Incidental Mutation 'R4537:Olig2'
ID 333394
Institutional Source Beutler Lab
Gene Symbol Olig2
Ensembl Gene ENSMUSG00000039830
Gene Name oligodendrocyte transcription factor 2
Synonyms bHLHe19, Olg-2, RK17, Bhlhb1
MMRRC Submission 041774-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4537 (G1)
Quality Score 164
Status Validated
Chromosome 16
Chromosomal Location 91022345-91025565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91023732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 149 (I149V)
Ref Sequence ENSEMBL: ENSMUSP00000036797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035608]
AlphaFold Q9EQW6
Predicted Effect probably damaging
Transcript: ENSMUST00000035608
AA Change: I149V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036797
Gene: ENSMUSG00000039830
AA Change: I149V

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
Meta Mutation Damage Score 0.1151 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b T A 13: 14,294,746 (GRCm39) Y9* probably null Het
Aspm T C 1: 139,402,041 (GRCm39) I1235T probably benign Het
Defb30 T C 14: 63,273,525 (GRCm39) I29M probably damaging Het
Dnajc13 CT C 9: 104,064,004 (GRCm39) probably benign Het
Dpy19l3 T C 7: 35,411,326 (GRCm39) T428A probably benign Het
Fam83b T C 9: 76,399,424 (GRCm39) T560A probably benign Het
Fnip2 A G 3: 79,373,021 (GRCm39) V1019A probably damaging Het
Fus A G 7: 127,575,087 (GRCm39) D268G probably damaging Het
Gm14412 T A 2: 177,006,352 (GRCm39) K514N probably benign Het
Gphn T C 12: 78,540,788 (GRCm39) L265P probably benign Het
Grm3 A G 5: 9,562,083 (GRCm39) M589T probably benign Het
Hoxa1 G T 6: 52,134,973 (GRCm39) Q77K probably benign Het
Ighv14-2 A G 12: 113,958,512 (GRCm39) C3R probably benign Het
Itgb2 G A 10: 77,397,050 (GRCm39) probably null Het
Mrpl24 A C 3: 87,829,719 (GRCm39) K102Q probably benign Het
Ogfod2 C T 5: 124,252,591 (GRCm39) probably benign Het
Or10g9 T A 9: 39,911,616 (GRCm39) K302N probably benign Het
Or56a3b T A 7: 104,776,227 (GRCm39) I84F probably damaging Het
Or7g19 T A 9: 18,856,526 (GRCm39) I194N possibly damaging Het
Oxr1 A G 15: 41,683,915 (GRCm39) Q515R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Slc25a12 T A 2: 71,105,450 (GRCm39) probably benign Het
Slc2a3 C A 6: 122,714,063 (GRCm39) G157V probably damaging Het
Slc5a4a C T 10: 76,013,929 (GRCm39) R379* probably null Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Srd5a3 G A 5: 76,297,798 (GRCm39) probably null Het
Tmtc1 C T 6: 148,164,280 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn2r87 T G 10: 130,308,054 (GRCm39) H728P probably benign Het
Vmn2r93 T A 17: 18,525,194 (GRCm39) M284K possibly damaging Het
Zfp101 T A 17: 33,601,466 (GRCm39) M59L possibly damaging Het
Zfp558 T C 9: 18,368,798 (GRCm39) E146G 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
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
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'- AAGTCATCTTCCTCCAGCAC -3'
(R):5'- ATGGATCCGACCGAGGACAG -3'

Sequencing Primer
(F):5'- AGCACCTCCTCGTCCACG -3'
(R):5'- TAGAGAGGCGCTGGACACC -3'
Posted On 2015-08-18