Incidental Mutation 'R9480:Nxt2'
ID 716216
Institutional Source Beutler Lab
Gene Symbol Nxt2
Ensembl Gene ENSMUSG00000042271
Gene Name nuclear transport factor 2-like export factor 2
Synonyms P15-2, 6330587F24Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R9480 (G1)
Quality Score 221.999
Status Not validated
Chromosome X
Chromosomal Location 141009766-141022688 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 141020747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 118 (A118V)
Ref Sequence ENSEMBL: ENSMUSP00000108536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042329] [ENSMUST00000112913] [ENSMUST00000112914] [ENSMUST00000112916]
AlphaFold Q3UNA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000042329
AA Change: A118V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048221
Gene: ENSMUSG00000042271
AA Change: A118V

DomainStartEndE-ValueType
Pfam:NTF2 17 136 3.5e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112913
AA Change: A90V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108535
Gene: ENSMUSG00000042271
AA Change: A90V

DomainStartEndE-ValueType
Pfam:NTF2 1 108 1.4e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112914
AA Change: A118V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108536
Gene: ENSMUSG00000042271
AA Change: A118V

DomainStartEndE-ValueType
Pfam:NTF2 17 136 3.5e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112916
AA Change: A174V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108538
Gene: ENSMUSG00000042271
AA Change: A174V

DomainStartEndE-ValueType
Pfam:NTF2 73 192 1.5e-31 PFAM
Meta Mutation Damage Score 0.4261 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,211,889 (GRCm39) W142R probably damaging Het
Abcc6 A G 7: 45,629,197 (GRCm39) S1350P probably damaging Het
Abraxas2 G T 7: 132,473,323 (GRCm39) V84L probably benign Het
Adam12 T A 7: 133,736,470 (GRCm39) I81F probably damaging Het
Adam22 A G 5: 8,193,077 (GRCm39) V376A probably benign Het
Anapc11 T A 11: 120,496,176 (GRCm39) I60N probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,690,420 (GRCm39) V876E possibly damaging Het
Bcar3 C T 3: 122,277,618 (GRCm39) R21* probably null Het
Calb1 T A 4: 15,885,608 (GRCm39) S60T probably benign Het
Ceacam9 A G 7: 16,457,783 (GRCm39) T99A probably damaging Het
Cemip2 C A 19: 21,775,622 (GRCm39) H288Q possibly damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cnot1 T C 8: 96,497,338 (GRCm39) D213G possibly damaging Het
Col23a1 T A 11: 51,207,774 (GRCm39) C105S unknown Het
Cxcl2 T C 5: 91,052,029 (GRCm39) V45A possibly damaging Het
Ddx21 T C 10: 62,434,652 (GRCm39) T36A probably benign Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dus2 C T 8: 106,757,052 (GRCm39) Q81* probably null Het
Fat3 T C 9: 15,942,703 (GRCm39) D1223G probably damaging Het
Fgf3 G T 7: 144,396,619 (GRCm39) R211L possibly damaging Het
Galnt17 T A 5: 130,935,576 (GRCm39) E369V probably damaging Het
Gatad2a T C 8: 70,388,459 (GRCm39) D76G probably damaging Het
Gin1 A G 1: 97,705,198 (GRCm39) E96G probably damaging Het
Gpr55 A C 1: 85,868,977 (GRCm39) Y201* probably null Het
Hgsnat T C 8: 26,442,029 (GRCm39) N499D possibly damaging Het
Hipk2 G T 6: 38,680,377 (GRCm39) P988T probably benign Het
Hivep1 A T 13: 42,337,058 (GRCm39) Q2379L probably damaging Het
Kat14 T A 2: 144,215,745 (GRCm39) C77S probably damaging Het
Klhl25 T C 7: 75,516,120 (GRCm39) V342A probably damaging Het
Krt35 T C 11: 99,986,609 (GRCm39) Q135R probably benign Het
Lhfpl2 T A 13: 94,310,733 (GRCm39) M1K probably null Het
Lipk T A 19: 33,999,101 (GRCm39) L132Q probably damaging Het
Lrrc39 T A 3: 116,359,475 (GRCm39) C7S probably benign Het
Ltb4r2 T A 14: 56,000,089 (GRCm39) W237R probably damaging Het
Mesp2 A G 7: 79,461,034 (GRCm39) I120V probably damaging Het
Mfsd6 A G 1: 52,699,835 (GRCm39) V771A unknown Het
Mtfmt A T 9: 65,351,181 (GRCm39) T243S possibly damaging Het
Nlrp12 A T 7: 3,288,993 (GRCm39) C506* probably null Het
Ntng2 T A 2: 29,137,997 (GRCm39) Y19F probably damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
P4hb A T 11: 120,463,551 (GRCm39) V28D probably damaging Het
Phkb T G 8: 86,684,216 (GRCm39) S424R probably benign Het
Poldip2 T C 11: 78,411,988 (GRCm39) L308S probably damaging Het
Prkd1 T A 12: 50,435,283 (GRCm39) E481D probably benign Het
Serping1 C T 2: 84,600,487 (GRCm39) S285N probably benign Het
Sh2d2a A C 3: 87,759,638 (GRCm39) I350L probably benign Het
Siglecf G T 7: 43,001,666 (GRCm39) V159L possibly damaging Het
Sspo A G 6: 48,470,820 (GRCm39) N36S probably damaging Het
Sytl2 C T 7: 90,020,718 (GRCm39) T147M possibly damaging Het
Tmc7 A G 7: 118,141,226 (GRCm39) F635S probably benign Het
Tmco1 C T 1: 167,157,757 (GRCm39) L175F Het
Ttc39d A G 17: 80,524,139 (GRCm39) H266R probably benign Het
Usp33 T G 3: 152,079,086 (GRCm39) I446R possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zbtb49 T A 5: 38,358,409 (GRCm39) T615S possibly damaging Het
Zbtb8a G T 4: 129,253,875 (GRCm39) H206Q probably benign Het
Zfp180 A G 7: 23,804,628 (GRCm39) N349S probably benign Het
Zfp345 A T 2: 150,315,212 (GRCm39) C108* probably null Het
Zfp420 T A 7: 29,575,497 (GRCm39) H572Q probably benign Het
Zfp423 A G 8: 88,631,115 (GRCm39) probably null Het
Zfp820 T A 17: 22,037,994 (GRCm39) T445S possibly damaging Het
Zim1 T C 7: 6,681,050 (GRCm39) I204M probably benign Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Other mutations in Nxt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R9016:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9018:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9064:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9065:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9066:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9114:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9115:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9144:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9145:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9146:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9147:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9148:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9149:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9326:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9327:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
R9521:Nxt2 UTSW X 141,020,747 (GRCm39) missense possibly damaging 0.78
X0064:Nxt2 UTSW X 141,012,590 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- GATGCCTGCTTAAAGTACAGAATAG -3'
(R):5'- TCCAAACTGGCAGCTGATCTAG -3'

Sequencing Primer
(F):5'- GCTAAAGAGCAAGCTACCC -3'
(R):5'- TGGACCAATAGAGTGGGT -3'
Posted On 2022-07-18