Mutagenetix > Incidental Mutations

Incidental Mutation 'R2356:En2'

266134

Institutional Source

Beutler Lab

Gene Symbol

En2

Ensembl Gene

ENSMUSG00000039095

Gene Name

engrailed 2

Synonyms

En-2

MMRRC Submission

040338-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

R2356 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

28165694-28172166 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 28166332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036177]

AlphaFold

P09066

Predicted Effect

probably benign
Transcript: ENSMUST00000036177

SMART Domains

Protein: ENSMUSP00000036761
Gene: ENSMUSG00000039095

Domain	Start	End	E-Value	Type
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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,955	V4407A	possibly damaging	Het
Abcf3	G	T	16: 20,560,499	R705L	probably benign	Het
Adcy6	A	T	15: 98,597,016		probably null	Het
Ank1	A	T	8: 23,085,672	T145S	probably damaging	Het
Aph1a	T	C	3: 95,894,232	F21S	probably benign	Het
Apoa5	T	A	9: 46,270,043	V139E	probably damaging	Het
Arhgap44	T	C	11: 65,010,025	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,519,147	P967L	probably benign	Het
Atp13a5	A	T	16: 29,281,069	I683N	probably damaging	Het
Cdc6	A	G	11: 98,919,292	T476A	probably benign	Het
Cdk10	T	C	8: 123,229,169	V199A	probably damaging	Het
Ces2h	G	A	8: 105,015,938	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,291,625	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,589,514	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,937,749	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,652,381	S276A	probably benign	Het
Dlg5	A	G	14: 24,170,428		probably null	Het
Dnaaf1	T	A	8: 119,588,287	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,198,218	F23S	probably benign	Het
Erbb4	T	A	1: 68,078,596	M887L	probably benign	Het
Exoc5	T	C	14: 49,016,281	M482V	probably benign	Het
Foxk1	A	G	5: 142,455,409	I571V	possibly damaging	Het
Fry	G	A	5: 150,471,432	G650D	probably benign	Het
Gm8225	T	C	17: 26,543,404	S190P	probably damaging	Het
Gm9573	A	G	17: 35,621,671		probably benign	Het
Gpx5	G	C	13: 21,291,368	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,406,817	S285T	probably benign	Het
Itga8	T	C	2: 12,200,141	H495R	probably benign	Het
Klf11	T	C	12: 24,653,583	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,487,901	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,487,902	Y2*	probably null	Het
Lama1	T	A	17: 67,810,114	L2468Q	probably damaging	Het
Lmo7	T	C	14: 101,886,945	L280S	probably damaging	Het
Matk	G	A	10: 81,261,543		probably null	Het
Mcmdc2	A	G	1: 9,930,801	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,917,870	L1283Q	probably damaging	Het
Nbn	T	A	4: 15,970,863	I282N	probably damaging	Het
Ncln	A	G	10: 81,492,922	V174A	probably benign	Het
Nipa2	G	A	7: 55,932,966	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306		noncoding transcript	Het
Olfr657	G	T	7: 104,636,627	E318*	probably null	Het
Olfr768	T	C	10: 129,093,892	I27M	probably benign	Het
Pik3r5	T	C	11: 68,492,917	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,533,019	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,222,701	D464A	probably damaging	Het
Ppp4r1	T	A	17: 65,833,050	Y648N	probably damaging	Het
Prkaa2	C	T	4: 105,039,721		probably null	Het
Prkdc	T	A	16: 15,684,204	H828Q	probably benign	Het
Prss40	A	T	1: 34,559,903	Y69*	probably null	Het
Prx	C	T	7: 27,507,859		probably benign	Het
Psmd11	T	A	11: 80,428,704	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,800,007	H287L	probably benign	Het
Rcor1	T	C	12: 111,109,792	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,591,576	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,217,367	E163*	probably null	Het
Setd4	G	A	16: 93,590,983	T205I	probably damaging	Het
Shroom1	A	T	11: 53,466,447	T646S	probably benign	Het
Smg8	G	C	11: 87,085,728	S342R	probably benign	Het
Trhde	T	C	10: 114,401,516	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,518,628	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 22,883,950	L71*	probably null	Het
Wnk2	A	T	13: 49,039,168	C2032*	probably null	Het
Zfp429	A	G	13: 67,390,627	Y233H	probably benign	Het
Zfp809	C	A	9: 22,243,040	T351K	probably benign	Het

Other mutations in En2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02943:En2	APN	5	28166526	utr 5 prime	probably benign
R0928:En2	UTSW	5	28170331	nonsense	probably null
R2083:En2	UTSW	5	28167073	missense	probably damaging	0.98
R2762:En2	UTSW	5	28170421	missense	probably damaging	0.99
R5470:En2	UTSW	5	28166924	missense	probably benign	0.03
R5760:En2	UTSW	5	28166999	missense	probably benign	0.41
R6762:En2	UTSW	5	28170353	missense	possibly damaging	0.65
R7640:En2	UTSW	5	28170166	nonsense	probably null
R7687:En2	UTSW	5	28170289	missense	probably damaging	1.00
R7827:En2	UTSW	5	28166596	missense	probably benign
R8409:En2	UTSW	5	28166884	missense	probably benign
R8861:En2	UTSW	5	28166735	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-05