Incidental Mutation 'R6446:Ncbp2'
ID 519206
Institutional Source Beutler Lab
Gene Symbol Ncbp2
Ensembl Gene ENSMUSG00000022774
Gene Name nuclear cap binding protein subunit 2
Synonyms 20kDa
MMRRC Submission 044583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6446 (G1)
Quality Score 217.468
Status Validated
Chromosome 16
Chromosomal Location 31767364-31777290 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CGTCTGGATG to CG at 31775161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023460] [ENSMUST00000115178] [ENSMUST00000126215] [ENSMUST00000231360]
AlphaFold Q9CQ49
Predicted Effect probably null
Transcript: ENSMUST00000023460
SMART Domains Protein: ENSMUSP00000023460
Gene: ENSMUSG00000022774

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 null
Transcript: ENSMUST00000126215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140965
Predicted Effect probably benign
Transcript: ENSMUST00000231360
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
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
Atp13a3 A G 16: 30,180,687 (GRCm39) L114P probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,905,992 (GRCm39) I196V probably benign Het
Cbx2 T A 11: 118,918,752 (GRCm39) S106T probably benign Het
Ccar2 T A 14: 70,380,518 (GRCm39) E354V probably benign Het
Ccr1 A G 9: 123,764,143 (GRCm39) I129T probably damaging Het
Cdkl2 T A 5: 92,181,076 (GRCm39) I188F probably damaging Het
Cep350 T C 1: 155,737,900 (GRCm39) N2648D probably benign Het
Chtf18 A G 17: 25,940,218 (GRCm39) S658P probably benign Het
Csnka2ip G A 16: 64,299,744 (GRCm39) Q207* probably null Het
Dennd5a A G 7: 109,493,873 (GRCm39) L1253P probably damaging Het
Dennd6a T A 14: 26,350,689 (GRCm39) I374K probably damaging Het
Dut T C 2: 125,092,939 (GRCm39) probably null Het
Gcm1 T C 9: 77,967,065 (GRCm39) Y95H probably benign Het
Grid2 A T 6: 64,322,577 (GRCm39) I526F probably damaging Het
Hectd4 T A 5: 121,472,438 (GRCm39) Y2725N possibly damaging Het
Helq A T 5: 100,916,250 (GRCm39) N907K possibly damaging Het
Hpse G A 5: 100,843,435 (GRCm39) Q246* probably null Het
Iigp1c A G 18: 60,378,840 (GRCm39) D125G probably damaging Het
Kcnj15 C T 16: 95,097,118 (GRCm39) H247Y probably benign Het
Kif27 C A 13: 58,493,530 (GRCm39) V138F probably damaging Het
Map7 T G 10: 20,153,979 (GRCm39) D698E unknown Het
Mtmr11 A T 3: 96,078,504 (GRCm39) S687C probably benign Het
Nup210l G A 3: 90,079,375 (GRCm39) G953E probably damaging Het
Or14c45 T A 7: 86,176,310 (GRCm39) I115N possibly damaging Het
Piezo2 G T 18: 63,219,678 (GRCm39) P792T probably damaging Het
Pld3 T C 7: 27,237,156 (GRCm39) D241G probably damaging Het
Prss35 G T 9: 86,637,706 (GRCm39) V159F probably damaging Het
Rimbp3 A T 16: 17,030,793 (GRCm39) M1406L probably benign Het
Serpina3g T C 12: 104,205,341 (GRCm39) F27L probably damaging Het
Setd1b G A 5: 123,299,862 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,411,366 (GRCm39) K13E probably damaging Het
Slc29a1 A T 17: 45,900,171 (GRCm39) I217N possibly damaging Het
Spag17 A T 3: 100,010,448 (GRCm39) T1981S probably benign Het
Svil A C 18: 5,057,323 (GRCm39) E590D probably benign Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Vmn2r108 A T 17: 20,692,609 (GRCm39) Y82* probably null Het
Other mutations in Ncbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02875:Ncbp2 APN 16 31,772,971 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCCCAGAAGTCGTGTTAGACC -3'
(R):5'- CACTAACAAGCACAAGTTCCTT -3'

Sequencing Primer
(F):5'- CCAGAAGTCGTGTTAGACCAACTTTG -3'
(R):5'- TAACAAGCACAAGTTCCTTACAAAAG -3'
Posted On 2018-05-24