Incidental Mutation 'R7922:Neurod2'
ID 648471
Institutional Source Beutler Lab
Gene Symbol Neurod2
Ensembl Gene ENSMUSG00000038255
Gene Name neurogenic differentiation 2
Synonyms Ndrf, bHLHa1
MMRRC Submission 045969-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.792) question?
Stock # R7922 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98216241-98220471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98218454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 237 (M237V)
Ref Sequence ENSEMBL: ENSMUSP00000041373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041685]
AlphaFold Q62414
Predicted Effect probably benign
Transcript: ENSMUST00000041685
AA Change: M237V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041373
Gene: ENSMUSG00000038255
AA Change: M237V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,211,180 (GRCm39) T638M possibly damaging Het
4930546C10Rik A G 18: 69,083,067 (GRCm39) probably null Het
Abi3 A T 11: 95,723,619 (GRCm39) Y342N unknown Het
Adk G A 14: 21,368,111 (GRCm39) V195I probably benign Het
Ago2 C T 15: 72,998,375 (GRCm39) V268M possibly damaging Het
Apaf1 T C 10: 90,835,615 (GRCm39) I1077V probably benign Het
Arap1 A T 7: 101,053,621 (GRCm39) K1317* probably null Het
Auts2 T A 5: 131,469,211 (GRCm39) D493V Het
Baz1b A T 5: 135,260,533 (GRCm39) Q1110L probably damaging Het
Brsk2 T A 7: 141,546,957 (GRCm39) S467T possibly damaging Het
Btbd9 A T 17: 30,493,858 (GRCm39) M511K probably benign Het
Cdh23 T A 10: 60,218,485 (GRCm39) Y1385F probably benign Het
Cfap100 A C 6: 90,380,962 (GRCm39) L427V unknown Het
Cnga1 A G 5: 72,762,225 (GRCm39) F430L possibly damaging Het
Csnk2a1-ps3 A T 1: 156,352,562 (GRCm39) L254F probably damaging Het
Dnhd1 A T 7: 105,317,721 (GRCm39) D472V probably damaging Het
Dock2 T A 11: 34,598,154 (GRCm39) E339V probably benign Het
Eif3a A T 19: 60,764,280 (GRCm39) V379E probably damaging Het
Erich4 T A 7: 25,315,168 (GRCm39) N36Y probably damaging Het
Frem2 T C 3: 53,560,725 (GRCm39) T1261A probably damaging Het
Fzd6 A T 15: 38,894,503 (GRCm39) D223V probably damaging Het
Gabra2 A T 5: 71,165,315 (GRCm39) Y218* probably null Het
Gcn1 G T 5: 115,752,527 (GRCm39) M2177I probably benign Het
Ghr G A 15: 3,370,556 (GRCm39) T103I possibly damaging Het
Gipc1 T C 8: 84,387,857 (GRCm39) V79A probably benign Het
Gm13272 T A 4: 88,698,577 (GRCm39) V164D probably damaging Het
Gramd4 C A 15: 86,016,159 (GRCm39) H503Q probably benign Het
Gstm4 A T 3: 107,951,987 (GRCm39) M1K probably null Het
Heatr5b T A 17: 79,067,988 (GRCm39) Q1800L probably benign Het
Hectd1 T A 12: 51,836,978 (GRCm39) K826* probably null Het
Hoxa9 T C 6: 52,201,289 (GRCm39) I251V possibly damaging Het
Il2ra A T 2: 11,679,177 (GRCm39) I46F possibly damaging Het
Ints2 T A 11: 86,135,453 (GRCm39) R320S probably benign Het
Iscu A T 5: 113,912,343 (GRCm39) N46I probably damaging Het
Iscu G A 5: 113,912,410 (GRCm39) R60Q unknown Het
Kcnk3 A T 5: 30,745,875 (GRCm39) H72L probably damaging Het
Kmt2a T G 9: 44,754,157 (GRCm39) S1228R unknown Het
Mbl2 T A 19: 30,216,638 (GRCm39) L150Q probably damaging Het
