Incidental Mutation 'IGL02983:Nxph2'
ID 406635
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 # IGL02983
Quality Score
Status
Chromosome 2
Chromosomal Location 23211258-23291985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23290374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
AlphaFold Q61199
Predicted Effect probably damaging
Transcript: ENSMUST00000102945
AA Change: V242A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: V242A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,240,663 (GRCm39) N842S probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Brip1 T C 11: 86,029,950 (GRCm39) I565V probably benign Het
Camta2 C T 11: 70,562,848 (GRCm39) R959Q probably damaging Het
Cbln2 A G 18: 86,731,504 (GRCm39) E104G probably benign Het
Cdc42ep4 T C 11: 113,619,995 (GRCm39) K132R probably benign Het
Clcnka T A 4: 141,117,442 (GRCm39) I452F probably damaging Het
Clec4a3 T A 6: 122,944,526 (GRCm39) probably null Het
Crat A C 2: 30,294,538 (GRCm39) probably null Het
Cspp1 A G 1: 10,197,750 (GRCm39) K227R probably benign Het
Ddx1 A T 12: 13,273,863 (GRCm39) I588N probably damaging Het
Dip2b G T 15: 100,029,903 (GRCm39) R98L possibly damaging Het
Dock5 G A 14: 68,002,119 (GRCm39) P1617L probably damaging Het
Fa2h C T 8: 112,073,154 (GRCm39) probably null Het
Fezf1 T A 6: 23,247,871 (GRCm39) N68I probably damaging Het
Gabrb2 A T 11: 42,312,227 (GRCm39) L17F probably benign Het
Gm17078 T C 14: 51,848,647 (GRCm39) K30R probably benign Het
Gramd4 G A 15: 86,011,219 (GRCm39) V249M probably damaging Het
Kcnd2 A C 6: 21,216,554 (GRCm39) D86A probably damaging Het
Lrp1 T C 10: 127,386,068 (GRCm39) E3486G probably damaging Het
Ltb A G 17: 35,413,646 (GRCm39) D50G probably benign Het
Med18 A T 4: 132,186,997 (GRCm39) Y167* probably null Het
Nat14 G A 7: 4,927,127 (GRCm39) A100T probably damaging Het
Nscme3l A G 19: 5,553,209 (GRCm39) F191L possibly damaging Het
Or1j10 T A 2: 36,267,649 (GRCm39) I287N probably damaging Het
Or1x2 T C 11: 50,918,207 (GRCm39) V126A probably damaging Het
Or2a55-ps1 T C 6: 43,071,582 (GRCm39) noncoding transcript Het
Or6c219 T A 10: 129,781,058 (GRCm39) N291I probably damaging Het
Pramel15 T C 4: 144,099,697 (GRCm39) E356G probably benign Het
Rad21l A G 2: 151,497,040 (GRCm39) L358S probably damaging Het
Rasgef1c A G 11: 49,847,876 (GRCm39) T4A possibly damaging Het
Spata31d1a A G 13: 59,851,508 (GRCm39) S207P possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Szt2 T C 4: 118,222,976 (GRCm39) probably benign Het
Taf6 T C 5: 138,177,142 (GRCm39) T642A probably benign Het
Tmem30a A T 9: 79,678,725 (GRCm39) M277K possibly damaging Het
Vmn1r86 T C 7: 12,836,741 (GRCm39) D45G probably damaging Het
Xkr5 T C 8: 18,983,848 (GRCm39) I565V probably benign Het
Zfp526 C T 7: 24,923,840 (GRCm39) A33V probably benign 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
IGL01983:Nxph2 APN 2 23,289,946 (GRCm39) missense probably benign 0.32
IGL02739:Nxph2 APN 2 23,289,912 (GRCm39) missense probably benign 0.06
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 2016-08-02