Incidental Mutation 'IGL02875:Ncbp2'
ID406175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncbp2
Ensembl Gene ENSMUSG00000022774
Gene Namenuclear cap binding protein subunit 2
Synonyms20kDa
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02875
Quality Score
Status
Chromosome16
Chromosomal Location31948513-31961781 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31954153 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,291,949 I397V possibly damaging Het
Asph A G 4: 9,595,380 S281P probably damaging Het
Bdnf T C 2: 109,723,851 V150A probably damaging Het
Birc6 T C 17: 74,589,718 V1053A probably damaging Het
Btg4 T A 9: 51,119,146 F182Y probably benign Het
Casc3 T G 11: 98,821,552 V139G probably damaging Het
Ccno C A 13: 112,988,052 P52Q possibly damaging Het
Cdk1 T G 10: 69,342,536 probably benign Het
Daam2 A C 17: 49,464,028 I887S probably damaging Het
Dmrta1 A G 4: 89,691,748 D315G possibly damaging Het
Dnah6 T C 6: 73,138,715 I1515V probably damaging Het
Dock7 A T 4: 98,975,994 I1241K probably benign Het
Fam180a T C 6: 35,313,682 D122G probably damaging Het
Gm11992 C T 11: 9,052,887 probably benign Het
Il1b A G 2: 129,367,251 I153T probably benign Het
Kntc1 C A 5: 123,778,277 probably null Het
Krt77 T C 15: 101,869,149 D157G probably damaging Het
Lmbr1 A G 5: 29,292,188 S72P probably damaging Het
Mphosph9 T A 5: 124,283,737 probably null Het
Mpp4 C T 1: 59,136,834 probably null Het
Olfr1245 T C 2: 89,575,552 Y58C probably damaging Het
Olfr147 A G 9: 38,403,176 M101V probably damaging Het
Olfr1535 T A 13: 21,556,002 S7C probably damaging Het
Oscp1 A G 4: 126,076,808 D130G probably damaging Het
Pls1 A T 9: 95,754,351 M615K possibly damaging Het
Prep C A 10: 45,158,433 H680Q probably damaging Het
Rad1 T C 15: 10,493,279 I264T probably benign Het
Rhbdf1 A G 11: 32,213,293 V393A possibly damaging Het
Skint3 A T 4: 112,255,882 I230L possibly damaging Het
Slc9b1 T A 3: 135,374,406 probably benign Het
Slfn3 T C 11: 83,213,427 Y375H probably damaging Het
Ssrp1 T A 2: 85,040,920 I257N probably damaging Het
Svep1 A G 4: 58,082,821 probably benign Het
Tcl1b2 T C 12: 105,154,099 *118Q probably null Het
Thsd7b A G 1: 129,951,393 Y989C probably damaging Het
Trim58 C T 11: 58,640,466 probably benign Het
Vmn2r42 T C 7: 8,194,853 T256A probably benign Het
Other mutations in Ncbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1929:Ncbp2 UTSW 16 31956951 missense probably damaging 0.99
R2185:Ncbp2 UTSW 16 31956377 missense probably damaging 1.00
R2270:Ncbp2 UTSW 16 31956951 missense probably damaging 0.99
R2271:Ncbp2 UTSW 16 31956951 missense probably damaging 0.99
R2272:Ncbp2 UTSW 16 31956951 missense probably damaging 0.99
R6405:Ncbp2 UTSW 16 31956343 frame shift probably null
R6406:Ncbp2 UTSW 16 31956341 frame shift probably null
R6406:Ncbp2 UTSW 16 31956343 frame shift probably null
R6444:Ncbp2 UTSW 16 31956343 frame shift probably null
R6446:Ncbp2 UTSW 16 31956343 frame shift probably null
R6448:Ncbp2 UTSW 16 31956343 frame shift probably null
R6530:Ncbp2 UTSW 16 31956343 frame shift probably null
R6531:Ncbp2 UTSW 16 31956343 frame shift probably null
Posted On2016-08-02