Mutagenetix > Incidental Mutation

Incidental Mutation 'R5884:Emx2'

454596

Institutional Source

Beutler Lab

Gene Symbol

Emx2

Ensembl Gene

ENSMUSG00000043969

Gene Name

empty spiracles homeobox 2

Synonyms

Pdo

MMRRC Submission

044087-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59447122-59453789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59452461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 248 (D248E)

Ref Sequence

ENSEMBL: ENSMUSP00000053361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062216] [ENSMUST00000174353]

AlphaFold

Q04744

Predicted Effect

probably damaging
Transcript: ENSMUST00000062216
AA Change: D248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053361
Gene: ENSMUSG00000043969
AA Change: D248E

Domain	Start	End	E-Value	Type
low complexity region	76	109	N/A	INTRINSIC
HOX	155	217	1.32e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174573

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.6%
20x: 82.8%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp5	T	C	9: 75,805,836 (GRCm39)	M446T	probably damaging	Het
Cacna1g	C	T	11: 94,328,693 (GRCm39)	A1052T	probably damaging	Het
Cand1	C	T	10: 119,049,670 (GRCm39)	A359T	possibly damaging	Het
Ccne2	A	T	4: 11,199,411 (GRCm39)	T271S	probably benign	Het
Cep112	A	G	11: 108,461,142 (GRCm39)	T546A	probably damaging	Het
Ces1g	A	G	8: 94,033,558 (GRCm39)	S455P	probably benign	Het
Dnah11	A	T	12: 118,141,269 (GRCm39)	C496S	probably benign	Het
Dtx3l	C	G	16: 35,752,603 (GRCm39)	E668Q	probably benign	Het
Dysf	T	A	6: 84,163,063 (GRCm39)	F1579I	probably damaging	Het
Eri2	A	C	7: 119,371,552 (GRCm39)	*275E	probably null	Het
F5	G	A	1: 164,023,215 (GRCm39)	R1591H	probably benign	Het
Fabp3	A	G	4: 130,206,131 (GRCm39)	T41A	probably benign	Het
Fam89a	C	T	8: 125,478,508 (GRCm39)	R14H	probably damaging	Het
Gbe1	T	A	16: 70,325,763 (GRCm39)		probably null	Het
Golga3	A	G	5: 110,364,761 (GRCm39)	E1211G	probably damaging	Het
Gpa33	T	C	1: 165,980,329 (GRCm39)	S131P	probably damaging	Het
Hyal6	T	C	6: 24,743,368 (GRCm39)	Y355H	probably damaging	Het
Ide	A	T	19: 37,249,552 (GRCm39)		probably null	Het
Ighv5-21	A	T	12: 114,283,806 (GRCm39)		probably benign	Het
Iglc1	A	T	16: 18,880,741 (GRCm39)		probably benign	Het
Impa1	A	T	3: 10,381,284 (GRCm39)	N199K	probably damaging	Het
Irx5	A	C	8: 93,087,258 (GRCm39)	T397P	possibly damaging	Het
Lonp2	A	G	8: 87,368,254 (GRCm39)	Y356C	probably damaging	Het
Matn4	A	T	2: 164,246,528 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nav2	T	A	7: 49,246,917 (GRCm39)	Y2147*	probably null	Het
Nek5	C	T	8: 22,578,817 (GRCm39)		probably null	Het
Omt2b	A	G	9: 78,235,839 (GRCm39)	M55V	probably benign	Het
Or5d37	A	G	2: 87,924,140 (GRCm39)	Y47H	probably damaging	Het
Or6z1	C	A	7: 6,504,842 (GRCm39)	V128L	probably benign	Het
Or9g8	T	A	2: 85,607,399 (GRCm39)	I157K	probably damaging	Het
Parp4	T	A	14: 56,852,207 (GRCm39)	H796Q	probably damaging	Het
Pex2	T	C	3: 5,626,359 (GRCm39)	E150G	probably benign	Het
Poglut2	T	C	1: 44,156,260 (GRCm39)	N109S	probably benign	Het
Psmb2	T	A	4: 126,578,014 (GRCm39)	V64E	possibly damaging	Het
Psmd6	C	T	14: 14,116,526 (GRCm38)	R63H	probably damaging	Het
Ptprd	A	G	4: 75,900,927 (GRCm39)	Y1061H	probably damaging	Het
Rab23	A	G	1: 33,763,967 (GRCm39)		probably benign	Het
Rad51ap2	GAAAAGGAAACTATTTAAAA	GAAAA	12: 11,507,534 (GRCm39)		probably benign	Het
Reg1	C	T	6: 78,405,200 (GRCm39)	S141L	possibly damaging	Het
Rock1	A	T	18: 10,099,361 (GRCm39)	I680K	probably benign	Het
Sez6l2	A	G	7: 126,569,328 (GRCm39)		probably benign	Het
Slc34a2	A	T	5: 53,226,722 (GRCm39)	Q615L	possibly damaging	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Tctn2	A	T	5: 124,741,895 (GRCm39)		noncoding transcript	Het
Tmem87a	T	A	2: 120,234,605 (GRCm39)		probably benign	Het
Trappc4	A	G	9: 44,315,385 (GRCm39)	F198L	probably damaging	Het
Usp33	C	T	3: 152,073,967 (GRCm39)	T271I	probably benign	Het
Vmn1r15	T	A	6: 57,235,993 (GRCm39)	I287K	probably damaging	Het
Vmn2r75	A	C	7: 85,814,578 (GRCm39)	I305R	probably benign	Het
Wdr26	T	C	1: 181,015,106 (GRCm39)		probably benign	Het
Zzz3	T	C	3: 152,156,295 (GRCm39)	S684P	probably damaging	Het

Other mutations in Emx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01966:Emx2	APN	19	59,448,021 (GRCm39)	missense	possibly damaging	0.83
IGL02103:Emx2	APN	19	59,450,130 (GRCm39)	missense	probably benign	0.22
R0446:Emx2	UTSW	19	59,452,348 (GRCm39)	nonsense	probably null
R0631:Emx2	UTSW	19	59,452,460 (GRCm39)	missense	probably damaging	1.00
R1194:Emx2	UTSW	19	59,447,984 (GRCm39)	nonsense	probably null
R1512:Emx2	UTSW	19	59,448,035 (GRCm39)	missense	possibly damaging	0.95
R1526:Emx2	UTSW	19	59,452,442 (GRCm39)	missense	probably benign	0.05
R2019:Emx2	UTSW	19	59,447,771 (GRCm39)	missense	probably benign
R2066:Emx2	UTSW	19	59,450,130 (GRCm39)	missense	probably benign	0.01
R2133:Emx2	UTSW	19	59,452,465 (GRCm39)	missense	probably damaging	0.99
R4977:Emx2	UTSW	19	59,447,678 (GRCm39)	missense	probably damaging	1.00
R8823:Emx2	UTSW	19	59,447,880 (GRCm39)	missense	probably damaging	1.00
R9644:Emx2	UTSW	19	59,452,427 (GRCm39)	missense	probably benign	0.20
R9799:Emx2	UTSW	19	59,448,036 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTGACAGGCCTCTGGTATATGATAG -3'
(R):5'- TGTCCAAAGTCTGCTGCGAG -3'

Sequencing Primer
(F):5'- GGATCTAAAGATGCCCACTTGTC -3'
(R):5'- GAGCGTCACTGCTCTGATTC -3'

Posted On

2017-02-10