Mutagenetix > Incidental Mutation

Incidental Mutation 'R2913:Rbm45'

254731

Institutional Source

Beutler Lab

Gene Symbol

Rbm45

Ensembl Gene

ENSMUSG00000042369

Gene Name

RNA binding motif protein 45

Synonyms

G430095G15Rik, Drb1, Drbp1

MMRRC Submission

040500-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R2913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76200328-76214112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76205798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 217 (P217S)

Ref Sequence

ENSEMBL: ENSMUSP00000040420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046389]

AlphaFold

Q8BHN5

Predicted Effect

probably benign
Transcript: ENSMUST00000046389
AA Change: P217S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: P217S

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
RRM	27	102	2.08e-12	SMART
RRM	122	191	1.37e-12	SMART
RRM	249	320	2.27e-1	SMART
RRM	394	460	4.07e-6	SMART

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,934,887 (GRCm39)	Q357R	probably damaging	Het
Adap1	C	T	5: 139,260,576 (GRCm39)		probably null	Het
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Aldh3b1	T	C	19: 3,971,275 (GRCm39)		probably benign	Het
Arih2	A	G	9: 108,521,275 (GRCm39)	S68P	probably damaging	Het
Cdcp3	T	C	7: 130,783,753 (GRCm39)	S49P	possibly damaging	Het
Col1a2	C	T	6: 4,519,923 (GRCm39)		probably benign	Het
Cplane1	T	C	15: 8,300,169 (GRCm39)	S3159P	unknown	Het
Crocc	C	T	4: 140,747,661 (GRCm39)	R1496H	probably damaging	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Cyp11b1	T	C	15: 74,708,270 (GRCm39)	T402A	probably damaging	Het
Etfa	C	A	9: 55,389,613 (GRCm39)	A254S	probably damaging	Het
Fcgbpl1	A	T	7: 27,863,732 (GRCm39)	L2501F	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Gpr157	G	A	4: 150,183,222 (GRCm39)	V131I	probably benign	Het
Hbb-bh1	C	T	7: 103,492,254 (GRCm39)	E22K	possibly damaging	Het
Hmcn2	A	G	2: 31,350,222 (GRCm39)	T5040A	possibly damaging	Het
Hprt1	T	C	X: 52,109,016 (GRCm39)	Y174H	probably damaging	Het
Igsf10	T	A	3: 59,239,157 (GRCm39)	L341F	possibly damaging	Het
Ints1	A	G	5: 139,743,668 (GRCm39)	S1592P	possibly damaging	Het
Itgam	T	C	7: 127,711,578 (GRCm39)	I641T	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mapk3	T	A	7: 126,359,978 (GRCm39)	C19*	probably null	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Med26	T	G	8: 73,249,956 (GRCm39)	K381T	possibly damaging	Het
Mki67	T	C	7: 135,302,415 (GRCm39)	E873G	possibly damaging	Het
Mrgpra9	T	C	7: 46,884,828 (GRCm39)	I280V	probably benign	Het
Mroh9	T	C	1: 162,871,572 (GRCm39)	Y637C	probably damaging	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Or4c11	A	T	2: 88,695,458 (GRCm39)	N170Y	probably benign	Het
Or5j3	A	G	2: 86,128,733 (GRCm39)	D191G	probably damaging	Het
Pam	A	C	1: 97,850,854 (GRCm39)	L168R	probably damaging	Het
Pikfyve	G	A	1: 65,292,676 (GRCm39)	V1376M	probably damaging	Het
Pomt2	A	T	12: 87,175,743 (GRCm39)	N400K	probably damaging	Het
Pramel13	T	C	4: 144,119,304 (GRCm39)	E421G	probably damaging	Het
Rc3h2	A	G	2: 37,268,971 (GRCm39)	S832P	possibly damaging	Het
Ric3	A	G	7: 108,653,660 (GRCm39)	F144L	possibly damaging	Het
Rrh	G	T	3: 129,609,258 (GRCm39)	A83E	probably damaging	Het
Rspo2	T	A	15: 42,941,510 (GRCm39)	T138S	probably benign	Het
Skint5	A	G	4: 113,381,289 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Spata31d1d	T	C	13: 59,874,769 (GRCm39)	E922G	possibly damaging	Het
Spc25	T	C	2: 69,030,331 (GRCm39)	H104R	probably benign	Het
Sptssa	A	T	12: 54,703,267 (GRCm39)	M1K	probably null	Het
Srrm2	G	T	17: 24,034,658 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmem181c-ps	A	G	17: 6,888,608 (GRCm39)		noncoding transcript	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Trio	T	A	15: 27,854,998 (GRCm39)	Q728L	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Vwf	T	A	6: 125,662,809 (GRCm39)	V2731E	probably benign	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	probably benign	Het
Zgrf1	T	C	3: 127,392,356 (GRCm39)	V1292A	possibly damaging	Het

