Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Rnpc3'

563132

Institutional Source

Beutler Lab

Gene Symbol

Rnpc3

Ensembl Gene

ENSMUSG00000027981

Gene Name

RNA-binding region (RNP1, RRM) containing 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113605067-113630149 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113616831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 270 (R270S)

Ref Sequence

ENSEMBL: ENSMUSP00000089792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092154] [ENSMUST00000106535] [ENSMUST00000106536]

AlphaFold

Q3UZ01

Predicted Effect

probably damaging
Transcript: ENSMUST00000092154
AA Change: R270S

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

SMART Domains

Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
AA Change: R270S

Domain	Start	End	E-Value	Type
RRM	28	98	2.28e-9	SMART
low complexity region	218	253	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
RRM	419	497	1.35e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106535
AA Change: R270S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
AA Change: R270S

Domain	Start	End	E-Value	Type
RRM	28	98	2.28e-9	SMART
low complexity region	218	253	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
RRM	419	497	4.1e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106536
AA Change: R270S

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

SMART Domains

Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
AA Change: R270S

Domain	Start	End	E-Value	Type
RRM	28	98	2.28e-9	SMART
low complexity region	218	253	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
RRM	419	497	1.35e-11	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
AA Change: R218S

Domain	Start	End	E-Value	Type
Blast:RRM	2	47	8e-22	BLAST
SCOP:d1urna_	3	53	4e-4	SMART
low complexity region	167	202	N/A	INTRINSIC
low complexity region	320	331	N/A	INTRINSIC
RRM	368	446	1.35e-11	SMART

Coding Region Coverage

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

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	Het

Other mutations in Rnpc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02365:Rnpc3	APN	3	113608399	missense	probably damaging	1.00
IGL02750:Rnpc3	APN	3	113621939	missense	possibly damaging	0.81
R0316:Rnpc3	UTSW	3	113629973	missense	probably damaging	1.00
R0420:Rnpc3	UTSW	3	113621869	missense	probably benign	0.00
R0601:Rnpc3	UTSW	3	113620106	missense	probably benign	0.18
R1051:Rnpc3	UTSW	3	113629946	missense	possibly damaging	0.94
R1386:Rnpc3	UTSW	3	113613784	nonsense	probably null
R1865:Rnpc3	UTSW	3	113621910	nonsense	probably null
R1870:Rnpc3	UTSW	3	113611055	unclassified	probably benign
R2045:Rnpc3	UTSW	3	113608360	missense	possibly damaging	0.90
R4447:Rnpc3	UTSW	3	113611137	unclassified	probably benign
R4450:Rnpc3	UTSW	3	113611137	unclassified	probably benign
R4934:Rnpc3	UTSW	3	113624979	missense	possibly damaging	0.86
R5436:Rnpc3	UTSW	3	113624999	missense	probably damaging	1.00
R5474:Rnpc3	UTSW	3	113615509	nonsense	probably null
R5498:Rnpc3	UTSW	3	113611207	critical splice donor site	probably null
R5505:Rnpc3	UTSW	3	113615453	missense	probably damaging	0.98
R5868:Rnpc3	UTSW	3	113616711	splice site	probably null
R6123:Rnpc3	UTSW	3	113609056	splice site	probably null
R7220:Rnpc3	UTSW	3	113628355	missense	probably benign	0.01
R7507:Rnpc3	UTSW	3	113616761	missense	probably benign
R7537:Rnpc3	UTSW	3	113613832	missense	probably benign
R7818:Rnpc3	UTSW	3	113629951	missense	probably damaging	1.00
R7872:Rnpc3	UTSW	3	113622447	nonsense	probably null
R8738:Rnpc3	UTSW	3	113621156	missense	probably benign	0.13
R9269:Rnpc3	UTSW	3	113611246	missense	probably damaging	0.97
R9375:Rnpc3	UTSW	3	113611264	missense	probably damaging	1.00
RF023:Rnpc3	UTSW	3	113620074	missense	probably damaging	0.98
X0012:Rnpc3	UTSW	3	113629909	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGGTCAACAAAGTAAACTGAC -3'
(R):5'- GGAACCAGATGCTTGCTTATTG -3'

Sequencing Primer
(F):5'- GGTCAACAAAGTAAACTGACAAACTG -3'
(R):5'- ATGGTGCAGGTTAATTTAGAAAGTG -3'

Posted On

2019-06-26