Incidental Mutation 'IGL02983:Nxph2'
ID406635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxph2
Ensembl Gene ENSMUSG00000069132
Gene Nameneurexophilin 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02983
Quality Score
Status
Chromosome2
Chromosomal Location23321246-23401973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23400362 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
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
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Nxph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Nxph2 APN 2 23400322 missense probably damaging 1.00
IGL00655:Nxph2 APN 2 23400141 missense possibly damaging 0.53
IGL00861:Nxph2 APN 2 23399962 missense probably damaging 1.00
IGL01358:Nxph2 APN 2 23400074 missense probably damaging 1.00
IGL01733:Nxph2 APN 2 23400125 missense probably benign 0.00
IGL01983:Nxph2 APN 2 23399934 missense probably benign 0.32
IGL02739:Nxph2 APN 2 23399900 missense probably benign 0.06
IGL03013:Nxph2 APN 2 23399933 missense probably benign 0.08
R4392:Nxph2 UTSW 2 23400272 missense probably damaging 0.99
R4796:Nxph2 UTSW 2 23399858 missense probably benign 0.00
R4877:Nxph2 UTSW 2 23399834 missense probably benign 0.00
R5038:Nxph2 UTSW 2 23321544 splice site probably null
R8057:Nxph2 UTSW 2 23400095 missense possibly damaging 0.89
RF004:Nxph2 UTSW 2 23400068 missense probably damaging 1.00
Z1088:Nxph2 UTSW 2 23400217 missense probably benign 0.10
Posted On2016-08-02