Incidental Mutation 'R1451:Neurog2'
ID 262799
Institutional Source Beutler Lab
Gene Symbol Neurog2
Ensembl Gene ENSMUSG00000027967
Gene Name neurogenin 2
Synonyms Atoh4, bHLHa8, ngn2, Math4A
MMRRC Submission 039506-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1451 (G1)
Quality Score 85
Status Not validated
Chromosome 3
Chromosomal Location 127426784-127429280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127427490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000029587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029587]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029587
AA Change: D38G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029587
Gene: ENSMUSG00000027967
AA Change: D38G

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 38 44 N/A INTRINSIC
low complexity region 49 65 N/A INTRINSIC
HLH 118 170 1.38e-17 SMART
low complexity region 190 231 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.3%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice die after birth and have neuronal differentiation defects, affecting retinal development, spinal cord interneuron development and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,098,588 (GRCm39) E83G possibly damaging Het
Abca9 A G 11: 110,018,273 (GRCm39) S1116P probably damaging Het
Abcc12 T A 8: 87,284,322 (GRCm39) T296S probably damaging Het
Adarb2 A G 13: 8,389,657 (GRCm39) probably benign Het
Arhgef12 C T 9: 42,903,874 (GRCm39) probably benign Het
Asah1 A G 8: 41,807,049 (GRCm39) probably null Het
C1ra A T 6: 124,498,600 (GRCm39) Q431L probably benign Het
C1s2 A T 6: 124,602,453 (GRCm39) I580N probably benign Het
Cacna2d4 C T 6: 119,213,785 (GRCm39) T68I probably benign Het
Car8 A T 4: 8,189,327 (GRCm39) H162Q probably benign Het
Ccdc106 A G 7: 5,062,527 (GRCm39) R116G probably damaging Het
Ccdc136 T A 6: 29,419,376 (GRCm39) N965K probably benign Het
Cd200r3 A G 16: 44,771,910 (GRCm39) E58G possibly damaging Het
Cnksr3 T A 10: 7,076,830 (GRCm39) S121C probably null Het
Cog6 T C 3: 52,916,534 (GRCm39) M212V possibly damaging Het
Ebna1bp2 C A 4: 118,478,269 (GRCm39) probably null Het
Epha1 C A 6: 42,338,385 (GRCm39) M730I probably damaging Het
Fcgbpl1 T C 7: 27,836,582 (GRCm39) F167S probably damaging Het
Fscn2 A T 11: 120,252,848 (GRCm39) E105V probably damaging Het
Gars1 T C 6: 55,030,108 (GRCm39) probably benign Het
Itgb4 G T 11: 115,881,710 (GRCm39) G753V probably damaging Het
Kif23 C T 9: 61,832,084 (GRCm39) V634M probably damaging Het
Krt8 T C 15: 101,907,264 (GRCm39) Y273C possibly damaging Het
Lgmn A G 12: 102,372,151 (GRCm39) probably benign Het
Lrig3 T C 10: 125,845,926 (GRCm39) I785T possibly damaging Het
Lrriq1 A G 10: 103,038,376 (GRCm39) probably benign Het
Lta4h A G 10: 93,316,590 (GRCm39) D491G probably damaging Het
Megf10 A T 18: 57,385,931 (GRCm39) S315C probably damaging Het
Mphosph8 C T 14: 56,905,878 (GRCm39) R24C possibly damaging Het
Or1j11 G T 2: 36,311,877 (GRCm39) A156S probably benign Het
Or2w2 A T 13: 21,758,457 (GRCm39) Y56* probably null Het
Or2z2 C T 11: 58,346,358 (GRCm39) R139H probably benign Het
Or6b3 T A 1: 92,439,517 (GRCm39) I78F possibly damaging Het
Or8b50 A T 9: 38,518,234 (GRCm39) I158F probably benign Het
Or8g50 T A 9: 39,648,612 (GRCm39) V167D probably benign Het
Pcdhb17 A T 18: 37,619,989 (GRCm39) D593V probably damaging Het
Pde2a G T 7: 101,071,198 (GRCm39) E23* probably null Het
Prex2 G A 1: 11,226,483 (GRCm39) V749I probably benign Het
Ptchd4 A G 17: 42,813,809 (GRCm39) Y570C probably damaging Het
Robo3 C T 9: 37,329,007 (GRCm39) R1237K probably benign Het
Slc6a1 C A 6: 114,284,756 (GRCm39) Y87* probably null Het
Snx13 G A 12: 35,128,983 (GRCm39) A34T probably benign Het
Sppl3 T C 5: 115,226,424 (GRCm39) L193P probably damaging Het
Tia1 A T 6: 86,407,321 (GRCm39) Y277F probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc2l T C 8: 123,342,134 (GRCm39) F127L probably damaging Het
Ushbp1 G T 8: 71,838,663 (GRCm39) Q588K possibly damaging Het
Usp43 T A 11: 67,747,007 (GRCm39) H895L probably benign Het
Vmn1r179 T A 7: 23,628,275 (GRCm39) C155* probably null Het
Vmn2r8 T A 5: 108,945,933 (GRCm39) D558V probably damaging Het
Vps13a T C 19: 16,688,228 (GRCm39) T860A probably benign Het
Vps50 A G 6: 3,565,628 (GRCm39) N522S possibly damaging Het
Zfp180 T C 7: 23,804,643 (GRCm39) F354S probably benign Het
Zgpat A G 2: 181,021,984 (GRCm39) probably benign Het
Other mutations in Neurog2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02512:Neurog2 APN 3 127,427,504 (GRCm39) nonsense probably null
R2168:Neurog2 UTSW 3 127,427,754 (GRCm39) missense probably damaging 0.98
R5859:Neurog2 UTSW 3 127,427,664 (GRCm39) missense probably benign 0.05
R7572:Neurog2 UTSW 3 127,427,550 (GRCm39) missense probably damaging 0.96
R8777:Neurog2 UTSW 3 127,427,742 (GRCm39) missense probably damaging 0.99
R8777-TAIL:Neurog2 UTSW 3 127,427,742 (GRCm39) missense probably damaging 0.99
R9695:Neurog2 UTSW 3 127,427,694 (GRCm39) missense probably damaging 0.99
X0062:Neurog2 UTSW 3 127,428,068 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2015-02-04