Incidental Mutation 'R7640:En2'
ID 590179
Institutional Source Beutler Lab
Gene Symbol En2
Ensembl Gene ENSMUSG00000039095
Gene Name engrailed 2
Synonyms En-2
MMRRC Submission 045698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R7640 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 28165694-28172166 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 28170166 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 236 (K236*)
Ref Sequence ENSEMBL: ENSMUSP00000036761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036177]
AlphaFold P09066
Predicted Effect probably null
Transcript: ENSMUST00000036177
AA Change: K236*
SMART Domains Protein: ENSMUSP00000036761
Gene: ENSMUSG00000039095
AA Change: K236*

low complexity region 21 39 N/A INTRINSIC
low complexity region 81 112 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
HOX 235 297 1.72e-25 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus affects anterior-posterior cerebellar patterning. Homozygous null mutants show altered foliation pattern and perform poorly in motor learning (rotarod) tests. Heterozygotes test intermediate on rotarod. Hypomorphs show no phenotypic effects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,454,594 (GRCm38) N20I probably damaging Het
1700020D05Rik T A 19: 5,503,007 (GRCm38) S249C probably damaging Het
4930558K02Rik A G 1: 161,957,149 (GRCm38) S74P probably benign Het
4932415D10Rik T A 10: 82,294,656 (GRCm38) N840I probably damaging Het
Abcb6 A T 1: 75,174,845 (GRCm38) probably null Het
Adamts14 C A 10: 61,246,057 (GRCm38) A234S probably benign Het
Ankrd42 A G 7: 92,619,635 (GRCm38) S167P probably benign Het
Ap3m1 T C 14: 21,038,175 (GRCm38) I272V probably benign Het
Armt1 T C 10: 4,453,572 (GRCm38) F219S probably damaging Het
Atr T G 9: 95,907,293 (GRCm38) probably null Het
Cep72 G A 13: 74,058,488 (GRCm38) Q72* probably null Het
Clock G T 5: 76,248,378 (GRCm38) L175M possibly damaging Het
Cnmd T A 14: 79,661,534 (GRCm38) Y26F possibly damaging Het
Col6a6 A T 9: 105,785,744 (GRCm38) M198K possibly damaging Het
Cuta C T 17: 26,938,422 (GRCm38) V135I probably benign Het
Ddx41 A T 13: 55,534,239 (GRCm38) M241K possibly damaging Het
Dnajc22 A G 15: 99,101,114 (GRCm38) N60S probably damaging Het
Drc3 A G 11: 60,388,904 (GRCm38) M432V probably benign Het
Eef1d C A 15: 75,902,707 (GRCm38) G368C probably damaging Het
Fas A G 19: 34,307,164 (GRCm38) T24A possibly damaging Het
Gm13078 T C 4: 143,726,706 (GRCm38) V128A probably benign Het
Golga2 T C 2: 32,306,239 (GRCm38) V930A probably benign Het
Gprin2 G T 14: 34,195,753 (GRCm38) A20D probably benign Het
Ighv14-4 A T 12: 114,176,444 (GRCm38) C115* probably null Het
Impdh2 T C 9: 108,565,181 (GRCm38) Y459H possibly damaging Het
Klhdc7b G T 15: 89,387,260 (GRCm38) V124L possibly damaging Het
L2hgdh A T 12: 69,721,357 (GRCm38) Y122* probably null Het
Lamc2 A T 1: 153,136,804 (GRCm38) I708N possibly damaging Het
Large2 T C 2: 92,374,705 (GRCm38) M1V probably null Het
Lrit2 T C 14: 37,072,124 (GRCm38) W382R probably damaging Het
Mcee T A 7: 64,411,968 (GRCm38) V173E probably damaging Het
Mcph1 T A 8: 18,632,326 (GRCm38) V493E probably benign Het
