Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00690:Edn2'

10444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edn2

Ensembl Gene

ENSMUSG00000028635

Gene Name

endothelin 2

Synonyms

VIC, vasoactive intestinal contractor peptide

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00690

Quality Score

Status

Chromosome

Chromosomal Location

120018403-120024557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120020649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 92 (R92H)

Ref Sequence

ENSEMBL: ENSMUSP00000030384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030384]

AlphaFold

P22389

Predicted Effect

probably damaging
Transcript: ENSMUST00000030384
AA Change: R92H

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

SMART Domains

Protein: ENSMUSP00000030384
Gene: ENSMUSG00000028635
AA Change: R92H

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
END	45	66	1.5e-8	SMART
low complexity region	81	87	N/A	INTRINSIC
END	92	113	1.49e-3	SMART
low complexity region	115	127	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a potent vasoconstrictive peptide. This gene is abundantly expressed in the gastrointestinal tract, strongly induced in photorecepteror cells in retinal diseases and injury, and produced by microglia and macrophages in the early stages of glaucoma. Mice lacking the encoded protein exhibit severe growth retardation, hypothermia and juvenile lethality. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, hypothermia, hypoxemic hypoxia, hypercapnia, emphysema and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,078,336 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,571,151 (GRCm39)	V1164A	probably damaging	Het
Arhgef9	C	T	X: 94,125,285 (GRCm39)	C177Y	probably damaging	Het
Ascc3	C	T	10: 50,576,039 (GRCm39)	Q765*	probably null	Het
Brwd1	A	G	16: 95,818,786 (GRCm39)	Y1349H	probably damaging	Het
Cep57	A	T	9: 13,730,312 (GRCm39)	N48K	probably damaging	Het
Crlf3	A	G	11: 79,950,163 (GRCm39)	S156P	probably damaging	Het
Eml2	T	A	7: 18,940,068 (GRCm39)	W647R	probably damaging	Het
Gcm1	A	T	9: 77,972,298 (GRCm39)	D413V	probably benign	Het
Med1	A	C	11: 98,060,226 (GRCm39)	D234E	possibly damaging	Het
Nfatc4	T	C	14: 56,070,019 (GRCm39)	F729S	probably damaging	Het
Pcbd1	T	C	10: 60,928,469 (GRCm39)		probably benign	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Serpina3c	A	T	12: 104,118,198 (GRCm39)	L47M	possibly damaging	Het
Strn3	T	C	12: 51,657,221 (GRCm39)	I631V	possibly damaging	Het
Trp53bp1	A	G	2: 121,066,476 (GRCm39)	I750T	probably damaging	Het

Other mutations in Edn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02243:Edn2	APN	4	120,019,229 (GRCm39)	splice site	probably null
IGL03295:Edn2	APN	4	120,019,178 (GRCm39)	missense	probably damaging	1.00
R0613:Edn2	UTSW	4	120,019,061 (GRCm39)	splice site	probably null
R1378:Edn2	UTSW	4	120,019,095 (GRCm39)	missense	probably benign	0.01
R7272:Edn2	UTSW	4	120,019,143 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06