Med13 A T 11: 86,161,831 (GRCm39) F2166Y probably damaging Het
Mterf4 A C 1: 93,229,275 (GRCm39) L246* probably null Het
Muc16 T C 9: 18,496,121 (GRCm39) Q6690R probably benign Het
Myh10 T A 11: 68,699,719 (GRCm39) L1722Q possibly damaging Het
Olfml1 A G 7: 107,170,356 (GRCm39) Y81C probably damaging Het
Or4q3 A G 14: 50,583,872 (GRCm39) V9A probably benign Het
Pcdhga7 A T 18: 37,849,226 (GRCm39) N411I probably benign Het
Pcdhgb8 T C 18: 37,897,002 (GRCm39) F691L probably benign Het
Pik3c2a A G 7: 115,990,517 (GRCm39) V481A probably damaging Het
Pik3r6 A T 11: 68,424,701 (GRCm39) R435S probably benign Het
Pkd1l1 G A 11: 8,799,013 (GRCm39) H2250Y Het
Pkd1l1 A G 11: 8,859,857 (GRCm39) S1034P Het
Plcd1 C A 9: 118,903,720 (GRCm39) R400L possibly damaging Het
Ppp2r1a A G 17: 21,174,879 (GRCm39) T58A probably benign Het
Ppp5c T C 7: 16,761,725 (GRCm39) E5G possibly damaging Het
Pradc1 A C 6: 85,424,950 (GRCm39) F82L probably benign Het
Prkag3 A T 1: 74,780,416 (GRCm39) S416R probably benign Het
Rab3gap2 T C 1: 184,982,117 (GRCm39) C390R probably benign Het
Rhot1 A G 11: 80,156,629 (GRCm39) T655A probably benign Het
Rorc A G 3: 94,298,495 (GRCm39) I348V probably damaging Het
Ryr1 A T 7: 28,796,649 (GRCm39) V1051E probably benign Het
Sema5b GCAC GC 16: 35,478,626 (GRCm39) probably null Het
Serpinb3c G A 1: 107,199,744 (GRCm39) T259I probably damaging Het
Sh3gl1 A T 17: 56,326,438 (GRCm39) M70K probably damaging Het
Sinhcaf T A 6: 148,827,644 (GRCm39) T125S probably benign Het
Slc7a4 C T 16: 17,391,230 (GRCm39) V607I probably benign Het
Spop A T 11: 95,362,154 (GRCm39) N62Y probably damaging Het
Spout1 A G 2: 30,066,823 (GRCm39) F130S probably benign Het
Tab1 A G 15: 80,043,066 (GRCm39) H420R possibly damaging Het
Tecpr2 CA C 12: 110,899,076 (GRCm39) probably null Het
Tnxb G C 17: 34,933,577 (GRCm39) K2332N probably damaging Het
Togaram1 T C 12: 65,014,512 (GRCm39) Y588H probably damaging Het
Trim71 G A 9: 114,342,153 (GRCm39) R710C probably damaging Het
Tsen54 C T 11: 115,711,608 (GRCm39) Q342* probably null Het
Ube2r2 T A 4: 41,190,812 (GRCm39) N235K unknown Het
Utrn C A 10: 12,543,271 (GRCm39) K1792N possibly damaging Het
Vmn1r122 A G 7: 20,867,587 (GRCm39) I156T possibly damaging Het
Vmn1r94 T C 7: 19,901,636 (GRCm39) T223A possibly damaging Het
Vmn2r120 G A 17: 57,831,683 (GRCm39) R369W probably damaging Het
Vwa7 G T 17: 35,243,409 (GRCm39) A717S possibly damaging Het
Zc3h4 T A 7: 16,159,647 (GRCm39) C398S unknown Het
Zc3hc1 T A 6: 30,390,874 (GRCm39) E43V possibly damaging Het
Zfp101 A T 17: 33,600,511 (GRCm39) V415D possibly damaging Het
Zfp553 A G 7: 126,835,768 (GRCm39) H441R probably damaging 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
R1290:Neurod2 UTSW 11 98,218,114 (GRCm39) missense possibly damaging 0.69
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
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'- TACTCGGAGCTGTTGTAGTCCG -3'
(R):5'- TGTCCAAGATCGAGACCCTG -3'

Sequencing Primer
(F):5'- TTGTAGTCCGGGCTAGCGC -3'
(R):5'- AAGAACTACATCTGGGCTCTCTCG -3'
Posted On 2020-09-15