Incidental Mutation 'IGL03295:Edn2'
ID416054
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 #IGL03295
Quality Score
Status
Chromosome4
Chromosomal Location120161206-120167360 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120161981 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 56 (C56S)
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
Predicted Effect probably damaging
Transcript: ENSMUST00000030384
AA Change: C56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030384
Gene: ENSMUSG00000028635
AA Change: C56S

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,056 probably benign Het
Adamts5 T C 16: 85,877,945 T444A probably damaging Het
Aldh18a1 T C 19: 40,562,942 E522G probably damaging Het
Bbx T C 16: 50,224,564 T437A probably damaging Het
Bsx A G 9: 40,874,447 probably benign Het
C330027C09Rik T C 16: 48,994,341 S22P probably damaging Het
Cdc42bpa A G 1: 180,150,204 N729S probably benign Het
Cdk1 G T 10: 69,342,543 H162Q possibly damaging Het
Chrac1 A G 15: 73,093,596 probably benign Het
Ddx60 A T 8: 61,956,121 D397V possibly damaging Het
Gm13103 G A 4: 143,853,189 C448Y probably damaging Het
Gm4952 T C 19: 12,618,327 V27A probably benign Het
Herc1 T A 9: 66,396,703 S763T possibly damaging Het
Hspd1 G A 1: 55,080,175 T381I probably benign Het
Krt2 T A 15: 101,816,429 I249F probably damaging Het
Lman2l T C 1: 36,438,811 D148G probably damaging Het
Lrp1b C T 2: 40,678,987 probably null Het
Mier3 C A 13: 111,703,681 T51K probably benign Het
Ppp1r36 C T 12: 76,438,418 P305L probably damaging Het
Prdm1 T C 10: 44,439,870 I790V probably damaging Het
Sephs2 T C 7: 127,272,769 E384G possibly damaging Het
Sipa1l1 T A 12: 82,432,940 W1466R probably damaging Het
Snai2 T C 16: 14,706,774 L48P possibly damaging Het
Stt3a A G 9: 36,763,331 probably null Het
Synj1 T A 16: 90,938,430 N1545I probably benign Het
Vav2 A T 2: 27,275,029 S607T possibly damaging Het
Wdr27 T C 17: 14,934,575 K27E possibly damaging Het
Xcl1 A T 1: 164,935,435 V19E unknown Het
Xlr3c A T X: 73,257,634 probably null Het
Zbtb44 T A 9: 31,053,457 D54E probably benign Het
Zscan21 A G 5: 138,125,278 D73G possibly damaging Het
Other mutations in Edn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Edn2 APN 4 120163452 missense probably damaging 1.00
IGL02243:Edn2 APN 4 120162032 splice site probably null
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 On2016-08-02