Incidental Mutation 'R7738:Olig2'
ID 596393
Institutional Source Beutler Lab
Gene Symbol Olig2
Ensembl Gene ENSMUSG00000039830
Gene Name oligodendrocyte transcription factor 2
Synonyms bHLHe19, Olg-2, RK17, Bhlhb1
MMRRC Submission 045794-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7738 (G1)
Quality Score 149.008
Status Not validated
Chromosome 16
Chromosomal Location 91022345-91025565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91024048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 254 (I254T)
Ref Sequence ENSEMBL: ENSMUSP00000036797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035608]
AlphaFold Q9EQW6
Predicted Effect unknown
Transcript: ENSMUST00000035608
AA Change: I254T
SMART Domains Protein: ENSMUSP00000036797
Gene: ENSMUSG00000039830
AA Change: I254T

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
low complexity region 77 94 N/A INTRINSIC
HLH 114 168 5.28e-14 SMART
low complexity region 192 254 N/A INTRINSIC
low complexity region 259 284 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality, impaired development of motoneurons and oligodendrocytes, aphagia, hypotonia, and abnormal posture and breathing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 T A 1: 6,459,728 (GRCm39) D101E probably benign Het
Ank2 C T 3: 126,741,271 (GRCm39) A1538T Het
Arhgap21 A G 2: 20,854,290 (GRCm39) S1701P probably damaging Het
Arhgap21 A G 2: 20,855,169 (GRCm39) Y1408H probably damaging Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Cep57l1 T A 10: 41,616,842 (GRCm39) E148D probably damaging Het
Clstn1 A C 4: 149,719,811 (GRCm39) Q452P probably damaging Het
Csmd1 C A 8: 16,151,004 (GRCm39) R1437L probably damaging Het
Dcbld1 C T 10: 52,188,922 (GRCm39) T249I possibly damaging Het
Dsp A G 13: 38,369,151 (GRCm39) E749G probably damaging Het
Enox1 A C 14: 77,815,220 (GRCm39) N126T probably damaging Het
Fgfr1 T A 8: 26,048,201 (GRCm39) L99Q probably damaging Het
Fscn3 G A 6: 28,434,445 (GRCm39) R340Q probably benign Het
Glrb C T 3: 80,767,491 (GRCm39) C243Y probably damaging Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Has2 T C 15: 56,531,108 (GRCm39) K536E possibly damaging Het
Igtp A G 11: 58,097,906 (GRCm39) E359G probably benign Het
Kat14 A G 2: 144,236,162 (GRCm39) D509G probably damaging Het
Kbtbd2 C A 6: 56,756,722 (GRCm39) S338I possibly damaging Het
Mpdz A G 4: 81,253,986 (GRCm39) S1049P probably benign Het
Ncoa3 C T 2: 165,891,987 (GRCm39) A121V probably damaging Het
Nfatc4 A G 14: 56,069,414 (GRCm39) T647A possibly damaging Het
Nip7 T C 8: 107,783,997 (GRCm39) F79S probably damaging Het
Nrxn3 A C 12: 88,817,074 (GRCm39) E251D possibly damaging Het
Or55b4 C A 7: 102,133,818 (GRCm39) V170F probably damaging Het
Or5ac16 G A 16: 59,022,318 (GRCm39) A157V probably benign Het
Ostf1 A T 19: 18,562,065 (GRCm39) L177* probably null Het
Pabpc2 A T 18: 39,907,319 (GRCm39) I195F possibly damaging Het
Pacs1 A T 19: 5,202,378 (GRCm39) M404K probably benign Het
Pcdh1 A G 18: 38,330,529 (GRCm39) S964P probably benign Het
Pcdhb3 T A 18: 37,436,012 (GRCm39) N659K probably benign Het
Pla2g6 A T 15: 79,181,633 (GRCm39) Y537* probably null Het
Plekhn1 G A 4: 156,316,691 (GRCm39) T330M probably damaging Het
Proc G A 18: 32,260,532 (GRCm39) R198* probably null Het
Rfx8 G T 1: 39,722,091 (GRCm39) T298K probably damaging Het
S1pr4 A C 10: 81,334,341 (GRCm39) S378A probably benign Het
Saxo5 T C 8: 3,533,525 (GRCm39) F277S probably damaging Het
Slfn2 T A 11: 82,960,799 (GRCm39) F259L probably damaging Het
Snx14 T C 9: 88,289,527 (GRCm39) T242A probably benign Het
Sptbn2 A G 19: 4,774,153 (GRCm39) N68S probably damaging Het
Tmem44 A T 16: 30,362,228 (GRCm39) S201T probably benign Het
Ttc3 A T 16: 94,188,241 (GRCm39) I177L probably benign Het
Vmn1r177 T C 7: 23,565,559 (GRCm39) T106A probably damaging Het
Vmn1r28 T C 6: 58,243,039 (GRCm39) M294T probably benign Het
Zfp518b G A 5: 38,829,530 (GRCm39) T825I probably benign Het
Zfp729b A T 13: 67,740,194 (GRCm39) N690K probably benign Het
Other mutations in Olig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Olig2 APN 16 91,023,546 (GRCm39) missense probably benign 0.04
R2367:Olig2 UTSW 16 91,023,454 (GRCm39) missense possibly damaging 0.84
R4537:Olig2 UTSW 16 91,023,732 (GRCm39) missense probably damaging 0.99
R5597:Olig2 UTSW 16 91,023,768 (GRCm39) missense probably benign 0.11
R6612:Olig2 UTSW 16 91,023,769 (GRCm39) missense probably damaging 0.99
R6626:Olig2 UTSW 16 91,024,044 (GRCm39) missense unknown
R7081:Olig2 UTSW 16 91,023,307 (GRCm39) missense probably damaging 0.97
R7352:Olig2 UTSW 16 91,023,577 (GRCm39) missense probably benign 0.08
R7966:Olig2 UTSW 16 91,023,962 (GRCm39) small deletion probably benign
R8076:Olig2 UTSW 16 91,023,299 (GRCm39) missense probably damaging 0.96
R8976:Olig2 UTSW 16 91,023,363 (GRCm39) missense probably benign 0.00
R9360:Olig2 UTSW 16 91,023,774 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACTGGTGAGCGAGATCTAC -3'
(R):5'- AGCTCCCCTTCTTGCAACAG -3'

Sequencing Primer
(F):5'- AGATCTACGGGGGTCACCAC -3'
(R):5'- TTCTTGCAACAGAGCCCCG -3'
Posted On 2019-11-26