Other mutations in Rbm45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Rbm45	APN	2	76,209,051 (GRCm39)	missense	probably damaging	1.00
IGL03335:Rbm45	APN	2	76,206,777 (GRCm39)	missense	probably damaging	1.00
R0008:Rbm45	UTSW	2	76,208,742 (GRCm39)	missense	probably damaging	1.00
R0008:Rbm45	UTSW	2	76,208,742 (GRCm39)	missense	probably damaging	1.00
R0382:Rbm45	UTSW	2	76,200,555 (GRCm39)	missense	possibly damaging	0.92
R1468:Rbm45	UTSW	2	76,202,459 (GRCm39)	missense	probably damaging	1.00
R1468:Rbm45	UTSW	2	76,202,459 (GRCm39)	missense	probably damaging	1.00
R1533:Rbm45	UTSW	2	76,202,503 (GRCm39)	critical splice donor site	probably null
R1942:Rbm45	UTSW	2	76,205,823 (GRCm39)	critical splice donor site	probably null
R2046:Rbm45	UTSW	2	76,205,742 (GRCm39)	missense	probably benign
R2912:Rbm45	UTSW	2	76,205,798 (GRCm39)	missense	probably benign	0.05
R2929:Rbm45	UTSW	2	76,208,763 (GRCm39)	missense	probably benign	0.00
R3418:Rbm45	UTSW	2	76,209,362 (GRCm39)	missense	probably damaging	1.00
R3886:Rbm45	UTSW	2	76,205,768 (GRCm39)	missense	probably benign
R3887:Rbm45	UTSW	2	76,205,768 (GRCm39)	missense	probably benign
R3888:Rbm45	UTSW	2	76,205,768 (GRCm39)	missense	probably benign
R4488:Rbm45	UTSW	2	76,206,740 (GRCm39)	missense	probably damaging	0.99
R5369:Rbm45	UTSW	2	76,200,594 (GRCm39)	missense	probably damaging	1.00
R5990:Rbm45	UTSW	2	76,200,756 (GRCm39)	missense	probably benign	0.36
R6569:Rbm45	UTSW	2	76,209,416 (GRCm39)	missense	probably damaging	1.00
R6806:Rbm45	UTSW	2	76,210,804 (GRCm39)	missense	probably benign	0.19
R7022:Rbm45	UTSW	2	76,206,738 (GRCm39)	missense	probably damaging	1.00
R7832:Rbm45	UTSW	2	76,206,797 (GRCm39)	missense	possibly damaging	0.80
R8720:Rbm45	UTSW	2	76,210,711 (GRCm39)	missense	probably damaging	1.00
R8933:Rbm45	UTSW	2	76,209,068 (GRCm39)	missense	probably damaging	1.00
R9064:Rbm45	UTSW	2	76,202,446 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGTAAATTCTGCCTTGTATGG -3'
(R):5'- GTTAGAAGAACTGAGCAACTTCTC -3'

Sequencing Primer
(F):5'- GGTTTCAGAGCACTCTTG -3'
(R):5'- AGTCAGCTCACAGGTAAC -3'

Posted On

2014-12-29