Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02875:Ncbp2'

406175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncbp2

Ensembl Gene

ENSMUSG00000022774

Gene Name

nuclear cap binding protein subunit 2

Synonyms

20kDa

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02875

Quality Score

Status

Chromosome

Chromosomal Location

31767364-31777290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31772971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 36 (L36Q)

Ref Sequence

ENSEMBL: ENSMUSP00000156386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023460] [ENSMUST00000115178] [ENSMUST00000126215]

AlphaFold

Q9CQ49

Predicted Effect

probably damaging
Transcript: ENSMUST00000023460
AA Change: L36Q

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

SMART Domains

Protein: ENSMUSP00000023460
Gene: ENSMUSG00000022774
AA Change: L36Q

Domain	Start	End	E-Value	Type
RRM	41	114	6.96e-23	SMART
low complexity region	122	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115178

SMART Domains

Protein: ENSMUSP00000110832
Gene: ENSMUSG00000022774

Domain	Start	End	E-Value	Type
PDB:3FEY\|B	1	103	7e-42	PDB
Blast:RRM	41	61	2e-6	BLAST
SCOP:d1qm9a1	41	97	4e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126215
AA Change: L36Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140965

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,293 (GRCm39)	I397V	possibly damaging	Het
Asph	A	G	4: 9,595,380 (GRCm39)	S281P	probably damaging	Het
Bdnf	T	C	2: 109,554,196 (GRCm39)	V150A	probably damaging	Het
Birc6	T	C	17: 74,896,713 (GRCm39)	V1053A	probably damaging	Het
Btg4	T	A	9: 51,030,446 (GRCm39)	F182Y	probably benign	Het
Casc3	T	G	11: 98,712,378 (GRCm39)	V139G	probably damaging	Het
Ccno	C	A	13: 113,124,586 (GRCm39)	P52Q	possibly damaging	Het
Cdk1	T	G	10: 69,178,366 (GRCm39)		probably benign	Het
Daam2	A	C	17: 49,771,056 (GRCm39)	I887S	probably damaging	Het
Dmrta1	A	G	4: 89,579,985 (GRCm39)	D315G	possibly damaging	Het
Dnah6	T	C	6: 73,115,698 (GRCm39)	I1515V	probably damaging	Het
Dock7	A	T	4: 98,864,231 (GRCm39)	I1241K	probably benign	Het
Fam180a	T	C	6: 35,290,617 (GRCm39)	D122G	probably damaging	Het
Gm11992	C	T	11: 9,002,887 (GRCm39)		probably benign	Het
Il1b	A	G	2: 129,209,171 (GRCm39)	I153T	probably benign	Het
Kntc1	C	A	5: 123,916,340 (GRCm39)		probably null	Het
Krt77	T	C	15: 101,777,584 (GRCm39)	D157G	probably damaging	Het
Lmbr1	A	G	5: 29,497,186 (GRCm39)	S72P	probably damaging	Het
Mphosph9	T	A	5: 124,421,800 (GRCm39)		probably null	Het
Mpp4	C	T	1: 59,175,993 (GRCm39)		probably null	Het
Or2b7	T	A	13: 21,740,172 (GRCm39)	S7C	probably damaging	Het
Or4a72	T	C	2: 89,405,896 (GRCm39)	Y58C	probably damaging	Het
Or8b3	A	G	9: 38,314,472 (GRCm39)	M101V	probably damaging	Het
Oscp1	A	G	4: 125,970,601 (GRCm39)	D130G	probably damaging	Het
Pls1	A	T	9: 95,636,404 (GRCm39)	M615K	possibly damaging	Het
Prep	C	A	10: 45,034,529 (GRCm39)	H680Q	probably damaging	Het
Rad1	T	C	15: 10,493,365 (GRCm39)	I264T	probably benign	Het
Rhbdf1	A	G	11: 32,163,293 (GRCm39)	V393A	possibly damaging	Het
Skint3	A	T	4: 112,113,079 (GRCm39)	I230L	possibly damaging	Het
Slc9b1	T	A	3: 135,080,167 (GRCm39)		probably benign	Het
Slfn3	T	C	11: 83,104,253 (GRCm39)	Y375H	probably damaging	Het
Ssrp1	T	A	2: 84,871,264 (GRCm39)	I257N	probably damaging	Het
Svep1	A	G	4: 58,082,821 (GRCm39)		probably benign	Het
Tcl1b2	T	C	12: 105,120,358 (GRCm39)	*118Q	probably null	Het
Thsd7b	A	G	1: 129,879,130 (GRCm39)	Y989C	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vmn2r42	T	C	7: 8,197,852 (GRCm39)	T256A	probably benign	Het

Other mutations in Ncbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1929:Ncbp2	UTSW	16	31,775,769 (GRCm39)	missense	probably damaging	0.99
R2185:Ncbp2	UTSW	16	31,775,195 (GRCm39)	missense	probably damaging	1.00
R2270:Ncbp2	UTSW	16	31,775,769 (GRCm39)	missense	probably damaging	0.99
R2271:Ncbp2	UTSW	16	31,775,769 (GRCm39)	missense	probably damaging	0.99
R2272:Ncbp2	UTSW	16	31,775,769 (GRCm39)	missense	probably damaging	0.99
R6405:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R6406:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R6406:Ncbp2	UTSW	16	31,775,159 (GRCm39)	frame shift	probably null
R6444:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R6446:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R6448:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R6530:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R6531:Ncbp2	UTSW	16	31,775,161 (GRCm39)	frame shift	probably null
R9556:Ncbp2	UTSW	16	31,775,758 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02