possibly damaging	Het
Nim1k	A	G	13: 120,173,635 (GRCm39)	S420P	probably benign	Het
Nlrp4c	T	A	7: 6,068,627 (GRCm39)	V176E	probably damaging	Het
Ogfod1	A	T	8: 94,784,380 (GRCm39)	K313*	probably null	Het
Or5an1	T	G	19: 12,260,450 (GRCm39)	F13V	probably damaging	Het
Osbpl10	C	A	9: 115,036,655 (GRCm39)	P253Q	probably benign	Het
Otof	A	T	5: 30,542,610 (GRCm39)	M661K	probably benign	Het
Rimbp2	G	A	5: 128,866,795 (GRCm39)	T508I	probably benign	Het
Ros1	A	T	10: 52,037,991 (GRCm39)	C393*	probably null	Het
Rps17	T	A	7: 80,994,672 (GRCm39)	T30S	probably benign	Het
Rps3	T	C	7: 99,128,626 (GRCm39)	K197R	probably benign	Het
Samd11	G	A	4: 156,334,952 (GRCm39)	L109F	probably damaging	Het
Smarca2	T	G	19: 26,646,290 (GRCm39)		probably benign	Het
Sprr2g	C	A	3: 92,282,036 (GRCm39)	P30Q	unknown	Het
Spz1	G	A	13: 92,711,631 (GRCm39)	Q282*	probably null	Het
Syne3	A	G	12: 104,909,697 (GRCm39)	L713P	possibly damaging	Het
Tgm1	C	A	14: 55,950,052 (GRCm39)		probably benign	Het
Tomm22	T	C	15: 79,555,419 (GRCm39)	F55L	probably damaging	Het
Tph2	T	A	10: 115,009,963 (GRCm39)	Y199F	probably benign	Het
Vmn2r108	A	T	17: 20,682,932 (GRCm39)	F757L	probably benign	Het
Vmn2r69	T	A	7: 85,055,601 (GRCm39)	T846S	probably benign	Het
Was	G	T	X: 7,952,927 (GRCm39)	S271R	probably benign	Het
Zc3hav1	A	C	6: 38,309,097 (GRCm39)	M575R	probably benign	Het

Other mutations in Rbms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02573:Rbms2	APN	10	127,979,309 (GRCm39)	missense	probably damaging	1.00
IGL03331:Rbms2	APN	10	127,969,504 (GRCm39)	unclassified	probably benign
Salvatore	UTSW	10	127,979,315 (GRCm39)	missense	probably damaging	0.99
R0143:Rbms2	UTSW	10	127,973,823 (GRCm39)	missense	probably benign	0.17
R0458:Rbms2	UTSW	10	127,987,058 (GRCm39)	missense	probably damaging	1.00
R0494:Rbms2	UTSW	10	127,969,539 (GRCm39)	missense	probably benign	0.00
R1348:Rbms2	UTSW	10	128,012,214 (GRCm39)	splice site	probably null
R1809:Rbms2	UTSW	10	127,974,055 (GRCm39)	missense	possibly damaging	0.91
R2059:Rbms2	UTSW	10	127,973,387 (GRCm39)	missense	probably benign	0.00
R3709:Rbms2	UTSW	10	127,979,312 (GRCm39)	missense	probably damaging	1.00
R4001:Rbms2	UTSW	10	127,987,169 (GRCm39)	missense	probably benign	0.03
R5316:Rbms2	UTSW	10	127,981,606 (GRCm39)	missense	probably damaging	0.98
R5494:Rbms2	UTSW	10	127,973,560 (GRCm39)	missense	probably damaging	0.98
R5895:Rbms2	UTSW	10	127,981,556 (GRCm39)	missense	possibly damaging	0.95
R6306:Rbms2	UTSW	10	127,987,050 (GRCm39)	critical splice donor site	probably null
R7779:Rbms2	UTSW	10	127,979,315 (GRCm39)	missense	probably damaging	0.99
R9094:Rbms2	UTSW	10	127,987,107 (GRCm39)	missense	probably damaging	1.00
Z1176:Rbms2	UTSW	10	127,973,857 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTAGTTCAGGGGAAGGGCAC -3'
(R):5'- TCAAATGTTATTCTGTGCATGAGGG -3'

Sequencing Primer
(F):5'- ACGCCTATGTGTCTATATGTGTATG -3'
(R):5'- ATTCTGTGCATGAGGGCTGAG -3'

Posted On

2015-01-23