Incidental Mutation 'R8076:Olig2'
ID 629046
Institutional Source Beutler Lab
Gene Symbol Olig2
Ensembl Gene ENSMUSG00000039830
Gene Name oligodendrocyte transcription factor 2
Synonyms bHLHe19, Olg-2, RK17, Bhlhb1
MMRRC Submission 067510-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8076 (G1)
Quality Score 206.009
Status Validated
Chromosome 16
Chromosomal Location 91022345-91025565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91023299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 4 (D4E)
Ref Sequence ENSEMBL: ENSMUSP00000036797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035608]
AlphaFold Q9EQW6
Predicted Effect probably damaging
Transcript: ENSMUST00000035608
AA Change: D4E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036797
Gene: ENSMUSG00000039830
AA Change: D4E

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 25,452,938 (GRCm39) R790* probably null Het
Adamts13 C A 2: 26,880,624 (GRCm39) P736T probably benign Het
Aldh3b2 T A 19: 4,028,859 (GRCm39) F176L possibly damaging Het
Aldoart2 A G 12: 55,612,696 (GRCm39) E207G probably benign Het
Arid4b A T 13: 14,361,535 (GRCm39) E753D probably benign Het
Cd160 T A 3: 96,709,662 (GRCm39) T158S probably benign Het
Cd209g T A 8: 4,185,195 (GRCm39) M1K probably null Het
Chrm4 A G 2: 91,758,204 (GRCm39) Y204C probably damaging Het
Cyld T A 8: 89,456,346 (GRCm39) N465K probably benign Het
Dchs1 A T 7: 105,405,128 (GRCm39) H2471Q possibly damaging Het
Dchs1 A G 7: 105,411,189 (GRCm39) V1612A probably damaging Het
Ddx24 A G 12: 103,382,477 (GRCm39) V702A probably damaging Het
Dnah8 A G 17: 31,003,127 (GRCm39) T3609A possibly damaging Het
Dock5 A T 14: 68,040,426 (GRCm39) probably null Het
Dpy19l2 C T 9: 24,591,988 (GRCm39) R205H probably damaging Het
Eif3a A T 19: 60,762,363 (GRCm39) D473E probably damaging Het
Elapor1 G T 3: 108,399,398 (GRCm39) T64K probably benign Het
Elobl T C 11: 88,855,796 (GRCm39) E89G possibly damaging Het
Fam186a A T 15: 99,841,351 (GRCm39) I1631N possibly damaging Het
Fbn2 C T 18: 58,159,496 (GRCm39) W2411* probably null Het
Fbxl17 A G 17: 63,367,360 (GRCm39) I671T probably damaging Het
Glul C T 1: 153,782,868 (GRCm39) T193I possibly damaging Het
Grm7 A G 6: 111,543,000 (GRCm39) Y907C probably damaging Het
H4c16 A G 6: 136,781,124 (GRCm39) M85T probably benign Het
Hr A G 14: 70,795,381 (GRCm39) T309A probably benign Het
Ighg3 A G 12: 113,324,158 (GRCm39) S110P probably benign Het
Llgl2 A G 11: 115,737,755 (GRCm39) E180G possibly damaging Het
Mat2b A T 11: 40,576,092 (GRCm39) L112Q probably damaging Het
Mcoln2 T C 3: 145,896,169 (GRCm39) M497T probably damaging Het
Mmp24 C A 2: 155,649,481 (GRCm39) Y299* probably null Het
Mtor T C 4: 148,610,260 (GRCm39) probably null Het
Or10ag2 A T 2: 87,248,889 (GRCm39) I164L probably benign Het
Pard3 T C 8: 128,142,077 (GRCm39) S878P probably damaging Het
Pcgf5 C T 19: 36,417,483 (GRCm39) P137L probably damaging Het
Pck1 A G 2: 172,997,071 (GRCm39) N238D probably damaging Het
Pstpip1 T C 9: 56,035,064 (GRCm39) S346P probably benign Het
Qsox2 G A 2: 26,114,897 (GRCm39) H40Y possibly damaging Het
Rbpj T C 5: 53,799,479 (GRCm39) I129T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Saal1 G A 7: 46,360,031 (GRCm39) P9L probably benign Het
Sema3c A G 5: 17,932,362 (GRCm39) I622V probably benign Het
Sigirr C T 7: 140,671,785 (GRCm39) V333M probably benign Het
Sort1 T C 3: 108,246,183 (GRCm39) S387P probably damaging Het
Spata31h1 A C 10: 82,132,520 (GRCm39) Y163* probably null Het
Spta1 T A 1: 174,014,797 (GRCm39) S426T probably benign Het
Stag3 G A 5: 138,281,404 (GRCm39) S124N probably damaging Het
Stard10 A G 7: 100,993,176 (GRCm39) Y244C probably damaging Het
Tcea3 T A 4: 135,995,440 (GRCm39) I261N probably damaging Het
Tdrd1 A G 19: 56,832,267 (GRCm39) K395E probably damaging Het
Tenm2 T A 11: 35,918,048 (GRCm39) D1905V probably benign Het
Trim12c T C 7: 103,990,037 (GRCm39) Y480C unknown Het
Trip11 A G 12: 101,849,741 (GRCm39) V1441A probably damaging Het
Ttc21a G A 9: 119,795,392 (GRCm39) R1107Q probably benign Het
Wdr41 A G 13: 95,153,838 (GRCm39) I296V probably benign Het
Zdbf2 T A 1: 63,345,260 (GRCm39) V1213E possibly damaging Het
Zfp37 T C 4: 62,109,553 (GRCm39) N545D possibly damaging 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
R7738:Olig2 UTSW 16 91,024,048 (GRCm39) missense unknown
R7966:Olig2 UTSW 16 91,023,962 (GRCm39) small deletion probably benign
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'- AGATGCCAACCACCTTTGCG -3'
(R):5'- AAGATGACTTGAAGCCACCGC -3'

Sequencing Primer
(F):5'- AACCACCTTTGCGGGTTC -3'
(R):5'- AGTTTGTCCCCGGGATGC -3'
Posted On 2020-06-30