Incidental Mutation 'R9435:Egr2'
ID 713240
Institutional Source Beutler Lab
Gene Symbol Egr2
Ensembl Gene ENSMUSG00000037868
Gene Name early growth response 2
Synonyms Krox-20, Krox20, NGF1-B, Zfp-25, Egr-2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9435 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 67371305-67378018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67375628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 75 (Y75H)
Ref Sequence ENSEMBL: ENSMUSP00000041053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048289] [ENSMUST00000075686] [ENSMUST00000105438] [ENSMUST00000127820] [ENSMUST00000130933] [ENSMUST00000145754] [ENSMUST00000145936] [ENSMUST00000146986]
AlphaFold P08152
Predicted Effect probably damaging
Transcript: ENSMUST00000048289
AA Change: Y75H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041053
Gene: ENSMUSG00000037868
AA Change: Y75H

DomainStartEndE-ValueType
Pfam:DUF3446 94 184 2.5e-26 PFAM
low complexity region 190 217 N/A INTRINSIC
low complexity region 272 298 N/A INTRINSIC
low complexity region 312 321 N/A INTRINSIC
ZnF_C2H2 337 361 1.06e-4 SMART
ZnF_C2H2 367 389 2.91e-2 SMART
ZnF_C2H2 395 417 1.45e-2 SMART
low complexity region 425 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075686
SMART Domains Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134

DomainStartEndE-ValueType
Pfam:DUF1637 45 254 2.7e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105438
AA Change: Y25H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101078
Gene: ENSMUSG00000037868
AA Change: Y25H

DomainStartEndE-ValueType
Pfam:DUF3446 44 134 1.3e-27 PFAM
low complexity region 140 167 N/A INTRINSIC
low complexity region 222 248 N/A INTRINSIC
low complexity region 262 271 N/A INTRINSIC
ZnF_C2H2 287 311 1.06e-4 SMART
ZnF_C2H2 317 339 2.91e-2 SMART
ZnF_C2H2 345 367 1.45e-2 SMART
low complexity region 375 399 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127820
AA Change: Y17H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116799
Gene: ENSMUSG00000037868
AA Change: Y17H

DomainStartEndE-ValueType
Pfam:DUF3446 36 126 1.3e-27 PFAM
low complexity region 132 159 N/A INTRINSIC
low complexity region 214 240 N/A INTRINSIC
low complexity region 254 263 N/A INTRINSIC
ZnF_C2H2 279 303 1.06e-4 SMART
ZnF_C2H2 309 331 2.91e-2 SMART
ZnF_C2H2 337 359 1.45e-2 SMART
low complexity region 367 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130933
Predicted Effect probably damaging
Transcript: ENSMUST00000145754
AA Change: Y88H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116621
Gene: ENSMUSG00000037868
AA Change: Y88H

DomainStartEndE-ValueType
Pfam:DUF3446 107 197 4.4e-28 PFAM
low complexity region 203 230 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000145936
AA Change: Y88H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115709
Gene: ENSMUSG00000037868
AA Change: Y88H

DomainStartEndE-ValueType
Pfam:DUF3446 107 197 3.7e-29 PFAM
low complexity region 203 230 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146986
AA Change: Y25H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118941
Gene: ENSMUSG00000037868
AA Change: Y25H

