Incidental Mutation 'R6612:Olig2'
ID 523731
Institutional Source Beutler Lab
Gene Symbol Olig2
Ensembl Gene ENSMUSG00000039830
Gene Name oligodendrocyte transcription factor 2
Synonyms bHLHe19, Olg-2, RK17, Bhlhb1
MMRRC Submission 044735-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6612 (G1)
Quality Score 153.008
Status Validated
Chromosome 16
Chromosomal Location 91022345-91025565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91023769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 161 (M161K)
Ref Sequence ENSEMBL: ENSMUSP00000036797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035608]
AlphaFold Q9EQW6
Predicted Effect probably damaging
Transcript: ENSMUST00000035608
AA Change: M161K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036797
Gene: ENSMUSG00000039830
AA Change: M161K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231709
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.4%
Validation Efficiency 95% (59/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A C 1: 159,902,804 (GRCm39) N25H probably damaging Het
Akr1c14 A T 13: 4,115,331 (GRCm39) S87C probably benign Het
Arhgef37 T C 18: 61,627,952 (GRCm39) T664A probably benign Het
Arsi A G 18: 61,045,528 (GRCm39) T73A probably benign Het
Cacnb2 A T 2: 14,979,960 (GRCm39) T274S probably benign Het
Cd244a A G 1: 171,401,672 (GRCm39) T133A probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Ciz1 T A 2: 32,267,323 (GRCm39) S720T possibly damaging Het
Cxcr6 T A 9: 123,639,785 (GRCm39) I262N probably damaging Het
Cyp2a4 T A 7: 26,008,072 (GRCm39) F160I probably benign Het
Esrra T C 19: 6,889,220 (GRCm39) T390A probably benign Het
Gm17079 T A 14: 51,931,833 (GRCm39) Q91L possibly damaging Het
Gm17079 C A 14: 51,931,832 (GRCm39) Q91H probably damaging Het
Got1 A G 19: 43,493,242 (GRCm39) S256P probably damaging Het
Gria4 C T 9: 4,472,206 (GRCm39) V428I possibly damaging Het
Grin2b A G 6: 135,717,996 (GRCm39) Y699H probably damaging Het
Hipk2 T C 6: 38,795,808 (GRCm39) I154V probably benign Het
Hkdc1 T C 10: 62,231,220 (GRCm39) E628G possibly damaging Het
Hmcn1 C G 1: 150,470,869 (GRCm39) probably null Het
Hspbap1 T G 16: 35,621,961 (GRCm39) L102W probably damaging Het
Iqcb1 G A 16: 36,692,023 (GRCm39) probably benign Het
Itga7 A G 10: 128,784,862 (GRCm39) Y763C possibly damaging Het
Itgb4 A T 11: 115,874,897 (GRCm39) D418V probably benign Het
Jakmip2 T C 18: 43,690,432 (GRCm39) D631G probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Kcnu1 A G 8: 26,408,344 (GRCm39) I52V probably benign Het
Kdm5a T C 6: 120,407,189 (GRCm39) I1468T probably damaging Het
Kmt2d A G 15: 98,743,739 (GRCm39) probably benign Het
Mab21l3 A G 3: 101,725,961 (GRCm39) V345A possibly damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mccc1 T C 3: 36,048,079 (GRCm39) S115G probably benign Het
Mchr1 G A 15: 81,122,071 (GRCm39) V274M probably damaging Het
Mrgpra3 T A 7: 47,239,783 (GRCm39) I48F probably benign Het
Myo9a T A 9: 59,734,479 (GRCm39) F687Y probably damaging Het
Nfrkb T A 9: 31,308,302 (GRCm39) L216* probably null Het
Nrxn3 A T 12: 89,780,102 (GRCm39) probably benign Het
Or11h7 A T 14: 50,891,090 (GRCm39) Y132F probably damaging Het
Pcdh15 T A 10: 74,021,210 (GRCm39) N141K probably damaging Het
Pcdha4 T C 18: 37,088,031 (GRCm39) V738A probably benign Het
Pdgfra T C 5: 75,328,503 (GRCm39) S212P probably benign Het
Plk3 G A 4: 116,989,934 (GRCm39) Q194* probably null Het
Ppp1r36 T C 12: 76,484,378 (GRCm39) I216T possibly damaging Het
Ptprz1 T A 6: 23,052,081 (GRCm39) N2303K probably damaging Het
Rab25 G A 3: 88,450,710 (GRCm39) T117M probably damaging Het
Relch T A 1: 105,619,732 (GRCm39) D320E possibly damaging Het
Slc25a47 T C 12: 108,821,904 (GRCm39) V231A probably benign Het
Slx4 G A 16: 3,803,140 (GRCm39) H1225Y probably damaging Het
Snx13 C T 12: 35,156,758 (GRCm39) A470V probably benign Het
Spa17 A G 9: 37,517,090 (GRCm39) F101S probably benign Het
Ssh1 C T 5: 114,096,791 (GRCm39) A217T probably benign Het
Stimate T A 14: 30,593,521 (GRCm39) probably null Het
Synm G C 7: 67,383,264 (GRCm39) T1466S probably damaging Het
Tbc1d19 A G 5: 53,967,187 (GRCm39) E29G possibly damaging Het
Teddm2 T A 1: 153,726,191 (GRCm39) T175S probably benign Het
Tet2 T A 3: 133,193,096 (GRCm39) H446L possibly damaging Het
Tpm3-rs7 G T 14: 113,552,268 (GRCm39) R54L probably benign Het
Ttc5 T A 14: 51,022,926 (GRCm39) probably null Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Ush2a T C 1: 188,643,594 (GRCm39) S4319P possibly damaging Het
Zbtb10 C A 3: 9,317,125 (GRCm39) H312Q possibly damaging Het
Zfp462 A T 4: 55,012,324 (GRCm39) probably null 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
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
R7738:Olig2 UTSW 16 91,024,048 (GRCm39) missense unknown
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'- CAAGAAGCAGATGACTGAGCCC -3'
(R):5'- CTCCCCTTCTTGCAACAGAG -3'

Sequencing Primer
(F):5'- CTCAACATCGCCATGGA -3'
(R):5'- ATAGCCGACACGTGGTGGTG -3'
Posted On 2018-06-22