Incidental Mutation 'IGL02512:Neurog2'
ID 296617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neurog2
Ensembl Gene ENSMUSG00000027967
Gene Name neurogenin 2
Synonyms Atoh4, bHLHa8, ngn2, Math4A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02512
Quality Score
Status
Chromosome 3
Chromosomal Location 127426784-127429280 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 127427504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 43 (E43*)
Ref Sequence ENSEMBL: ENSMUSP00000029587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029587]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000029587
AA Change: E43*
SMART Domains Protein: ENSMUSP00000029587
Gene: ENSMUSG00000027967
AA Change: E43*

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
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,111,752 (GRCm39) H199N probably benign Het
Ankrd13a T A 5: 114,924,827 (GRCm39) M104K probably benign Het
Ankrd37 A G 8: 46,452,325 (GRCm39) L48P probably damaging Het
Ankzf1 T A 1: 75,169,222 (GRCm39) L43M probably damaging Het
Ano10 A C 9: 122,101,540 (GRCm39) V77G possibly damaging Het
Arg2 G A 12: 79,194,517 (GRCm39) V114I probably benign Het
Asah1 A C 8: 41,813,344 (GRCm39) probably benign Het
Clpx A C 9: 65,217,533 (GRCm39) I34L probably benign Het
Cnga2 G A X: 71,052,531 (GRCm39) V469I probably damaging Het
Dock9 A T 14: 121,856,950 (GRCm39) probably benign Het
Eaf1 A G 14: 31,219,743 (GRCm39) T61A possibly damaging Het
Exoc3l T A 8: 106,017,115 (GRCm39) D624V probably damaging Het
Fancd2 A G 6: 113,547,904 (GRCm39) D927G probably damaging Het
Fbn1 A T 2: 125,180,380 (GRCm39) Y1801N probably damaging Het
Garnl3 A G 2: 32,921,150 (GRCm39) Y292H probably damaging Het
Gpr174 A T X: 106,336,577 (GRCm39) K130* probably null Het
Greb1 C T 12: 16,742,713 (GRCm39) V1379I possibly damaging Het
Grik2 A T 10: 49,232,008 (GRCm39) D507E probably benign Het
Gsn A T 2: 35,173,962 (GRCm39) K24* probably null Het
Ift80 A G 3: 68,835,058 (GRCm39) probably null Het
Inpp5j T A 11: 3,449,661 (GRCm39) Y707F probably damaging Het
Ints13 A T 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kcnh1 T C 1: 192,187,689 (GRCm39) F717L possibly damaging Het
Klhdc8a T C 1: 132,230,895 (GRCm39) probably null Het
Klkb1 G A 8: 45,729,277 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Msh6 T C 17: 88,292,160 (GRCm39) V305A probably benign Het
Myo6 T A 9: 80,199,801 (GRCm39) probably null Het
Nampt T A 12: 32,880,268 (GRCm39) Y54N possibly damaging Het
Obscn C T 11: 58,919,343 (GRCm39) R6887H probably damaging Het
Or10ag58 A G 2: 87,265,402 (GRCm39) I190M possibly damaging Het
Or5ac25 T C 16: 59,182,171 (GRCm39) N137D possibly damaging Het
Or6c203 A G 10: 129,010,119 (GRCm39) I257T possibly damaging Het
Pdss1 A G 2: 22,802,658 (GRCm39) I166V probably damaging Het
Phaf1 G A 8: 105,961,110 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Reln A G 5: 22,245,425 (GRCm39) Y728H probably benign Het
Sec31a T C 5: 100,555,052 (GRCm39) D56G probably damaging Het
Shroom1 T A 11: 53,357,386 (GRCm39) V683E probably damaging Het
Slc5a11 A G 7: 122,864,478 (GRCm39) D358G probably damaging Het
Slfn3 T A 11: 83,103,851 (GRCm39) S241T possibly damaging Het
Slitrk3 G A 3: 72,957,735 (GRCm39) P346S probably benign Het
Specc1 T A 11: 62,009,215 (GRCm39) S324T probably damaging Het
Sptlc3 T C 2: 139,389,123 (GRCm39) Y168H probably damaging Het
St3gal6 C T 16: 58,293,822 (GRCm39) E236K probably benign Het
Tet2 A T 3: 133,175,069 (GRCm39) M1426K probably benign Het
Tinag A T 9: 76,939,069 (GRCm39) probably benign Het
Tjp1 A G 7: 64,993,415 (GRCm39) S53P probably damaging Het
Uimc1 T C 13: 55,188,431 (GRCm39) T543A possibly damaging Het
Wdfy4 A G 14: 32,764,448 (GRCm39) W2147R probably benign Het
Zmym1 C T 4: 126,942,465 (GRCm39) C641Y probably damaging Het
Other mutations in Neurog2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1451:Neurog2 UTSW 3 127,427,490 (GRCm39) missense possibly damaging 0.52
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
Posted On 2015-04-16