Incidental Mutation 'IGL00690:Edn2'
ID10444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edn2
Ensembl Gene ENSMUSG00000028635
Gene Nameendothelin 2
SynonymsVIC, vasoactive intestinal contractor peptide
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00690
Quality Score
Status
Chromosome4
Chromosomal Location120161206-120167360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120163452 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 92 (R92H)
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,150,606 probably benign Het
Adcy8 A G 15: 64,699,302 V1164A probably damaging Het
Arhgef9 C T X: 95,081,679 C177Y probably damaging Het
Ascc3 C T 10: 50,699,943 Q765* probably null Het
Brwd1 A G 16: 96,017,586 Y1349H probably damaging Het
Cep57 A T 9: 13,819,016 N48K probably damaging Het
Crlf3 A G 11: 80,059,337 S156P probably damaging Het
Eml2 T A 7: 19,206,143 W647R probably damaging Het
Gcm1 A T 9: 78,065,016 D413V probably benign Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Med1 A C 11: 98,169,400 D234E possibly damaging Het
Nfatc4 T C 14: 55,832,562 F729S probably damaging Het
Pcbd1 T C 10: 61,092,690 probably benign Het
Serpina3c A T 12: 104,151,939 L47M possibly damaging Het
Strn3 T C 12: 51,610,438 I631V possibly damaging Het
Trp53bp1 A G 2: 121,235,995 I750T probably damaging Het
Other mutations in Edn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Edn2 APN 4 120162032 splice site probably null
IGL03295:Edn2 APN 4 120161981 missense probably damaging 1.00
R0613:Edn2 UTSW 4 120161864 splice site probably null
R1378:Edn2 UTSW 4 120161898 missense probably benign 0.01
R7272:Edn2 UTSW 4 120161946 missense probably damaging 1.00
Posted On2012-12-06