Incidental Mutation 'IGL00897:Neurod2'
ID28468
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 #IGL00897
Quality Score
Status
Chromosome11
Chromosomal Location98325415-98329648 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98327769 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 190 (V190M)
Ref Sequence ENSEMBL: ENSMUSP00000041373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041685]
Predicted Effect probably damaging
Transcript: ENSMUST00000041685
AA Change: V190M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: V190M

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,216,125 probably benign Het
Arsi A G 18: 60,912,430 Y64C probably damaging Het
Ascc3 A T 10: 50,728,091 E1302D probably benign Het
Aspm T C 1: 139,477,407 I1344T probably damaging Het
Atp2b1 T C 10: 99,015,020 I924T possibly damaging Het
Ccnb1 A G 13: 100,785,911 probably benign Het
Cps1 A G 1: 67,215,564 D1304G probably benign Het
Ctsq C A 13: 61,037,725 V201F probably damaging Het
Epb41 T A 4: 132,000,197 probably null Het
Fam196b T C 11: 34,403,011 V351A probably benign Het
Fat2 T C 11: 55,289,252 E1421G probably damaging Het
Flt1 T A 5: 147,589,854 Y873F probably benign Het
Fos C T 12: 85,476,346 T344I probably damaging Het
Gm11639 G A 11: 105,100,021 D293N probably damaging Het
Gsdme A G 6: 50,229,284 probably null Het
Inpp5d A G 1: 87,712,114 T846A probably benign Het
Kdm4c T C 4: 74,373,684 M846T probably damaging Het
Lrp2 A G 2: 69,521,881 F604L possibly damaging Het
Mab21l3 C A 3: 101,823,455 R156L probably damaging Het
Mrps9 A G 1: 42,905,459 E379G probably damaging Het
Myo16 T C 8: 10,315,518 L119P probably damaging Het
Nprl2 T G 9: 107,545,528 N371K probably benign Het
Nr1d2 A T 14: 18,214,993 C340S probably benign Het
Nsg1 A T 5: 38,144,716 V117D probably damaging Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr859 T G 9: 19,808,621 V101G probably damaging Het
Paqr4 T C 17: 23,737,570 D273G possibly damaging Het
Plcb4 A G 2: 135,971,798 T686A probably benign Het
Ppp1r8 G A 4: 132,827,902 A335V probably damaging Het
Slc4a2 T A 5: 24,429,559 Y65* probably null Het
Slco3a1 A T 7: 74,504,183 Y214N probably damaging Het
Tmem232 T C 17: 65,256,574 E608G possibly damaging Het
Vmn1r169 A T 7: 23,577,594 Y137F probably damaging Het
Vmn2r97 T C 17: 18,947,659 I725T probably benign Het
Vmn2r98 T A 17: 19,065,745 probably benign Het
Other mutations in Neurod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Neurod2 APN 11 98327375 missense possibly damaging 0.94
IGL01752: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 On2013-04-17