Incidental Mutation 'R9327:Nxt2'
ID 706613
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 # R9327 (G1)
Quality Score 221.999
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,895,499 (GRCm39) M194K probably benign Het
Abcg1 T C 17: 31,333,122 (GRCm39) S622P probably benign Het
Ahnak2 A T 12: 112,748,446 (GRCm39) V467E Het
Amdhd2 T C 17: 24,377,421 (GRCm39) E164G probably benign Het
Ank3 G A 10: 69,812,086 (GRCm39) probably null Het
Bank1 A T 3: 135,799,308 (GRCm39) N545K probably benign Het
C9orf72 A G 4: 35,205,883 (GRCm39) I247T Het
Cep63 T C 9: 102,467,723 (GRCm39) I548V probably benign Het
Col28a1 T C 6: 8,175,653 (GRCm39) D65G unknown Het
Cspg4b C A 13: 113,453,710 (GRCm39) Q58K Het
Cyp2c50 A G 19: 40,079,010 (GRCm39) N118D probably benign Het
Dock10 C T 1: 80,510,184 (GRCm39) C1549Y probably damaging Het
Epg5 A G 18: 77,991,435 (GRCm39) E44G probably benign Het
Ephb4 T C 5: 137,361,529 (GRCm39) S520P probably damaging Het
Eppk1 T C 15: 75,993,755 (GRCm39) E1042G probably benign Het
Fmod A T 1: 133,968,589 (GRCm39) N210Y probably damaging Het
Fpr3 A G 17: 18,191,713 (GRCm39) D328G probably damaging Het
Garem2 T G 5: 30,321,989 (GRCm39) C783G probably benign Het
Gm10542 A G 18: 44,337,689 (GRCm39) N56D probably damaging Het
Gm20939 T A 17: 95,184,424 (GRCm39) N357K probably benign Het
Hr A G 14: 70,805,228 (GRCm39) H990R possibly damaging Het
Il21r A G 7: 125,226,163 (GRCm39) N53S unknown Het
Insrr C T 3: 87,721,604 (GRCm39) T1170I probably damaging Het
Itga11 A G 9: 62,638,034 (GRCm39) M103V probably damaging Het
Izumo3 G T 4: 92,035,050 (GRCm39) Q56K probably damaging Het
Kcnh8 T C 17: 53,146,084 (GRCm39) V324A probably damaging Het
Kcnj2 T A 11: 110,963,719 (GRCm39) N370K probably benign Het
Klf16 G T 10: 80,412,688 (GRCm39) S116* probably null Het
Mettl16 T C 11: 74,696,089 (GRCm39) V310A probably benign Het
Misp3 G T 8: 84,737,080 (GRCm39) Q105K unknown Het
Mmrn2 G A 14: 34,097,473 (GRCm39) probably benign Het
Mtcl1 A G 17: 66,645,130 (GRCm39) L1888P probably damaging Het
Muc5ac A C 7: 141,365,429 (GRCm39) T1984P possibly damaging Het
Myo16 G T 8: 10,489,705 (GRCm39) probably null Het
Nckipsd T C 9: 108,691,699 (GRCm39) I466T possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npffr2 A G 5: 89,730,661 (GRCm39) H197R probably benign Het
Nrap T A 19: 56,340,100 (GRCm39) M842L probably benign Het
Nxpe4 G A 9: 48,309,984 (GRCm39) A416T probably benign Het
Or51t4 T C 7: 102,597,687 (GRCm39) V5A probably benign Het
Or52n20 A G 7: 104,320,742 (GRCm39) I278V probably damaging Het
Or5p53 T A 7: 107,533,019 (GRCm39) C97* probably null Het
Ppp1r15a C T 7: 45,174,035 (GRCm39) A258T possibly damaging Het
Prss36 A T 7: 127,532,570 (GRCm39) Y760* probably null Het
Psg26 T A 7: 18,216,480 (GRCm39) T120S probably damaging Het
Ptk7 A T 17: 46,878,977 (GRCm39) L908Q probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc25a44 A T 3: 88,328,025 (GRCm39) H155Q probably benign Het
Smarcc2 A G 10: 128,321,486 (GRCm39) T894A probably damaging Het
Tle4 A G 19: 14,574,149 (GRCm39) F39L probably damaging Het
Tmem181a G A 17: 6,346,048 (GRCm39) V181M possibly damaging Het
Tmt1b A G 10: 128,794,607 (GRCm39) M239T probably benign Het
Trpm3 T C 19: 22,896,004 (GRCm39) V947A possibly damaging Het
Txndc16 G A 14: 45,379,448 (GRCm39) T663I probably benign Het
Vmn2r45 T C 7: 8,474,532 (GRCm39) Y832C probably damaging Het
Vmn2r9 T C 5: 108,996,841 (GRCm39) T143A probably damaging Het
Vps26b T C 9: 26,930,750 (GRCm39) N82D probably benign Het
Zfp318 T G 17: 46,721,892 (GRCm39) F1298L probably damaging 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
R9480: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'- TGCCTGCTTAAAGTACAGAATAGTC -3'
(R):5'- CCAAACTGGCAGCTGATCTAG -3'

Sequencing Primer
(F):5'- CAGTGCCAAACTACAGTG -3'
(R):5'- TGGACCAATAGAGTGGGT -3'
Posted On 2022-04-18