Incidental Mutation 'R1702:Egr3'
ID 189832
Institutional Source Beutler Lab
Gene Symbol Egr3
Ensembl Gene ENSMUSG00000033730
Gene Name early growth response 3
Synonyms Pilot
MMRRC Submission 039735-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R1702 (G1)
Quality Score 214
Status Not validated
Chromosome 14
Chromosomal Location 70314766-70320062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70317216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 342 (F342L)
Ref Sequence ENSEMBL: ENSMUSP00000153491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035908] [ENSMUST00000225200]
AlphaFold P43300
Predicted Effect possibly damaging
Transcript: ENSMUST00000035908
AA Change: F304L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037042
Gene: ENSMUSG00000033730
AA Change: F304L

DomainStartEndE-ValueType
Pfam:DUF3446 87 156 3.6e-13 PFAM
ZnF_C2H2 275 299 3.95e-4 SMART
ZnF_C2H2 305 327 5.14e-3 SMART
ZnF_C2H2 333 355 1.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223809
Predicted Effect probably damaging
Transcript: ENSMUST00000225200
AA Change: F342L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mutants exhibit partial postnatal lethality, sensory ataxia, resting tremors, blepharoptosis, scoliosis, muscle spindle agenesis, loss of myelinated proprioceptive neurons, and a defect in the strength of sensory-motor connections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,981,925 (GRCm39) V1080A probably benign Het
Abcg4 A C 9: 44,186,370 (GRCm39) V553G probably damaging Het
Ache T C 5: 137,289,251 (GRCm39) V319A possibly damaging Het
Acsm2 T A 7: 119,172,787 (GRCm39) M134K possibly damaging Het
Ank2 A T 3: 126,749,548 (GRCm39) S494T probably benign Het
Asic3 A T 5: 24,620,454 (GRCm39) T202S probably damaging Het
Baiap3 T A 17: 25,463,779 (GRCm39) H886L probably damaging Het
Bltp2 T A 11: 78,179,854 (GRCm39) C2126S probably damaging Het
Cidea T A 18: 67,499,491 (GRCm39) I126K probably damaging Het
Cmklr1 T G 5: 113,751,903 (GRCm39) K366T probably benign Het
Cntrl A T 2: 35,061,848 (GRCm39) probably null Het
Crhr2 A G 6: 55,069,520 (GRCm39) F378S probably damaging Het
Deaf1 C G 7: 140,894,867 (GRCm39) R303T probably damaging Het
Dnah9 T A 11: 65,976,021 (GRCm39) N1343Y possibly damaging Het
Dop1b A G 16: 93,544,509 (GRCm39) K99E possibly damaging Het
Dpp4 A T 2: 62,216,773 (GRCm39) probably null Het
Dst T C 1: 34,206,421 (GRCm39) V598A probably damaging Het
Ece2 C T 16: 20,449,996 (GRCm39) R136C probably damaging Het
Efcab3 C T 11: 104,581,832 (GRCm39) P58L probably benign Het
Egf C A 3: 129,484,460 (GRCm39) V453L probably benign Het
Eif2ak2 A T 17: 79,164,063 (GRCm39) I434N probably damaging Het
Emc1 A G 4: 139,102,512 (GRCm39) T936A probably damaging Het
Fmod A T 1: 133,968,500 (GRCm39) E180V probably damaging Het
Gabrg3 T C 7: 56,634,848 (GRCm39) T112A probably damaging Het
Gak T C 5: 108,754,242 (GRCm39) probably null Het
Gas2 T A 7: 51,603,089 (GRCm39) probably null Het
Gm2381 T A 7: 42,469,655 (GRCm39) Q156H probably benign Het
Golga2 T A 2: 32,189,287 (GRCm39) S273T probably damaging Het
Homez T A 14: 55,094,452 (GRCm39) T419S probably damaging Het
Igfbp6 T A 15: 102,056,617 (GRCm39) Y184* probably null Het
Il11 A G 7: 4,776,733 (GRCm39) S86P probably damaging Het
Itgal A G 7: 126,904,197 (GRCm39) N270S probably benign Het
Lama2 T C 10: 27,066,525 (GRCm39) R1119G probably benign Het
Lamp3 G T 16: 19,494,822 (GRCm39) N294K probably benign Het
Mars1 T C 10: 127,145,948 (GRCm39) I113M possibly damaging Het
