Incidental Mutation 'R1290:Neurod2'
ID 150761
Institutional Source Beutler Lab
Gene Symbol Neurod2
Ensembl Gene ENSMUSG00000038255
Gene Name neurogenic differentiation 2
Synonyms Ndrf, bHLHa1
MMRRC Submission 039356-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.792) question?
Stock # R1290 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98216241-98220471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98218114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 350 (V350E)
Ref Sequence ENSEMBL: ENSMUSP00000041373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041685]
AlphaFold Q62414
Predicted Effect possibly damaging
Transcript: ENSMUST00000041685
AA Change: V350E

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: V350E

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfrp1 C T 2: 181,006,397 (GRCm39) probably null Het
Borcs5 A G 6: 134,621,331 (GRCm39) D34G possibly damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Efl1 T C 7: 82,320,936 (GRCm39) V123A probably damaging Het
Exd2 T A 12: 80,531,100 (GRCm39) L99Q probably benign Het
Fnip2 T C 3: 79,373,000 (GRCm39) D1026G probably damaging Het
Gprin3 A G 6: 59,331,449 (GRCm39) F286S possibly damaging Het
Gramd1b A G 9: 40,228,117 (GRCm39) probably null Het
Ints1 A T 5: 139,757,165 (GRCm39) L417* probably null Het
Iqgap2 A T 13: 95,805,021 (GRCm39) V845E probably damaging Het
Kcnh3 G A 15: 99,125,001 (GRCm39) probably null Het
Mbd1 T C 18: 74,402,557 (GRCm39) S20P possibly damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Mmp16 A T 4: 18,051,725 (GRCm39) N238I probably damaging Het
P3h2 C T 16: 25,805,953 (GRCm39) E297K probably damaging Het
Pcdhb1 A G 18: 37,398,283 (GRCm39) H78R possibly damaging Het
Slc22a14 A C 9: 119,007,518 (GRCm39) L297R probably damaging Het
Slc22a8 G A 19: 8,587,275 (GRCm39) G445D probably damaging Het
Spink5 A G 18: 44,140,778 (GRCm39) D659G probably damaging Het
St6gal1 A G 16: 23,140,411 (GRCm39) Q194R probably benign Het
Tas2r104 A T 6: 131,661,808 (GRCm39) C300* probably null Het
Ttc6 G A 12: 57,707,199 (GRCm39) S702N probably benign Het
Wnk4 C G 11: 101,167,166 (GRCm39) probably benign Het
Zfyve28 A T 5: 34,356,145 (GRCm39) D785E probably benign Het
Other mutations in Neurod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Neurod2 APN 11 98,218,595 (GRCm39) missense probably damaging 1.00
IGL01751:Neurod2 APN 11 98,218,201 (GRCm39) missense possibly damaging 0.94
IGL01752:Neurod2 APN 11 98,218,201 (GRCm39) missense possibly damaging 0.94
IGL02661:Neurod2 APN 11 98,218,405 (GRCm39) missense possibly damaging 0.65
hesitate UTSW 11 98,218,582 (GRCm39) missense probably damaging 1.00
R5181_Neurod2_559 UTSW 11 98,218,204 (GRCm39) missense probably benign 0.43
selection UTSW 11 98,218,147 (GRCm39) missense probably benign 0.01
PIT4362001:Neurod2 UTSW 11 98,218,708 (GRCm39) missense probably damaging 1.00
R0904:Neurod2 UTSW 11 98,218,147 (GRCm39) missense probably benign 0.01
R0989:Neurod2 UTSW 11 98,218,805 (GRCm39) missense probably damaging 1.00
R1564:Neurod2 UTSW 11 98,218,250 (GRCm39) missense probably damaging 0.96
R1712:Neurod2 UTSW 11 98,218,029 (GRCm39) missense probably damaging 1.00
R1901:Neurod2 UTSW 11 98,218,558 (GRCm39) missense probably damaging 1.00
R2129:Neurod2 UTSW 11 98,218,414 (GRCm39) missense possibly damaging 0.73
R2267:Neurod2 UTSW 11 98,218,582 (GRCm39) missense probably damaging 1.00
R3754:Neurod2 UTSW 11 98,218,526 (GRCm39) missense probably damaging 1.00
R4421:Neurod2 UTSW 11 98,219,026 (GRCm39) nonsense probably null
R5067:Neurod2 UTSW 11 98,218,063 (GRCm39) missense possibly damaging 0.71
R5181:Neurod2 UTSW 11 98,218,204 (GRCm39) missense probably benign 0.43
R7922:Neurod2 UTSW 11 98,218,454 (GRCm39) missense probably benign 0.00
R7976:Neurod2 UTSW 11 98,218,023 (GRCm39) missense probably damaging 0.97
R8692:Neurod2 UTSW 11 98,218,960 (GRCm39) missense probably benign 0.02
R8842:Neurod2 UTSW 11 98,218,507 (GRCm39) missense probably damaging 1.00
R9716:Neurod2 UTSW 11 98,218,444 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGATCCCCAGAGATGCTCTCCAC -3'
(R):5'- TCCGAGTACGAGGGTCCACTCAGTC -3'

Sequencing Primer
(F):5'- TGCTCTCCACGAGAGAAGG -3'
(R):5'- GTCCACTCAGTCCCCCG -3'
Posted On 2014-01-29