Incidental Mutation 'R7966:Olig2'
ID 650396
Institutional Source Beutler Lab
Gene Symbol Olig2
Ensembl Gene ENSMUSG00000039830
Gene Name oligodendrocyte transcription factor 2
Synonyms bHLHe19, Olg-2, RK17, Bhlhb1
MMRRC Submission 046009-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7966 (G1)
Quality Score 119.467
Status Not validated
Chromosome 16
Chromosomal Location 91022345-91025565 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC to AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC at 91023962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035608]
AlphaFold Q9EQW6
Predicted Effect probably benign
Transcript: ENSMUST00000035608
SMART Domains Protein: ENSMUSP00000036797
Gene: ENSMUSG00000039830

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (52/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,219,903 (GRCm39) I817L probably benign Het
Adcy8 A T 15: 64,573,939 (GRCm39) W1055R probably damaging Het
Anks4b A G 7: 119,781,923 (GRCm39) E318G probably benign Het
Arid3a A G 10: 79,767,889 (GRCm39) T229A probably benign Het
Cckar T C 5: 53,858,580 (GRCm39) K247E possibly damaging Het
Cfap52 A T 11: 67,844,571 (GRCm39) probably null Het
Ckap4 A G 10: 84,363,449 (GRCm39) V538A probably damaging Het
Cped1 T C 6: 22,059,953 (GRCm39) probably null Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cyp4v3 G T 8: 45,785,954 (GRCm39) A21E probably benign Het
Cytip T C 2: 58,037,944 (GRCm39) E140G probably damaging Het
D130043K22Rik A C 13: 25,077,406 (GRCm39) Q1013P probably damaging Het
Dpp6 A G 5: 27,928,370 (GRCm39) M763V probably benign Het
Eps15 T A 4: 109,178,340 (GRCm39) Y193N probably damaging Het
Ghrhr T C 6: 55,356,083 (GRCm39) W59R probably damaging Het
Hdac4 A G 1: 91,861,402 (GRCm39) V1056A possibly damaging Het
Ipcef1 T C 10: 6,850,668 (GRCm39) T312A probably damaging Het
Itpr3 T C 17: 27,331,002 (GRCm39) probably null Het
Kif6 A G 17: 49,993,453 (GRCm39) I182V probably damaging Het
Lcn3 A G 2: 25,656,389 (GRCm39) K90E probably damaging Het
Lig3 T C 11: 82,681,342 (GRCm39) S446P probably damaging Het
Ncln G A 10: 81,326,103 (GRCm39) Q283* probably null Het
Nlrp4c A G 7: 6,069,322 (GRCm39) T408A probably damaging Het
Oas1h T C 5: 121,009,962 (GRCm39) F346L probably damaging Het
Or2ad1 A T 13: 21,326,356 (GRCm39) Y290* probably null Het
Or52b4 T C 7: 102,184,623 (GRCm39) I223T probably damaging Het
Or52s1b A T 7: 102,822,062 (GRCm39) F261I probably damaging Het
Or8b55 A G 9: 38,727,536 (GRCm39) I246V probably benign Het
Pdcd1 A T 1: 93,969,186 (GRCm39) V44E probably damaging Het
Prdm13 A T 4: 21,679,932 (GRCm39) I186N unknown Het
Prpf4b A G 13: 35,085,428 (GRCm39) D958G probably damaging Het
Prss59 A T 6: 40,903,022 (GRCm39) Y117N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Robo1 T A 16: 72,780,760 (GRCm39) I830N possibly damaging Het
Scaper A G 9: 55,669,611 (GRCm39) V355A probably damaging Het
Scn3b C T 9: 40,193,846 (GRCm39) A191V probably benign Het
Slc13a3 G C 2: 165,272,155 (GRCm39) S296C probably benign Het
Slc6a16 T A 7: 44,917,477 (GRCm39) I445N possibly damaging Het
Snrnp35 A G 5: 124,628,565 (GRCm39) Y126C possibly damaging Het
Spock2 A G 10: 59,957,554 (GRCm39) H98R possibly damaging Het
Sptssb A T 3: 69,728,286 (GRCm39) Y50* probably null Het
Syne1 A G 10: 5,066,965 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tecta A G 9: 42,306,258 (GRCm39) F57L probably damaging Het
Tgs1 C A 4: 3,586,215 (GRCm39) P364H probably benign Het
Tmem242 A G 17: 5,461,711 (GRCm39) I119T probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn2r3 T A 3: 64,186,235 (GRCm39) N150I probably damaging Het
Vmn2r69 A G 7: 85,060,762 (GRCm39) I274T possibly damaging Het
Vwf T A 6: 125,616,304 (GRCm39) L1206* probably null Het
Zfp157 T A 5: 138,445,833 (GRCm39) W63R probably benign Het
Zfp455 T C 13: 67,347,302 (GRCm39) Y10H probably benign Het
Zfp654 T C 16: 64,605,239 (GRCm39) T447A probably damaging Het
Zhx2 T C 15: 57,685,063 (GRCm39) I144T probably 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
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'- GGCGCGAAACTACATCCTCATG -3'
(R):5'- TCCCCTTCTTGCAACAGAGC -3'

Sequencing Primer
(F):5'- ATGCTCACCAACTCGCTGGAG -3'
(R):5'- ATAGCCGACACGTGGTGGTG -3'
Posted On 2020-09-15