Mgat5b A G 11: 116,839,485 (GRCm39) T334A possibly damaging Het
Mis18bp1 A G 12: 65,208,518 (GRCm39) I65T probably benign Het
Mmrn2 A T 14: 34,119,871 (GRCm39) N247I probably benign Het
Muc6 G T 7: 141,236,752 (GRCm39) N322K probably damaging Het
Mx2 A G 16: 97,359,883 (GRCm39) H551R probably benign Het
Mylk T A 16: 34,742,314 (GRCm39) V942E probably benign Het
Nes A G 3: 87,883,286 (GRCm39) E515G probably benign Het
Nfatc3 T G 8: 106,818,792 (GRCm39) S503R probably damaging Het
Nkain3 C A 4: 20,158,339 (GRCm39) probably null Het
Noxa1 A G 2: 24,982,596 (GRCm39) V73A probably damaging Het
Nup160 A T 2: 90,514,302 (GRCm39) E83D probably damaging Het
Or12j3 A T 7: 139,952,655 (GRCm39) Y289* probably null Het
Or4z4 C A 19: 12,076,530 (GRCm39) V158L probably benign Het
Or5ac23 C A 16: 59,149,504 (GRCm39) V123L probably benign Het
Or8b56 A G 9: 38,739,839 (GRCm39) Y284C probably damaging Het
Plxnb2 A G 15: 89,046,187 (GRCm39) probably null Het
Rundc3b A G 5: 8,562,318 (GRCm39) V350A probably benign Het
Scn1a C T 2: 66,148,567 (GRCm39) D993N probably damaging Het
Sec24c G T 14: 20,736,641 (GRCm39) G226V probably null Het
Septin11 T A 5: 93,304,783 (GRCm39) I200N probably damaging Het
Shank3 G T 15: 89,384,099 (GRCm39) G14C probably damaging Het
Skic3 A G 13: 76,270,862 (GRCm39) K153R possibly damaging Het
Slc25a39 T C 11: 102,297,452 (GRCm39) D5G possibly damaging Het
Stoml3 A T 3: 53,412,852 (GRCm39) T169S probably benign Het
Taf1b T A 12: 24,559,125 (GRCm39) I83K possibly damaging Het
Tarbp1 T A 8: 127,154,957 (GRCm39) Q1389L probably damaging Het
Thbs1 T A 2: 117,943,923 (GRCm39) D180E probably benign Het
Tmc5 T A 7: 118,271,462 (GRCm39) V925D probably benign Het
Tmem62 T C 2: 120,809,708 (GRCm39) V130A probably damaging Het
Tpp2 C T 1: 44,029,708 (GRCm39) P997L probably damaging Het
Trip12 A T 1: 84,722,784 (GRCm39) I127N probably damaging Het
Upp2 T C 2: 58,661,562 (GRCm39) F142L possibly damaging Het
Usf3 C T 16: 44,039,995 (GRCm39) Q1492* probably null Het
Vcp T C 4: 42,990,840 (GRCm39) D205G probably damaging Het
Vmn1r180 G A 7: 23,652,394 (GRCm39) V186I possibly damaging Het
Washc2 T C 6: 116,206,267 (GRCm39) S496P probably damaging Het
Wee2 T C 6: 40,441,135 (GRCm39) I480T probably benign Het
Xylt2 T A 11: 94,559,571 (GRCm39) H357L probably damaging Het
Zbed4 T C 15: 88,665,056 (GRCm39) S375P probably damaging Het
Zfp442 A T 2: 150,251,100 (GRCm39) Y266* probably null Het
Zfp600 A G 4: 146,133,497 (GRCm39) T722A probably benign Het
Zfp976 T A 7: 42,265,424 (GRCm39) H55L possibly damaging Het
Other mutations in Egr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Egr3 APN 14 70,316,732 (GRCm39) missense probably damaging 1.00
IGL03054:Egr3 UTSW 14 70,316,561 (GRCm39) missense probably damaging 1.00
R4796:Egr3 UTSW 14 70,315,024 (GRCm39) missense probably benign 0.15
R5911:Egr3 UTSW 14 70,316,897 (GRCm39) missense probably damaging 0.99
R6514:Egr3 UTSW 14 70,316,366 (GRCm39) missense probably damaging 0.98
R7674:Egr3 UTSW 14 70,315,526 (GRCm39) critical splice donor site probably null
R7887:Egr3 UTSW 14 70,316,651 (GRCm39) missense probably damaging 1.00
R9055:Egr3 UTSW 14 70,316,349 (GRCm39) missense probably damaging 0.98
R9363:Egr3 UTSW 14 70,316,761 (GRCm39) missense possibly damaging 0.46
R9514:Egr3 UTSW 14 70,314,978 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTACCCCACTGGAGACCATCAAGG -3'
(R):5'- CCTAACTGAACAAAGCGGGCTAGAC -3'

Sequencing Primer
(F):5'- TGTGACCGCCGTTTCAG -3'
(R):5'- TCTGCTTTCAGGCGACCAG -3'
Posted On 2014-05-14