Incidental Mutation 'R6406:Ncbp2'
ID 516322
Institutional Source Beutler Lab
Gene Symbol Ncbp2
Ensembl Gene ENSMUSG00000022774
Gene Name nuclear cap binding protein subunit 2
Synonyms 20kDa
MMRRC Submission 044551-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6406 (G1)
Quality Score 164.468
Status Validated
Chromosome 16
Chromosomal Location 31767364-31777290 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTCGTCTGG to C at 31775159 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (48/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C T 17: 45,817,865 (GRCm39) P29L probably benign Het
Acsm1 A G 7: 119,261,484 (GRCm39) N567S probably benign Het
Ahi1 T G 10: 20,852,948 (GRCm39) N505K probably damaging Het
Ank2 T A 3: 126,825,874 (GRCm39) D356V probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifb6 C A 2: 153,746,457 (GRCm39) T117K possibly damaging Het
C2cd6 T C 1: 59,097,835 (GRCm39) E418G possibly damaging Het
Cbx1 A T 11: 96,692,364 (GRCm39) K84* probably null Het
Cr2 A G 1: 194,852,079 (GRCm39) L90P probably damaging Het
Dclk1 A G 3: 55,387,827 (GRCm39) D91G probably damaging Het
Dock1 C A 7: 134,747,215 (GRCm39) Q1509K probably benign Het
Fzd1 T G 5: 4,806,089 (GRCm39) T498P probably damaging Het
Galnt12 A G 4: 47,122,534 (GRCm39) N271S probably benign Het
Gm12888 A G 4: 121,176,654 (GRCm39) I49T possibly damaging Het
Gria4 A T 9: 4,427,077 (GRCm39) W788R probably damaging Het
Ilf3 C T 9: 21,307,540 (GRCm39) A379V probably damaging Het
Islr2 A G 9: 58,107,263 (GRCm39) V43A probably benign Het
Jag1 T A 2: 136,929,563 (GRCm39) N782I probably damaging Het
Klhl8 T A 5: 104,010,981 (GRCm39) I539F possibly damaging Het
Lama5 A T 2: 179,839,257 (GRCm39) C750* probably null Het
Lrrc37a T A 11: 103,388,361 (GRCm39) T2355S unknown Het
Lrrc8a A G 2: 30,147,103 (GRCm39) H639R possibly damaging Het
Map1a A T 2: 121,131,224 (GRCm39) D442V probably damaging Het
Mier3 T C 13: 111,846,343 (GRCm39) probably null Het
Msantd1 C A 5: 35,080,665 (GRCm39) probably null Het
Ncapd2 C A 6: 125,150,841 (GRCm39) A785S probably benign Het
Ndst4 T C 3: 125,232,150 (GRCm39) S240P probably benign Het
Nek9 T C 12: 85,385,946 (GRCm39) D17G probably damaging Het
Nkx6-1 C T 5: 101,811,677 (GRCm39) A142T unknown Het
Nt5dc1 T C 10: 34,200,404 (GRCm39) H205R probably benign Het
Or5b94 T C 19: 12,652,184 (GRCm39) I205T probably benign Het
Or9g3 T A 2: 85,590,651 (GRCm39) Q23L possibly damaging Het
Pafah1b1 A G 11: 74,573,098 (GRCm39) M322T probably benign Het
Parp2 A G 14: 51,056,934 (GRCm39) N353D probably benign Het
Pdcd6ip T C 9: 113,503,412 (GRCm39) N452S possibly damaging Het
Pkd1l2 A G 8: 117,762,586 (GRCm39) V1397A probably damaging Het
Prkdc T A 16: 15,535,665 (GRCm39) L1675Q probably damaging Het
Ptprt T C 2: 161,395,703 (GRCm39) I1157V probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Sele G T 1: 163,878,312 (GRCm39) C217F probably damaging Het
Spats1 T A 17: 45,768,191 (GRCm39) H125L probably damaging Het
Stard3 T C 11: 98,269,595 (GRCm39) V330A probably benign Het
Synj2 T A 17: 6,069,846 (GRCm39) probably benign Het
Thoc1 T A 18: 9,977,963 (GRCm39) F301L probably damaging Het
Thumpd3 G A 6: 113,032,924 (GRCm39) E221K probably damaging Het
Trim61 T C 8: 65,466,377 (GRCm39) T295A possibly damaging Het
Trp53bp1 T C 2: 121,101,093 (GRCm39) Q35R probably damaging Het
Tsnaxip1 C T 8: 106,570,615 (GRCm39) T578I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTGCCCAGAAGTCGTGTTAGA -3'
(R):5'- CACTAACAAGCACAAGTTCCTT -3'

Sequencing Primer
(F):5'- CCAGAAGTCGTGTTAGACCAACTTTG -3'
(R):5'- TAACAAGCACAAGTTCCTTACAAAAG -3'
Posted On 2018-05-04