Incidental Mutation 'IGL01752:Neurod2'
ID278847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neurod2
Ensembl Gene ENSMUSG00000038255
Gene Nameneurogenic differentiation 2
SynonymsbHLHa1, Ndrf
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock #IGL01752
Quality Score
Status
Chromosome11
Chromosomal Location98325415-98329648 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98327375 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 321 (E321G)
Ref Sequence ENSEMBL: ENSMUSP00000041373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041685]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041685
AA Change: E321G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: E321G

DomainStartEndE-ValueType
low complexity region 34 57 N/A INTRINSIC
low complexity region 76 111 N/A INTRINSIC
HLH 128 180 4.19e-17 SMART
Pfam:Neuro_bHLH 181 311 5.7e-43 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. Heterozygotes are moderately affected, and adults are subject to unexplained death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lox A G 18: 52,520,854 V390A possibly damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Phf10 A G 17: 14,954,950 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Ssu2 T A 6: 112,375,592 K279N probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Twsg1 T C 17: 65,929,784 T84A probably benign Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Zfp52 T G 17: 21,560,150 C87G probably benign Het
Other mutations in Neurod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Neurod2 APN 11 98327769 missense probably damaging 1.00
IGL01751:Neurod2 APN 11 98327375 missense possibly damaging 0.94
IGL02661:Neurod2 APN 11 98327579 missense possibly damaging 0.65
hesitate UTSW 11 98327756 missense probably damaging 1.00
selection UTSW 11 98327321 missense probably benign 0.01
PIT4362001:Neurod2 UTSW 11 98327882 missense probably damaging 1.00
R0904:Neurod2 UTSW 11 98327321 missense probably benign 0.01
R0989:Neurod2 UTSW 11 98327979 missense probably damaging 1.00
R1290:Neurod2 UTSW 11 98327288 missense possibly damaging 0.69
R1564:Neurod2 UTSW 11 98327424 missense probably damaging 0.96
R1712:Neurod2 UTSW 11 98327203 missense probably damaging 1.00
R1901:Neurod2 UTSW 11 98327732 missense probably damaging 1.00
R2129:Neurod2 UTSW 11 98327588 missense possibly damaging 0.73
R2267:Neurod2 UTSW 11 98327756 missense probably damaging 1.00
R3754:Neurod2 UTSW 11 98327700 missense probably damaging 1.00
R4421:Neurod2 UTSW 11 98328200 nonsense probably null
R5067:Neurod2 UTSW 11 98327237 missense possibly damaging 0.71
R5181:Neurod2 UTSW 11 98327378 missense probably benign 0.43
R7922:Neurod2 UTSW 11 98327628 missense probably benign 0.00
R7976:Neurod2 UTSW 11 98327197 missense probably damaging 0.97
Posted On2015-04-16