Incidental Mutation 'R6376:Ets2'
ID 515014
Institutional Source Beutler Lab
Gene Symbol Ets2
Ensembl Gene ENSMUSG00000022895
Gene Name E26 avian leukemia oncogene 2, 3' domain
Synonyms Ets-2
MMRRC Submission 044526-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6376 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 95503274-95522093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95520037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 421 (R421H)
Ref Sequence ENSEMBL: ENSMUSP00000023612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023612]
AlphaFold P15037
Predicted Effect probably damaging
Transcript: ENSMUST00000023612
AA Change: R421H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: R421H

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
ETS 361 446 8.49e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140544
Meta Mutation Damage Score 0.9700 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,339,456 (GRCm39) E106D probably damaging Het
A830018L16Rik A T 1: 11,868,718 (GRCm39) N333Y probably damaging Het
Abca4 T A 3: 121,917,309 (GRCm39) M1007K possibly damaging Het
Accsl T A 2: 93,687,343 (GRCm39) I495F probably damaging Het
Acsl3 T C 1: 78,674,182 (GRCm39) S373P possibly damaging Het
Adam7 A G 14: 68,742,546 (GRCm39) I689T possibly damaging Het
Akap11 G A 14: 78,752,336 (GRCm39) T179I probably damaging Het
Ankmy1 T C 1: 92,816,187 (GRCm39) K309R possibly damaging Het
Apaf1 A T 10: 90,859,673 (GRCm39) I824N probably damaging Het
Apc2 T A 10: 80,148,488 (GRCm39) C1152S probably damaging Het
Arhgap17 C A 7: 122,899,727 (GRCm39) W409L probably damaging Het
Arhgef15 T C 11: 68,845,796 (GRCm39) I19V unknown Het
Arnt C A 3: 95,397,936 (GRCm39) P573H probably damaging Het
Arvcf G A 16: 18,223,882 (GRCm39) G932R probably damaging Het
Atg4a-ps C T 3: 103,553,044 (GRCm39) W99* probably null Het
Atp13a5 T A 16: 29,056,004 (GRCm39) D1052V probably benign Het
Atp2b4 T C 1: 133,642,797 (GRCm39) T1103A probably damaging Het
B4galnt4 C A 7: 140,647,335 (GRCm39) Q362K possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cep170b A T 12: 112,698,502 (GRCm39) I87F probably damaging Het
Coq3 T G 4: 21,900,486 (GRCm39) C238G probably benign Het
Cpa5 A T 6: 30,614,044 (GRCm39) Q62L probably benign Het
Ctsg A T 14: 56,339,110 (GRCm39) C49* probably null Het
Cul9 T C 17: 46,819,489 (GRCm39) T2000A probably damaging Het
Dedd C T 1: 171,167,790 (GRCm39) P155S probably benign Het
Dnah1 A G 14: 30,997,565 (GRCm39) S2598P probably damaging Het
Dnah14 C T 1: 181,433,459 (GRCm39) P379S possibly damaging Het
Dync2h1 A T 9: 7,165,703 (GRCm39) S519R probably benign Het
Eea1 A G 10: 95,874,660 (GRCm39) S1192G probably benign Het
Eif5b T C 1: 38,084,760 (GRCm39) I869T probably damaging Het
Elavl4 C A 4: 110,112,651 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Exoc3l2 G A 7: 19,203,635 (GRCm39) A76T possibly damaging Het
Fam89b T C 19: 5,778,757 (GRCm39) Y144C probably damaging Het
Greb1 T C 12: 16,749,580 (GRCm39) E1082G probably damaging Het
Gtf3a A T 5: 146,890,798 (GRCm39) probably null Het
Hoxc12 C A 15: 102,845,524 (GRCm39) F79L possibly damaging Het
Hspb8 G T 5: 116,547,491 (GRCm39) L164I probably damaging Het
Ina C T 19: 47,003,564 (GRCm39) A124V probably benign Het
Inhbb T A 1: 119,345,411 (GRCm39) I293F probably damaging Het
Itpr3 A G 17: 27,314,449 (GRCm39) Y633C possibly damaging Het
Jag2 C T 12: 112,872,949 (GRCm39) V1102I probably benign Het
Kalrn A T 16: 33,796,361 (GRCm39) F1138Y probably benign Het
Large2 T A 2: 92,200,853 (GRCm39) probably benign Het
Lats2 A G 14: 57,959,966 (GRCm39) S177P probably benign Het
Lims2 G A 18: 32,087,515 (GRCm39) R124H possibly damaging Het
Lrp2 T A 2: 69,313,787 (GRCm39) T2315S probably benign Het
Lrrc4c A C 2: 97,459,391 (GRCm39) T6P probably benign Het
Lrrk2 T C 15: 91,626,469 (GRCm39) L1171S possibly damaging Het
Man2b2 A T 5: 36,978,378 (GRCm39) M302K probably damaging Het
Mocos G A 18: 24,834,542 (GRCm39) G860R possibly damaging Het
