Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Rbpms2'

678249

Institutional Source

Beutler Lab

Gene Symbol

Rbpms2

Ensembl Gene

ENSMUSG00000032387

Gene Name

RNA binding protein with multiple splicing 2

Synonyms

2400008B06Rik

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65629648-65660528 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65651069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 129 (I129T)

Ref Sequence

ENSEMBL: ENSMUSP00000057600 (fasta)

Gene Model

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

AlphaFold

Q8VC52

Predicted Effect

probably benign
Transcript: ENSMUST00000055844
AA Change: I129T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057600
Gene: ENSMUSG00000032387
AA Change: I129T

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: I129T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131076
Gene: ENSMUSG00000032387
AA Change: I129T

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: I139T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216382
AA Change: I157T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
Acap3	G	T	4: 155,905,914 (GRCm38)	R819L	possibly damaging	Het
App	A	G	16: 85,079,879 (GRCm38)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,615,862 (GRCm38)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,473,886 (GRCm38)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm38)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,835,641 (GRCm38)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,496,552 (GRCm38)		probably benign	Het
Cct8l1	C	T	5: 25,517,910 (GRCm38)	T541I	probably benign	Het
Chrng	G	T	1: 87,210,675 (GRCm38)	R396L	possibly damaging	Het
Cmip	A	G	8: 117,377,186 (GRCm38)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,598,707 (GRCm38)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,901,786 (GRCm38)	L514P	probably benign	Het
Echs1	A	T	7: 140,110,586 (GRCm38)	M191K	probably damaging	Het
Eps8	A	G	6: 137,512,177 (GRCm38)	S408P	probably damaging	Het
Fat2	T	C	11: 55,310,070 (GRCm38)	E726G	probably damaging	Het
Fpr2	T	C	17: 17,892,928 (GRCm38)	I62T	probably benign	Het
Gemin4	G	A	11: 76,212,022 (GRCm38)	Q638*	probably null	Het
Glrb	A	T	3: 80,861,978 (GRCm38)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016 (GRCm38)		probably null	Het
Gtf2i	T	C	5: 134,249,866 (GRCm38)	N637S	probably benign	Het
Hivep3	A	G	4: 120,096,740 (GRCm38)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,522,310 (GRCm38)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,088,431 (GRCm38)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,336,212 (GRCm38)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,682,203 (GRCm38)	A682T	probably benign	Het
Ireb2	T	G	9: 54,892,502 (GRCm38)	M409R	probably benign	Het
Kat6b	C	T	14: 21,669,561 (GRCm38)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 142,229,893 (GRCm38)	S7P	unknown	Het
Lelp1	A	T	3: 92,135,671 (GRCm38)	C24S	unknown	Het
Malrd1	A	T	2: 16,255,334 (GRCm38)	K2122*	probably null	Het
Mei1	C	A	15: 82,070,011 (GRCm38)	R6S	unknown	Het
Meis3	T	A	7: 16,177,962 (GRCm38)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,287 (GRCm38)	V152A	probably benign	Het
Muc6	T	A	7: 141,647,524 (GRCm38)	I797F	possibly damaging	Het
Myo7a	C	T	7: 98,092,613 (GRCm38)	E439K	probably damaging	Het
Neb	C	A	2: 52,243,210 (GRCm38)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,817,794 (GRCm38)	D715V	unknown	Het
Obscn	C	A	11: 59,135,936 (GRCm38)	R147L	probably benign	Het
Olfr10	A	T	11: 49,318,379 (GRCm38)	T278S	probably benign	Het
Olfr1166	A	G	2: 88,124,434 (GRCm38)	S184P	probably damaging	Het
Olfr126	T	A	17: 37,851,210 (GRCm38)	M206K	probably benign	Het
Olfr1507	G	A	14: 52,490,553 (GRCm38)	T137I	probably benign	Het
Olfr164	T	A	16: 19,286,633 (GRCm38)	I37F	probably damaging	Het
Plg	T	A	17: 12,410,903 (GRCm38)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm38)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,453,796 (GRCm38)	K441R	probably benign	Het
Prkaca	T	C	8: 83,977,085 (GRCm38)	S5P	probably benign	Het
Rbl1	T	C	2: 157,199,500 (GRCm38)	K69R	probably benign	Het
Serpina1c	A	T	12: 103,898,858 (GRCm38)	N176K	probably damaging	Het
Sgsm3	C	T	15: 81,006,595 (GRCm38)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,278,964 (GRCm38)	C355S	probably benign	Het
Stpg2	T	A	3: 139,298,409 (GRCm38)	V249E	probably damaging	Het
Syt2	T	C	1: 134,747,653 (GRCm38)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,477,196 (GRCm38)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,808,965 (GRCm38)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,693,013 (GRCm38)	E293G		Het
Ttc41	C	A	10: 86,713,001 (GRCm38)	R20S	probably benign	Het
Ttn	C	T	2: 76,740,789 (GRCm38)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,460,411 (GRCm38)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,749,548 (GRCm38)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,443,084 (GRCm38)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,275,014 (GRCm38)	L326Q	probably damaging	Het
Zfp568	T	C	7: 30,013,882 (GRCm38)	M120T	probably benign	Het
Zfp944	T	C	17: 22,339,780 (GRCm38)	D162G	probably benign	Het

Other mutations in Rbpms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0018:Rbpms2	UTSW	9	65,651,078 (GRCm38)	missense	probably damaging	1.00
R0018:Rbpms2	UTSW	9	65,651,078 (GRCm38)	missense	probably damaging	1.00
R0567:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R0568:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R0570:Rbpms2	UTSW	9	65,659,194 (GRCm38)	nonsense	probably null
R0727:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1374:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1375:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1377:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1390:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1412:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1662:Rbpms2	UTSW	9	65,651,042 (GRCm38)	missense	probably benign	0.05
R1710:Rbpms2	UTSW	9	65,659,212 (GRCm38)	splice site	probably benign
R1714:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1714:Rbpms2	UTSW	9	65,651,665 (GRCm38)	unclassified	probably benign
R1715:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1838:Rbpms2	UTSW	9	65,651,680 (GRCm38)	unclassified	probably benign
R1838:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1839:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R1882:Rbpms2	UTSW	9	65,651,666 (GRCm38)	unclassified	probably benign
R2088:Rbpms2	UTSW	9	65,630,839 (GRCm38)	missense	probably damaging	0.99
R2118:Rbpms2	UTSW	9	65,650,947 (GRCm38)	missense	probably damaging	1.00
R2237:Rbpms2	UTSW	9	65,651,611 (GRCm38)	nonsense	probably null
R4633:Rbpms2	UTSW	9	65,651,636 (GRCm38)	missense	probably benign	0.02
R7249:Rbpms2	UTSW	9	65,649,350 (GRCm38)	missense	probably damaging	1.00
R8277:Rbpms2	UTSW	9	65,649,413 (GRCm38)	missense	probably damaging	1.00
R8445:Rbpms2	UTSW	9	65,651,021 (GRCm38)	missense	possibly damaging	0.81
R9672:Rbpms2	UTSW	9	65,630,836 (GRCm38)	missense	probably benign
R9706:Rbpms2	UTSW	9	65,651,003 (GRCm38)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AGTATGGGTCCTTGCATGCG -3'
(R):5'- TTTGGAGCCCAGTCTTCTTGAG -3'

Sequencing Primer
(F):5'- GGTCCTTGCATGCGTCTCTC -3'
(R):5'- CCCAGTCTTCTTGAGTCTAGAGAAG -3'

Posted On

2021-08-02