Incidental Mutation 'R2168:Neurog2'
ID 235597
Institutional Source Beutler Lab
Gene Symbol Neurog2
Ensembl Gene ENSMUSG00000027967
Gene Name neurogenin 2
Synonyms Atoh4, bHLHa8, ngn2, Math4A
MMRRC Submission 040171-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2168 (G1)
Quality Score 146
Status Validated
Chromosome 3
Chromosomal Location 127426784-127429280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127427754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 126 (H126L)
Ref Sequence ENSEMBL: ENSMUSP00000029587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029587]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029587
AA Change: H126L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029587
Gene: ENSMUSG00000027967
AA Change: H126L

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
Meta Mutation Damage Score 0.7243 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,701 (GRCm39) I188N probably damaging Het
Akr1c14 T C 13: 4,131,106 (GRCm39) V266A probably damaging Het
Als2cl C A 9: 110,717,810 (GRCm39) P301H probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Catspere2 C T 1: 177,843,477 (GRCm39) probably benign Het
Cpsf1 A T 15: 76,487,937 (GRCm39) N53K possibly damaging Het
Ctsll3 C T 13: 60,948,749 (GRCm39) G69R possibly damaging Het
F2 C T 2: 91,458,693 (GRCm39) R539Q probably damaging Het
Fam78b G A 1: 166,906,219 (GRCm39) G126D probably damaging Het
Fancd2 A G 6: 113,568,120 (GRCm39) I1332V possibly damaging Het
Flg2 C T 3: 93,109,244 (GRCm39) S424L probably damaging Het
Fpr1 T C 17: 18,097,471 (GRCm39) T173A possibly damaging Het
Gas2l3 A G 10: 89,249,960 (GRCm39) V386A probably benign Het
Gdap2 A C 3: 100,095,199 (GRCm39) E269A probably benign Het
Igf2bp2 T A 16: 21,898,358 (GRCm39) probably null Het
Ipo11 T C 13: 107,016,118 (GRCm39) probably null Het
Itpr2 G T 6: 146,013,176 (GRCm39) P2667Q probably benign Het
Itsn2 G T 12: 4,683,044 (GRCm39) probably benign Het
Jakmip2 A G 18: 43,698,995 (GRCm39) L488P probably damaging Het
Lrp1b A T 2: 41,265,858 (GRCm39) C248S probably damaging Het
Lrrc17 A T 5: 21,780,046 (GRCm39) D340V probably damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mrc1 T C 2: 14,249,015 (GRCm39) S184P possibly damaging Het
Msh4 A T 3: 153,573,472 (GRCm39) Y533* probably null Het
Mug1 A G 6: 121,847,458 (GRCm39) N612S probably benign Het
Nectin2 G T 7: 19,464,539 (GRCm39) S288R probably damaging Het
Nol10 A T 12: 17,423,585 (GRCm39) E310V probably damaging Het
Or1f12 T G 13: 21,721,422 (GRCm39) K251T probably damaging Het
Or4c29 A G 2: 88,740,522 (GRCm39) S72P probably damaging Het
Or51h7 A T 7: 102,591,678 (GRCm39) F35L probably benign Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Pcdhb7 T A 18: 37,476,335 (GRCm39) F490L probably benign Het
Pcsk1 T A 13: 75,260,653 (GRCm39) probably benign Het
Plekhn1 T A 4: 156,306,339 (GRCm39) D577V probably damaging Het
Prrc2c C A 1: 162,537,903 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Pzp G A 6: 128,465,010 (GRCm39) T1288M probably damaging Het
Radil A C 5: 142,492,718 (GRCm39) H63Q probably benign Het
Rai1 T C 11: 60,078,422 (GRCm39) S829P probably benign Het
Rd3 A G 1: 191,715,488 (GRCm39) I88V probably damaging Het
Rfesd T C 13: 76,156,244 (GRCm39) D54G probably damaging Het
Rnf213 A C 11: 119,305,896 (GRCm39) K568T probably damaging Het
Scaper T A 9: 55,650,923 (GRCm39) K913N probably damaging Het
Serpina3c T C 12: 104,115,628 (GRCm39) probably null Het
Serpinb6d A T 13: 33,850,357 (GRCm39) K61N probably benign Het
Skint4 A T 4: 111,944,183 (GRCm39) probably null Het
Sod1 T C 16: 90,017,801 (GRCm39) I19T possibly damaging Het
Stfa3 C A 16: 36,271,042 (GRCm39) G81* probably null Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Uggt2 T A 14: 119,256,917 (GRCm39) N1106Y probably damaging Het
Vmn1r217 G A 13: 23,298,714 (GRCm39) Q63* probably null Het
Vmn2r129 A T 4: 156,690,673 (GRCm39) noncoding transcript Het
Vps13b C A 15: 35,792,334 (GRCm39) P2201T probably damaging Het
Vps13b C A 15: 35,792,335 (GRCm39) P2201Q probably damaging Het
Vps13d G T 4: 144,813,893 (GRCm39) probably benign Het
Zer1 A G 2: 29,994,887 (GRCm39) C503R probably damaging Het
Zfp369 T C 13: 65,444,762 (GRCm39) V635A probably benign Het
Zfp608 A T 18: 55,031,125 (GRCm39) Y938* probably null Het
Other mutations in Neurog2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02512:Neurog2 APN 3 127,427,504 (GRCm39) nonsense probably null
R1451:Neurog2 UTSW 3 127,427,490 (GRCm39) missense possibly damaging 0.52
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 PCR Primer
(F):5'- AGAGGAGGTACTGATGCTGC -3'
(R):5'- TAAAGTGCAGCTGTATGGGGAC -3'

Sequencing Primer
(F):5'- ACTGATGCTGCTGGGCTC -3'
(R):5'- TTGGTGCAGCTCCAGGAG -3'
Posted On 2014-10-01