Mylk3 T A 8: 86,085,571 (GRCm39) D258V possibly damaging Het
Nkx1-2 C T 7: 132,201,240 (GRCm39) D6N probably damaging Het
Nrp2 A G 1: 62,758,176 (GRCm39) N54S possibly damaging Het
Nt5el T C 13: 105,256,473 (GRCm39) I514T possibly damaging Het
Or2d2 A G 7: 106,727,848 (GRCm39) F251L probably benign Het
Pacsin1 A T 17: 27,926,879 (GRCm39) T195S probably benign Het
Pank4 T C 4: 155,056,693 (GRCm39) probably null Het
Pdgfra A T 5: 75,327,180 (GRCm39) M126L probably benign Het
Podxl T A 6: 31,505,432 (GRCm39) T204S probably benign Het
Pole G A 5: 110,484,240 (GRCm39) D2175N probably damaging Het
Pramel16 C T 4: 143,677,267 (GRCm39) G104E probably benign Het
Prkdc A G 16: 15,587,749 (GRCm39) K2545E probably benign Het
Prodh T C 16: 17,897,849 (GRCm39) I183V probably benign Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rapgef5 G A 12: 117,684,988 (GRCm39) V246M probably damaging Het
Rubcnl A G 14: 75,269,834 (GRCm39) N164S probably benign Het
Samd4 A T 14: 47,290,419 (GRCm39) L175F probably damaging Het
Scart1 G A 7: 139,808,642 (GRCm39) G851D probably damaging Het
Scimp C A 11: 70,688,893 (GRCm39) W41L possibly damaging Het
Scn3a T A 2: 65,291,843 (GRCm39) K1634N possibly damaging Het
Spta1 A G 1: 174,030,888 (GRCm39) R957G probably benign Het
Sptlc3 T A 2: 139,478,692 (GRCm39) N550K probably benign Het
Srebf1 T C 11: 60,094,361 (GRCm39) N609D probably null Het
Styxl1 A T 5: 135,776,664 (GRCm39) L164H probably benign Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Tnfsf15 T C 4: 63,663,267 (GRCm39) M19V probably damaging Het
Trappc8 G C 18: 20,970,132 (GRCm39) R953G probably benign Het
Trav13-1 A G 14: 53,782,800 (GRCm39) N50S probably benign Het
Trim12a T C 7: 103,955,241 (GRCm39) K161E probably benign Het
Vipr1 C A 9: 121,493,640 (GRCm39) N230K probably damaging Het
Xirp1 A T 9: 119,847,557 (GRCm39) V3E probably damaging Het
Zfp768 A G 7: 126,943,892 (GRCm39) F82L probably benign Het
Other mutations in Ets2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ets2 APN 16 95,513,185 (GRCm39) missense probably benign 0.01
IGL00843:Ets2 APN 16 95,510,837 (GRCm39) missense probably benign 0.03
IGL01911:Ets2 APN 16 95,512,802 (GRCm39) missense probably damaging 1.00
R0257:Ets2 UTSW 16 95,513,245 (GRCm39) nonsense probably null
R0317:Ets2 UTSW 16 95,513,193 (GRCm39) missense probably damaging 1.00
R0398:Ets2 UTSW 16 95,517,267 (GRCm39) missense probably damaging 1.00
R0478:Ets2 UTSW 16 95,517,306 (GRCm39) missense probably damaging 1.00
R0634:Ets2 UTSW 16 95,517,200 (GRCm39) missense possibly damaging 0.87
R1621:Ets2 UTSW 16 95,510,913 (GRCm39) missense probably damaging 1.00
R1868:Ets2 UTSW 16 95,516,118 (GRCm39) missense probably benign 0.00
R2120:Ets2 UTSW 16 95,519,977 (GRCm39) missense probably benign 0.17
R3037:Ets2 UTSW 16 95,517,109 (GRCm39) missense probably benign 0.19
R3915:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R4086:Ets2 UTSW 16 95,510,833 (GRCm39) missense probably damaging 1.00
R4609:Ets2 UTSW 16 95,512,818 (GRCm39) missense probably benign 0.03
R4760:Ets2 UTSW 16 95,520,087 (GRCm39) missense probably damaging 1.00
R5245:Ets2 UTSW 16 95,513,304 (GRCm39) nonsense probably null
R5551:Ets2 UTSW 16 95,513,165 (GRCm39) missense probably damaging 1.00
R6057:Ets2 UTSW 16 95,515,416 (GRCm39) missense probably benign 0.00
R7545:Ets2 UTSW 16 95,516,127 (GRCm39) missense probably benign 0.45
R7905:Ets2 UTSW 16 95,507,304 (GRCm39) missense probably damaging 0.97
R8013:Ets2 UTSW 16 95,517,144 (GRCm39) missense probably damaging 1.00
R8297:Ets2 UTSW 16 95,507,321 (GRCm39) missense probably damaging 1.00
R8482:Ets2 UTSW 16 95,516,019 (GRCm39) missense probably benign 0.00
R9489:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
R9605:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTGAACATCTGTCGGTCCCAG -3'
(R):5'- CTTTGGAGCAAGTGGGTCAG -3'

Sequencing Primer
(F):5'- CCCAGTGACAGTCAGGTTTTTCAG -3'
(R):5'- ACGGGCTTCCCACTCAGTC -3'
Posted On 2018-05-04