Incidental Mutation 'IGL01983:Nxph2'
ID 183524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxph2
Ensembl Gene ENSMUSG00000069132
Gene Name neurexophilin 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01983
Quality Score
Status
Chromosome 2
Chromosomal Location 23211258-23291985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23289946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 99 (I99M)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
AlphaFold Q61199
Predicted Effect probably benign
Transcript: ENSMUST00000102945
AA Change: I99M

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: I99M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neurexophilin 50 261 7.9e-99 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,880,783 (GRCm39) Q328* probably null Het
Alpk2 T C 18: 65,483,753 (GRCm39) Y85C probably damaging Het
Arhgap31 C T 16: 38,422,127 (GRCm39) R1313Q probably damaging Het
Chrnb1 G T 11: 69,686,555 (GRCm39) R22S probably benign Het
Clec7a G A 6: 129,442,539 (GRCm39) probably benign Het
Cyrib A G 15: 63,809,236 (GRCm39) S251P probably benign Het
Epb41l5 A G 1: 119,506,814 (GRCm39) probably benign Het
Hdac1-ps T A 17: 78,800,282 (GRCm39) D424E probably benign Het
Hydin A C 8: 111,241,527 (GRCm39) I2106L probably benign Het
Igkv3-5 T A 6: 70,640,670 (GRCm39) D50E probably benign Het
Irf2bp1 G T 7: 18,739,220 (GRCm39) A287S possibly damaging Het
Ldb3 G A 14: 34,299,156 (GRCm39) S156L probably benign Het
Lnpep A T 17: 17,751,440 (GRCm39) W942R probably damaging Het
Mst1r T A 9: 107,794,475 (GRCm39) V1218D probably damaging Het
Naxd G T 8: 11,560,218 (GRCm39) probably benign Het
Nol9 T C 4: 152,130,494 (GRCm39) probably null Het
Nus1 T A 10: 52,312,753 (GRCm39) L295Q probably damaging Het
Plekhg1 T A 10: 3,895,904 (GRCm39) I432N probably damaging Het
Pon3 A G 6: 5,240,974 (GRCm39) L69S probably damaging Het
Pram1 C A 17: 33,859,835 (GRCm39) A134D probably damaging Het
Serpinb6c T A 13: 34,081,317 (GRCm39) probably benign Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tbc1d10c T A 19: 4,240,708 (GRCm39) Q34L possibly damaging Het
Tnr G A 1: 159,691,349 (GRCm39) V500I probably benign Het
Trim66 G A 7: 109,057,458 (GRCm39) R992* probably null Het
Unc45b A G 11: 82,827,687 (GRCm39) D728G probably benign Het
Usp13 A G 3: 32,971,608 (GRCm39) D696G probably damaging Het
Utrn C T 10: 12,545,525 (GRCm39) V1707I probably benign Het
Vmn2r96 A T 17: 18,817,527 (GRCm39) H368L probably damaging Het
Xrn1 T C 9: 95,855,421 (GRCm39) probably null Het
Zfhx3 C A 8: 109,673,866 (GRCm39) L1639M probably damaging Het
Znfx1 A T 2: 166,898,270 (GRCm39) V218E probably damaging Het
Other mutations in Nxph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Nxph2 APN 2 23,290,334 (GRCm39) missense probably damaging 1.00
IGL00655:Nxph2 APN 2 23,290,153 (GRCm39) missense possibly damaging 0.53
IGL00861:Nxph2 APN 2 23,289,974 (GRCm39) missense probably damaging 1.00
IGL01358:Nxph2 APN 2 23,290,086 (GRCm39) missense probably damaging 1.00
IGL01733:Nxph2 APN 2 23,290,137 (GRCm39) missense probably benign 0.00
IGL02739:Nxph2 APN 2 23,289,912 (GRCm39) missense probably benign 0.06
IGL02983:Nxph2 APN 2 23,290,374 (GRCm39) missense probably damaging 1.00
IGL03013:Nxph2 APN 2 23,289,945 (GRCm39) missense probably benign 0.08
R4392:Nxph2 UTSW 2 23,290,284 (GRCm39) missense probably damaging 0.99
R4796:Nxph2 UTSW 2 23,289,870 (GRCm39) missense probably benign 0.00
R4877:Nxph2 UTSW 2 23,289,846 (GRCm39) missense probably benign 0.00
R5038:Nxph2 UTSW 2 23,211,556 (GRCm39) splice site probably null
R8057:Nxph2 UTSW 2 23,290,107 (GRCm39) missense possibly damaging 0.89
R8461:Nxph2 UTSW 2 23,211,529 (GRCm39) missense unknown
R8869:Nxph2 UTSW 2 23,290,071 (GRCm39) missense probably damaging 1.00
R9100:Nxph2 UTSW 2 23,289,780 (GRCm39) missense probably benign 0.13
R9704:Nxph2 UTSW 2 23,289,723 (GRCm39) missense probably benign 0.00
RF004:Nxph2 UTSW 2 23,290,080 (GRCm39) missense probably damaging 1.00
Z1088:Nxph2 UTSW 2 23,290,229 (GRCm39) missense probably benign 0.10
Posted On 2014-05-07