Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Rbpms2'

231594

Institutional Source

Beutler Lab

Gene Symbol

Rbpms2

Ensembl Gene

ENSMUSG00000032387

Gene Name

RNA binding protein with multiple splicing 2

Synonyms

2400008B06Rik

MMRRC Submission

040093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2088 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

65536930-65567810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65538121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 4 (L4Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131076 (fasta)

Gene Model

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

AlphaFold

Q8VC52

Predicted Effect

probably benign
Transcript: ENSMUST00000055844
AA Change: L4Q

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000057600
Gene: ENSMUSG00000032387
AA Change: L4Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169003
AA Change: L4Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131076
Gene: ENSMUSG00000032387
AA Change: L4Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213927

Predicted Effect

probably benign
Transcript: ENSMUST00000216342

Predicted Effect

probably benign
Transcript: ENSMUST00000216382

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,333,265 (GRCm39)		probably benign	Het
Ano5	T	A	7: 51,237,454 (GRCm39)	N759K	possibly damaging	Het
Arhgef10	A	G	8: 15,033,898 (GRCm39)	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,341,745 (GRCm39)	T93A	unknown	Het
Canx	C	T	11: 50,201,217 (GRCm39)	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126 (GRCm39)	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 123,364,725 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,811 (GRCm39)		probably null	Het
Cmya5	A	T	13: 93,229,320 (GRCm39)	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,073,373 (GRCm39)	I618N	probably damaging	Het
Cox17	C	G	16: 38,167,542 (GRCm39)	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,708,986 (GRCm39)	E675G	probably damaging	Het
Cul9	A	G	17: 46,837,575 (GRCm39)	L990P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eif2d	T	C	1: 131,092,464 (GRCm39)	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,382,033 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,222,804 (GRCm39)	I1926F	probably benign	Het
Galnt4	A	G	10: 98,945,046 (GRCm39)	D257G	probably damaging	Het
Gatm	A	G	2: 122,428,629 (GRCm39)	V344A	probably benign	Het
Gli1	T	G	10: 127,167,369 (GRCm39)	Y628S	probably damaging	Het
Gsdmc3	A	C	15: 63,732,063 (GRCm39)		probably null	Het
Hap1	T	C	11: 100,246,828 (GRCm39)	T26A	probably benign	Het
Helz2	C	T	2: 180,876,895 (GRCm39)	G1200S	probably benign	Het
Insyn1	T	C	9: 58,406,288 (GRCm39)	F66S	probably damaging	Het
Iqgap2	C	T	13: 96,028,171 (GRCm39)		probably null	Het
Itga3	T	A	11: 94,943,320 (GRCm39)	I895F	probably benign	Het
Klhl33	A	T	14: 51,130,230 (GRCm39)	C421*	probably null	Het
Klra2	T	C	6: 131,219,789 (GRCm39)	T131A	probably damaging	Het
Krt14	T	C	11: 100,094,949 (GRCm39)	E426G	possibly damaging	Het
Limd2	A	G	11: 106,049,568 (GRCm39)	F107L	probably damaging	Het
Lipo4	A	T	19: 33,477,469 (GRCm39)	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,454,316 (GRCm39)	D228A	probably damaging	Het
Moxd2	G	A	6: 40,861,901 (GRCm39)	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,162,624 (GRCm39)	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,818,297 (GRCm39)	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,501,793 (GRCm39)	S559P	probably damaging	Het
Muc4	T	A	16: 32,576,783 (GRCm39)	H2094Q	unknown	Het
Ndufa11	C	A	17: 57,024,922 (GRCm39)	T28K	probably damaging	Het
Or2b4	A	G	17: 38,116,686 (GRCm39)	T217A	probably benign	Het
Or4f4b	G	T	2: 111,314,623 (GRCm39)	A283S	probably damaging	Het
Orai2	C	A	5: 136,179,610 (GRCm39)	R155L	probably damaging	Het
Pde4c	A	G	8: 71,202,005 (GRCm39)	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,661,749 (GRCm39)	E609G	probably null	Het
Prune2	A	G	19: 17,097,109 (GRCm39)	D871G	possibly damaging	Het
Rhbg	T	C	3: 88,154,765 (GRCm39)	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,700,562 (GRCm39)	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,431,963 (GRCm39)	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,677,115 (GRCm39)	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,260,968 (GRCm39)	M83L	possibly damaging	Het
Simc1	T	C	13: 54,689,347 (GRCm39)	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,659,933 (GRCm39)	S127P	probably benign	Het
Tatdn3	A	G	1: 190,785,073 (GRCm39)	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,707,383 (GRCm39)	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,909,922 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,032,168 (GRCm39)	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,719,744 (GRCm39)		probably benign	Het
Uhrf1	A	T	17: 56,625,089 (GRCm39)	K544M	probably damaging	Het
Unc80	T	A	1: 66,629,386 (GRCm39)	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,146,560 (GRCm39)	I437K	probably damaging	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,312,795 (GRCm39)	I622F	probably damaging	Het
Znfx1	A	G	2: 166,897,730 (GRCm39)	F398S	probably damaging	Het

Other mutations in Rbpms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0018:Rbpms2	UTSW	9	65,558,360 (GRCm39)	missense	probably damaging	1.00
R0018:Rbpms2	UTSW	9	65,558,360 (GRCm39)	missense	probably damaging	1.00
R0567:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R0568:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R0570:Rbpms2	UTSW	9	65,566,476 (GRCm39)	nonsense	probably null
R0727:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1374:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1375:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1377:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1390:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1412:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1662:Rbpms2	UTSW	9	65,558,324 (GRCm39)	missense	probably benign	0.05
R1710:Rbpms2	UTSW	9	65,566,494 (GRCm39)	splice site	probably benign
R1714:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1714:Rbpms2	UTSW	9	65,558,947 (GRCm39)	unclassified	probably benign
R1715:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1838:Rbpms2	UTSW	9	65,558,962 (GRCm39)	unclassified	probably benign
R1838:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1839:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R1882:Rbpms2	UTSW	9	65,558,948 (GRCm39)	unclassified	probably benign
R2118:Rbpms2	UTSW	9	65,558,229 (GRCm39)	missense	probably damaging	1.00
R2237:Rbpms2	UTSW	9	65,558,893 (GRCm39)	nonsense	probably null
R4633:Rbpms2	UTSW	9	65,558,918 (GRCm39)	missense	probably benign	0.02
R7249:Rbpms2	UTSW	9	65,556,632 (GRCm39)	missense	probably damaging	1.00
R8277:Rbpms2	UTSW	9	65,556,695 (GRCm39)	missense	probably damaging	1.00
R8445:Rbpms2	UTSW	9	65,558,303 (GRCm39)	missense	possibly damaging	0.81
R8902:Rbpms2	UTSW	9	65,558,351 (GRCm39)	missense	probably benign	0.39
R9672:Rbpms2	UTSW	9	65,538,118 (GRCm39)	missense	probably benign
R9706:Rbpms2	UTSW	9	65,558,285 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- CCCGCCAAACTTAATGTGATC -3'
(R):5'- TCTCAGCTCCTTACAGTCGG -3'

Sequencing Primer
(F):5'- AGCCGCTTTCCTCACCAGCT -3'
(R):5'- TGGACATGGGCTGCTCCTC -3'

Posted On

2014-09-18