Mutagenetix > Incidental Mutation

Incidental Mutation 'R8445:Rbpms2'

654455

Institutional Source

Beutler Lab

Gene Symbol

Rbpms2

Ensembl Gene

ENSMUSG00000032387

Gene Name

RNA binding protein with multiple splicing 2

Synonyms

2400008B06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65629648-65660528 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65651021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 113 (A113V)

Ref Sequence

ENSEMBL: ENSMUSP00000057600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055844] [ENSMUST00000169003] [ENSMUST00000216342] [ENSMUST00000216382]

AlphaFold

Q8VC52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055844
AA Change: A113V

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057600
Gene: ENSMUSG00000032387
AA Change: A113V

Domain	Start	End	E-Value	Type
RRM	26	98	7.84e-8	SMART
low complexity region	172	182	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169003
AA Change: A113V

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131076
Gene: ENSMUSG00000032387
AA Change: A113V

Domain	Start	End	E-Value	Type
RRM	26	98	7.84e-8	SMART
low complexity region	135	144	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000216342
AA Change: A123V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216382
AA Change: A141V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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 the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	G	9: 70,766,921	S522A	probably benign	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Alg12	C	T	15: 88,814,486	R212Q	probably benign	Het
C330018D20Rik	G	A	18: 56,957,890	P67L	probably damaging	Het
Col3a1	C	T	1: 45,341,180	R955*	probably null	Het
Cyp2j12	T	A	4: 96,133,022	I116F	possibly damaging	Het
Cyp4a10	T	A	4: 115,525,594	W331R	probably damaging	Het
Dmbt1	T	A	7: 131,090,380	Y959N	unknown	Het
Dytn	T	A	1: 63,647,514	K332N	probably benign	Het
E130308A19Rik	T	A	4: 59,720,526	V686D	probably damaging	Het
Epha8	T	C	4: 136,932,289	Y792C	probably benign	Het
Fam53c	T	C	18: 34,768,315	V95A	probably benign	Het
Fbxl4	C	A	4: 22,385,983	Q197K	probably benign	Het
Fmod	G	A	1: 134,040,998	V259I	probably benign	Het
Insrr	T	C	3: 87,813,584	S1050P	probably damaging	Het
Itga4	A	G	2: 79,281,781	M347V	probably benign	Het
Kdm5d	A	G	Y: 916,874	E423G	probably damaging	Het
Klra7	A	T	6: 130,227,115	I147N	possibly damaging	Het
Lbx1	T	A	19: 45,234,212	K124I	probably damaging	Het
Map4k5	T	A	12: 69,850,967	H138L	probably damaging	Het
Mc3r	A	G	2: 172,249,317	H153R	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Nfatc4	A	C	14: 55,826,418	I121L	possibly damaging	Het
Nipa1	A	T	7: 55,979,718	S216T	probably benign	Het
Nlrp4e	A	T	7: 23,340,540	I763L	probably benign	Het
Nop2	A	G	6: 125,134,604	D100G	probably benign	Het
Olfr437	A	G	6: 43,167,297	M80V	probably benign	Het
Olfr870	T	A	9: 20,171,098	I158L	probably benign	Het
Prelid3a	A	G	18: 67,473,778	E80G	probably damaging	Het
Prl4a1	T	C	13: 28,021,462	S137P	possibly damaging	Het
Rph3a	T	C	5: 120,973,370	E49G	probably damaging	Het
Shisa7	A	T	7: 4,836,353	M124K	probably benign	Het
Shprh	C	T	10: 11,181,569	P1078S	possibly damaging	Het
Slc30a7	C	T	3: 116,007,346		probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,700,943		probably benign	Het
Smg1	A	C	7: 118,136,977	N3563K	possibly damaging	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
St6galnac6	A	G	2: 32,608,520		probably benign	Het
Tcp11l1	C	A	2: 104,681,933	E451D	probably benign	Het
Tfpt	G	A	7: 3,620,929	P160S	probably damaging	Het
Thbs4	C	A	13: 92,790,841	A47S	probably benign	Het
Trpm2	T	C	10: 77,910,252	D1482G	probably damaging	Het
Tspyl4	C	T	10: 34,297,746	A78V	probably benign	Het
Vmn2r26	A	G	6: 124,026,036	N135S	probably damaging	Het
Vmn2r87	A	T	10: 130,477,466	V477E	probably damaging	Het
Wdr89	T	C	12: 75,632,862	D206G	probably damaging	Het
Zfp623	C	A	15: 75,947,553	Y119*	probably null	Het
Zfp879	A	G	11: 50,833,386	M281T	probably damaging	Het
Zfp952	T	G	17: 33,003,578	F344V	possibly damaging	Het
Zgrf1	T	C	3: 127,586,205		probably null	Het

Other mutations in Rbpms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0018:Rbpms2	UTSW	9	65651078	missense	probably damaging	1.00
R0018:Rbpms2	UTSW	9	65651078	missense	probably damaging	1.00
R0567:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R0568:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R0570:Rbpms2	UTSW	9	65659194	nonsense	probably null
R0727:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1374:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1375:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1377:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1390:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1412:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1662:Rbpms2	UTSW	9	65651042	missense	probably benign	0.05
R1710:Rbpms2	UTSW	9	65659212	splice site	probably benign
R1714:Rbpms2	UTSW	9	65651665	unclassified	probably benign
R1714:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1715:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1838:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1838:Rbpms2	UTSW	9	65651680	unclassified	probably benign
R1839:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R1882:Rbpms2	UTSW	9	65651666	unclassified	probably benign
R2088:Rbpms2	UTSW	9	65630839	missense	probably damaging	0.99
R2118:Rbpms2	UTSW	9	65650947	missense	probably damaging	1.00
R2237:Rbpms2	UTSW	9	65651611	nonsense	probably null
R4633:Rbpms2	UTSW	9	65651636	missense	probably benign	0.02
R7249:Rbpms2	UTSW	9	65649350	missense	probably damaging	1.00
R8277:Rbpms2	UTSW	9	65649413	missense	probably damaging	1.00
R8902:Rbpms2	UTSW	9	65651069	missense	probably benign	0.39
R9672:Rbpms2	UTSW	9	65630836	missense	probably benign
R9706:Rbpms2	UTSW	9	65651003	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TCCACTGTAGCCCTTTGTGG -3'
(R):5'- GCTATGGGTGAAAGAAAGTCCC -3'

Sequencing Primer
(F):5'- CCACTGTAGCCCTTTGTGGAAAAG -3'
(R):5'- GTCCCAGAAAAGGAGATATGACCC -3'

Posted On

2020-10-20