Mutagenetix > Incidental Mutation

Incidental Mutation 'R7249:Rbpms2'

563765

Institutional Source

Beutler Lab

Gene Symbol

Rbpms2

Ensembl Gene

ENSMUSG00000032387

Gene Name

RNA binding protein with multiple splicing 2

Synonyms

2400008B06Rik

MMRRC Submission

045312-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65536930-65567810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65556632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 24 (V24G)

Ref Sequence

ENSEMBL: ENSMUSP00000057600 (fasta)

Gene Model

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

AlphaFold

Q8VC52

Predicted Effect

probably damaging
Transcript: ENSMUST00000055844
AA Change: V24G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057600
Gene: ENSMUSG00000032387
AA Change: V24G

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: V24G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131076
Gene: ENSMUSG00000032387
AA Change: V24G

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: V55G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216382
AA Change: V52G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,974,970 (GRCm39)	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,385,271 (GRCm39)	S231R	possibly damaging	Het
Abi1	T	C	2: 22,847,101 (GRCm39)	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,553,347 (GRCm39)	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,522,378 (GRCm39)	H5920Y	probably damaging	Het
Adra2c	G	A	5: 35,438,299 (GRCm39)	R357H	probably damaging	Het
Ap3d1	T	C	10: 80,577,767 (GRCm39)	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,506,583 (GRCm39)	D847E	possibly damaging	Het
Cacna1d	T	C	14: 29,864,660 (GRCm39)	E434G	probably damaging	Het
Carm1	T	C	9: 21,497,505 (GRCm39)	Y356H	probably benign	Het
Clip1	T	C	5: 123,741,663 (GRCm39)	K1075R	probably damaging	Het
Cyp27b1	G	T	10: 126,886,918 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,113,885 (GRCm39)	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,035,336 (GRCm39)	Q28*	probably null	Het
Dpp4	A	G	2: 62,215,547 (GRCm39)	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Faap24	A	G	7: 35,094,485 (GRCm39)	V105A	probably benign	Het
Gabra6	A	T	11: 42,208,259 (GRCm39)	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,033,126 (GRCm39)	E117G	probably damaging	Het
H2-T10	T	C	17: 36,430,269 (GRCm39)	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,793,865 (GRCm39)	E332V	probably benign	Het
Htr5b	T	A	1: 121,438,203 (GRCm39)	N343Y	probably damaging	Het
Irf8	C	A	8: 121,466,571 (GRCm39)	N5K	possibly damaging	Het
Itgb1	C	A	8: 129,446,885 (GRCm39)	Q467K	probably benign	Het
Itpr2	C	A	6: 146,212,550 (GRCm39)	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,025,596 (GRCm39)	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,629,133 (GRCm39)	R493L	probably benign	Het
Malrd1	G	T	2: 15,628,151 (GRCm39)	C400F	probably damaging	Het
Marchf8	G	A	6: 116,383,195 (GRCm39)	E257K	probably benign	Het
Mastl	G	A	2: 23,036,151 (GRCm39)	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,523,202 (GRCm39)	K98R	possibly damaging	Het
Msra	A	G	14: 64,678,212 (GRCm39)	V28A	probably benign	Het
Mtmr7	A	G	8: 41,043,520 (GRCm39)	V177A	probably benign	Het
Nelfcd	T	C	2: 174,264,999 (GRCm39)		probably null	Het
Nemp1	T	C	10: 127,529,395 (GRCm39)	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,554,099 (GRCm39)	T147I	probably null	Het
Ntng2	A	G	2: 29,118,004 (GRCm39)	V148A	probably benign	Het
Nup214	A	G	2: 31,878,245 (GRCm39)	H304R	possibly damaging	Het
Or4a2	T	C	2: 89,248,217 (GRCm39)	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,621,977 (GRCm39)	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkn3	G	A	2: 29,974,773 (GRCm39)	R429Q	probably benign	Het
Plcb4	A	G	2: 135,849,741 (GRCm39)		probably null	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnp	G	A	14: 51,188,887 (GRCm39)	V227I	probably benign	Het
Pskh1	T	C	8: 106,639,886 (GRCm39)	S189P	possibly damaging	Het
Robo3	T	A	9: 37,336,129 (GRCm39)	I446L	probably benign	Het
Septin8	A	T	11: 53,425,949 (GRCm39)	K174I	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slco4a1	A	G	2: 180,106,604 (GRCm39)	Y262C	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,784,512 (GRCm39)	S519G	probably benign	Het
Ssx2ip	A	G	3: 146,132,193 (GRCm39)	N218S	possibly damaging	Het
Svil	T	C	18: 5,056,270 (GRCm39)	V381A	probably benign	Het
Svil	T	C	18: 5,062,247 (GRCm39)	S769P	probably damaging	Het
Tep1	A	T	14: 51,061,732 (GRCm39)	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,640,143 (GRCm39)	Y858C	probably damaging	Het
Tie1	A	G	4: 118,343,425 (GRCm39)	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,455,361 (GRCm39)	E578D	probably damaging	Het
Trim23	A	G	13: 104,324,663 (GRCm39)	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,826,729 (GRCm39)	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,461,125 (GRCm39)	S2P	probably benign	Het
Xkr4	T	A	1: 3,287,033 (GRCm39)	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,928,889 (GRCm39)	V38G	possibly 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
R2088:Rbpms2	UTSW	9	65,538,121 (GRCm39)	missense	probably damaging	0.99
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
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'- ATTTACACACGGGCTCCTCC -3'
(R):5'- CACATGGCAAAGTCTGTTAAGATTC -3'

Sequencing Primer
(F):5'- CACCTTGCGTCTGTTGTCTGG -3'
(R):5'- AGATCTGTGACCCCAGTTTCTGAAAC -3'

Posted On

2019-06-26