Incidental Mutation 'R5760:En2'
ID 445236
Institutional Source Beutler Lab
Gene Symbol En2
Ensembl Gene ENSMUSG00000039095
Gene Name engrailed 2
Synonyms En-2
MMRRC Submission 043362-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.699) question?
Stock # R5760 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 28370692-28377164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28371997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 158 (A158D)
Ref Sequence ENSEMBL: ENSMUSP00000036761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036177]
AlphaFold P09066
Predicted Effect probably benign
Transcript: ENSMUST00000036177
AA Change: A158D

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036761
Gene: ENSMUSG00000039095
AA Change: A158D

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199117
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik T C 15: 37,439,835 (GRCm39) probably benign Het
Abl2 C T 1: 156,469,427 (GRCm39) T793M probably benign Het
Accs A C 2: 93,676,105 (GRCm39) L90R probably damaging Het
Ahnak A T 19: 8,990,926 (GRCm39) D4070V probably damaging Het
Apbb2 A G 5: 66,520,100 (GRCm39) V475A probably benign Het
Atp10d T A 5: 72,418,280 (GRCm39) V602E probably benign Het
Cdh23 C T 10: 60,242,171 (GRCm39) V1088M probably damaging Het
Dennd6a A T 14: 26,333,195 (GRCm39) I144L probably damaging Het
Dnajc6 G A 4: 101,475,839 (GRCm39) A571T probably benign Het
Drap1 A G 19: 5,474,391 (GRCm39) I18T probably damaging Het
Fbn1 C T 2: 125,203,167 (GRCm39) G1219R probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm7535 C T 17: 18,132,080 (GRCm39) probably benign Het
Hao2 A T 3: 98,787,748 (GRCm39) L227* probably null Het
Hdlbp C T 1: 93,368,499 (GRCm39) probably benign Het
Hivep3 A G 4: 119,952,208 (GRCm39) K175E possibly damaging Het
Hmcn2 G A 2: 31,304,580 (GRCm39) A3075T possibly damaging Het
Igkv6-15 A T 6: 70,383,516 (GRCm39) I95N probably damaging Het
Itgad A T 7: 127,802,537 (GRCm39) Q1001L probably benign Het
Jaml T A 9: 45,009,052 (GRCm39) M151K probably benign Het
Lix1 T A 17: 17,647,499 (GRCm39) V55D possibly damaging Het
Macf1 A G 4: 123,407,677 (GRCm39) S179P probably damaging Het
Matn2 T A 15: 34,355,753 (GRCm39) Q33L possibly damaging Het
Mcm3 CT CTT 1: 20,878,972 (GRCm39) probably null Het
Mroh5 A C 15: 73,693,356 (GRCm39) I28S probably damaging Het
Naip5 T G 13: 100,379,346 (GRCm39) K231N probably damaging Het
Neb A C 2: 52,073,830 (GRCm39) Y5683D probably damaging Het
Npc1l1 A T 11: 6,179,031 (GRCm39) H126Q probably benign Het
Npm2 A G 14: 70,886,935 (GRCm39) F110L probably damaging Het
Nsd3 A T 8: 26,149,772 (GRCm39) H319L probably damaging Het
Nup205 G A 6: 35,224,278 (GRCm39) R2039Q probably damaging Het
Or10j7 C A 1: 173,011,318 (GRCm39) A228S probably benign Het
Or6b2b A G 1: 92,418,922 (GRCm39) L185P possibly damaging Het
Or7d10 A C 9: 19,832,050 (GRCm39) T182P probably benign Het
Pcdhac2 G A 18: 37,279,453 (GRCm39) G811E probably damaging Het
Pkhd1 T A 1: 20,143,778 (GRCm39) R3849S probably benign Het
Pmfbp1 A T 8: 110,247,655 (GRCm39) D317V probably damaging Het
Sall1 T C 8: 89,755,278 (GRCm39) N1234D possibly damaging Het
Slc12a7 T A 13: 73,961,741 (GRCm39) V1037D probably damaging Het
Slc12a8 G T 16: 33,445,155 (GRCm39) E404* probably null Het
Tchhl1 C G 3: 93,378,863 (GRCm39) S522R probably damaging Het
Tgif1 A G 17: 71,151,996 (GRCm39) V152A probably damaging Het
Tshz3 C A 7: 36,470,994 (GRCm39) H994Q probably damaging Het
Ubash3b T G 9: 40,988,719 (GRCm39) K62T probably benign Het
Ushbp1 G T 8: 71,840,012 (GRCm39) D546E probably damaging Het
Zfp458 A C 13: 67,405,853 (GRCm39) C192W probably damaging Het
Zfp808 A T 13: 62,319,740 (GRCm39) H323L probably damaging Het
Other mutations in En2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02943:En2 APN 5 28,371,524 (GRCm39) utr 5 prime probably benign
R0928:En2 UTSW 5 28,375,329 (GRCm39) nonsense probably null
R2083:En2 UTSW 5 28,372,071 (GRCm39) missense probably damaging 0.98
R2356:En2 UTSW 5 28,371,330 (GRCm39) start gained probably benign
R2762:En2 UTSW 5 28,375,419 (GRCm39) missense probably damaging 0.99
R5470:En2 UTSW 5 28,371,922 (GRCm39) missense probably benign 0.03
R6762:En2 UTSW 5 28,375,351 (GRCm39) missense possibly damaging 0.65
R7640:En2 UTSW 5 28,375,164 (GRCm39) nonsense probably null
R7687:En2 UTSW 5 28,375,287 (GRCm39) missense probably damaging 1.00
R7827:En2 UTSW 5 28,371,594 (GRCm39) missense probably benign
R8409:En2 UTSW 5 28,371,882 (GRCm39) missense probably benign
R8861:En2 UTSW 5 28,371,733 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCGATAACATCCTGCGGC -3'
(R):5'- AATAGCGCGTGCAGTAGACC -3'

Sequencing Primer
(F):5'- ATAACATCCTGCGGCCTGAG -3'
(R):5'- TGCAGTAGACCCAAGCGG -3'
Posted On 2016-11-21