Mfap4 A G 11: 61,487,087 (GRCm38) N118D probably damaging Het
Mknk2 T C 10: 80,668,566 (GRCm38) S301G probably benign Het
Mlf1 G A 3: 67,392,933 (GRCm38) M94I possibly damaging Het
Mrc2 T A 11: 105,332,295 (GRCm38) S455T possibly damaging Het
Mrgprb5 T G 7: 48,168,259 (GRCm38) I243L probably benign Het
Muc4 C A 16: 32,760,105 (GRCm38) P360T Het
Nat10 G A 2: 103,743,090 (GRCm38) A354V probably damaging Het
Nts T C 10: 102,490,304 (GRCm38) Q7R possibly damaging Het
Oas1b T C 5: 120,821,414 (GRCm38) L288P probably damaging Het
Olfr1076 A G 2: 86,508,943 (GRCm38) I161M possibly damaging Het
Olfr1131 A G 2: 87,629,092 (GRCm38) I94V probably benign Het
Olfr1196 T A 2: 88,700,886 (GRCm38) I148L probably benign Het
Olfr633 A T 7: 103,946,943 (GRCm38) I126F probably damaging Het
Otoa A G 7: 121,145,626 (GRCm38) E869G probably damaging Het
Pcdhac2 T C 18: 37,144,525 (GRCm38) L186P probably damaging Het
Plekhh2 A G 17: 84,610,776 (GRCm38) E1271G possibly damaging Het
Pmepa1 C T 2: 173,276,163 (GRCm38) A8T probably benign Het
Rc3h2 A G 2: 37,377,849 (GRCm38) probably null Het
Rlf T A 4: 121,146,801 (GRCm38) M1771L possibly damaging Het
Rpap1 G A 2: 119,764,410 (GRCm38) P1372L possibly damaging Het
Rragd A T 4: 32,983,527 (GRCm38) D22V probably benign Het
Sema3f A T 9: 107,683,575 (GRCm38) S644R probably benign Het
Sp110 G A 1: 85,579,092 (GRCm38) R417C probably benign Het
Specc1l T A 10: 75,257,869 (GRCm38) N717K probably damaging Het
Sphkap C T 1: 83,278,928 (GRCm38) D367N possibly damaging Het
Tbc1d21 C T 9: 58,361,261 (GRCm38) V272M probably damaging Het
Tmem132c A G 5: 127,563,006 (GRCm38) D747G probably damaging Het
Tmem56 A G 3: 121,235,041 (GRCm38) probably null Het
Trim2 C A 3: 84,190,906 (GRCm38) V372F probably benign Het
Ttc34 A G 4: 154,861,384 (GRCm38) T292A probably benign Het
Ube3b A G 5: 114,415,323 (GRCm38) T919A probably benign Het
Wdr34 T G 2: 30,031,768 (GRCm38) D527A probably benign Het
Zfhx4 T C 3: 5,412,480 (GRCm38) I3385T probably benign Het
Zfp423 T C 8: 87,781,277 (GRCm38) K813R probably damaging Het
Zfp850 T C 7: 27,989,209 (GRCm38) T525A probably benign Het
Zfp873 T C 10: 82,060,275 (GRCm38) I280T possibly damaging Het
Zkscan7 A G 9: 122,896,056 (GRCm38) T697A possibly damaging Het
Other mutations in En2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02943:En2 APN 5 28,166,526 (GRCm38) utr 5 prime probably benign
R0928:En2 UTSW 5 28,170,331 (GRCm38) nonsense probably null
R2083:En2 UTSW 5 28,167,073 (GRCm38) missense probably damaging 0.98
R2356:En2 UTSW 5 28,166,332 (GRCm38) start gained probably benign
R2762:En2 UTSW 5 28,170,421 (GRCm38) missense probably damaging 0.99
R5470:En2 UTSW 5 28,166,924 (GRCm38) missense probably benign 0.03
R5760:En2 UTSW 5 28,166,999 (GRCm38) missense probably benign 0.41
R6762:En2 UTSW 5 28,170,353 (GRCm38) missense possibly damaging 0.65
R7687:En2 UTSW 5 28,170,289 (GRCm38) missense probably damaging 1.00
R7827:En2 UTSW 5 28,166,596 (GRCm38) missense probably benign
R8409:En2 UTSW 5 28,166,884 (GRCm38) missense probably benign
R8861:En2 UTSW 5 28,166,735 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-24