|Institutional Source||Beutler Lab|
|Gene Name||oligodendrocyte transcription factor 2|
|Synonyms||Bhlhb1, bHLHe19, RK17, Olg-2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4537 (G1)|
|Chromosomal Location||91225457-91228677 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 91226844 bp|
|Amino Acid Change||Isoleucine to Valine at position 149 (I149V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035608]|
|Predicted Effect||probably damaging
AA Change: I149V
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: I149V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1151|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
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||
|Other mutations in Olig2||
(F):5'- AAGTCATCTTCCTCCAGCAC -3'
(R):5'- ATGGATCCGACCGAGGACAG -3'
(F):5'- AGCACCTCCTCGTCCACG -3'
(R):5'- TAGAGAGGCGCTGGACACC -3'