DomainStartEndE-ValueType
Pfam:DUF3446 44 72 7.5e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,562 (GRCm39) D1134E probably benign Het
Abca5 C T 11: 110,182,911 (GRCm39) probably null Het
Acp2 A G 2: 91,036,409 (GRCm39) T169A probably damaging Het
Agtpbp1 A T 13: 59,622,429 (GRCm39) N932K probably benign Het
Aldh5a1 G A 13: 25,121,293 (GRCm39) R87C probably damaging Het
Bpifa1 G T 2: 153,985,843 (GRCm39) A53S unknown Het
Cacna2d2 T C 9: 107,396,384 (GRCm39) I667T probably benign Het
Catsperg1 T A 7: 28,889,751 (GRCm39) T784S probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Cd46 C G 1: 194,767,720 (GRCm39) D114H probably damaging Het
Cd82 A T 2: 93,267,740 (GRCm39) L19Q probably damaging Het
Celsr1 T C 15: 85,806,535 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,961,885 (GRCm39) I180T possibly damaging Het
Drg2 T C 11: 60,358,966 (GRCm39) V362A probably benign Het
Eef2 T A 10: 81,014,994 (GRCm39) M231K probably benign Het
Exoc6 A C 19: 37,585,545 (GRCm39) Q473H probably benign Het
Focad T A 4: 88,267,076 (GRCm39) M1029K unknown Het
Fpr-rs4 T A 17: 18,242,391 (GRCm39) S133T probably benign Het
Gbf1 T C 19: 46,268,432 (GRCm39) V1322A probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gm7579 GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG 7: 141,765,782 (GRCm39) probably benign Het
Golph3l T C 3: 95,496,369 (GRCm39) V31A probably benign Het
Iars2 A T 1: 185,034,913 (GRCm39) V610D probably damaging Het
Igsf6 T A 7: 120,666,472 (GRCm39) I203F probably damaging Het
Ildr2 A G 1: 166,136,691 (GRCm39) Y510C probably damaging Het
Iqcf4 C A 9: 106,445,652 (GRCm39) R165L possibly damaging Het
Itgb1bp1 T G 12: 21,320,943 (GRCm39) I183L possibly damaging Het
Itgb4 A C 11: 115,895,855 (GRCm39) S1414R probably benign Het
Kbtbd7 G T 14: 79,664,944 (GRCm39) A259S probably benign Het
Kif14 T A 1: 136,401,174 (GRCm39) D508E possibly damaging Het
Klc2 A T 19: 5,159,662 (GRCm39) D484E possibly damaging Het
Lamc2 T C 1: 153,013,072 (GRCm39) S630G probably benign Het
Myl6b G A 10: 128,331,066 (GRCm39) T125M possibly damaging Het
Nbea T A 3: 55,943,309 (GRCm39) K655N possibly damaging Het
Nkx3-2 T C 5: 41,919,493 (GRCm39) D165G probably benign Het
Npy A T 6: 49,804,481 (GRCm39) R67S probably damaging Het
Nrg3 A T 14: 39,194,556 (GRCm39) C68S possibly damaging Het
Nup160 C T 2: 90,560,138 (GRCm39) P1288S probably damaging Het
Or52e15 T C 7: 104,645,946 (GRCm39) H55R probably benign Het
Or8g33 A G 9: 39,337,506 (GRCm39) L287P probably benign Het
Pam T A 1: 97,822,144 (GRCm39) I287L probably benign Het
Phf10 T C 17: 15,165,387 (GRCm39) R490G probably benign Het
Prim2 T C 1: 33,523,876 (GRCm39) Y345C probably damaging Het
Ptchd3 C T 11: 121,721,646 (GRCm39) A173V probably benign Het
Rab8b G A 9: 66,755,912 (GRCm39) R167W probably damaging Het
S100a3 A G 3: 90,509,502 (GRCm39) E49G probably benign Het
Slc41a1 T A 1: 131,766,896 (GRCm39) V138E probably damaging Het
Slit1 C A 19: 41,591,764 (GRCm39) probably null Het
Sntg1 T A 1: 8,433,814 (GRCm39) H479L probably damaging Het
Stam T A 2: 14,120,801 (GRCm39) C72S probably damaging Het
Sval2 G T 6: 41,840,795 (GRCm39) A93S probably benign Het
Tas2r103 T A 6: 133,013,686 (GRCm39) K127* probably null Het
Trank1 C T 9: 111,193,890 (GRCm39) T638M probably benign Het
Utrn T A 10: 12,519,173 (GRCm39) I2260F probably damaging Het
Zfp268 G C 4: 145,349,045 (GRCm39) E161Q Het
Zfp280d T C 9: 72,226,599 (GRCm39) probably null Het
Other mutations in Egr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Egr2 APN 10 67,376,208 (GRCm39) splice site probably null
IGL01933:Egr2 APN 10 67,376,024 (GRCm39) missense probably damaging 0.99
IGL02093:Egr2 APN 10 67,375,854 (GRCm39) missense probably damaging 1.00
Puyol UTSW 10 67,375,733 (GRCm39) frame shift probably null
R0045:Egr2 UTSW 10 67,376,310 (GRCm39) missense probably benign 0.01
R1572:Egr2 UTSW 10 67,375,805 (GRCm39) missense probably damaging 1.00
R1992:Egr2 UTSW 10 67,375,857 (GRCm39) missense probably damaging 0.99
R2139:Egr2 UTSW 10 67,376,702 (GRCm39) missense probably damaging 0.99
R3012:Egr2 UTSW 10 67,375,733 (GRCm39) frame shift probably null
R4454:Egr2 UTSW 10 67,375,733 (GRCm39) frame shift probably null
R4455:Egr2 UTSW 10 67,375,733 (GRCm39) frame shift probably null
R4458:Egr2 UTSW 10 67,375,733 (GRCm39) frame shift probably null
R4462:Egr2 UTSW 10 67,375,733 (GRCm39) frame shift probably null
R4903:Egr2 UTSW 10 67,374,163 (GRCm39) missense probably damaging 1.00
R5133:Egr2 UTSW 10 67,375,605 (GRCm39) missense probably damaging 0.99
R5566:Egr2 UTSW 10 67,376,596 (GRCm39) nonsense probably null
R8462:Egr2 UTSW 10 67,374,173 (GRCm39) missense probably null 0.99
Predicted Primers PCR Primer
(F):5'- GAATCATGAAATGGGGATTGCC -3'
(R):5'- TCCAGTTCAGGCTGAGTCTG -3'

Sequencing Primer
(F):5'- CATGAAATGGGGATTGCCGTGTG -3'
(R):5'- CTGAGTCTGGGACATGGTAC -3'
Posted On 2022-05-16