Incidental Mutation 'IGL03295:Edn2'
ID 416054
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 # IGL03295
Quality Score
Status
Chromosome 4
Chromosomal Location 120018403-120024557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120019178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 56 (C56S)
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
AlphaFold P22389
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: 99,390,915 (GRCm39) probably benign Het
Adamts5 T C 16: 85,674,833 (GRCm39) T444A probably damaging Het
Aldh18a1 T C 19: 40,551,386 (GRCm39) E522G probably damaging Het
Bbx T C 16: 50,044,927 (GRCm39) T437A probably damaging Het
Bsx A G 9: 40,785,743 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,977,769 (GRCm39) N729S probably benign Het
Cdk1 G T 10: 69,178,373 (GRCm39) H162Q possibly damaging Het
Chrac1 A G 15: 72,965,445 (GRCm39) probably benign Het
Cip2a T C 16: 48,814,704 (GRCm39) S22P probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Gm4952 T C 19: 12,595,691 (GRCm39) V27A probably benign Het
Herc1 T A 9: 66,303,985 (GRCm39) S763T possibly damaging Het
Hspd1 G A 1: 55,119,334 (GRCm39) T381I probably benign Het
Krt1c T A 15: 101,724,864 (GRCm39) I249F probably damaging Het
Lman2l T C 1: 36,477,892 (GRCm39) D148G probably damaging Het
Lrp1b C T 2: 40,568,999 (GRCm39) probably null Het
Mier3 C A 13: 111,840,215 (GRCm39) T51K probably benign Het
Ppp1r36 C T 12: 76,485,192 (GRCm39) P305L probably damaging Het
Pramel27 G A 4: 143,579,759 (GRCm39) C448Y probably damaging Het
Prdm1 T C 10: 44,315,866 (GRCm39) I790V probably damaging Het
Sephs2 T C 7: 126,871,941 (GRCm39) E384G possibly damaging Het
Sipa1l1 T A 12: 82,479,714 (GRCm39) W1466R probably damaging Het
Snai2 T C 16: 14,524,638 (GRCm39) L48P possibly damaging Het
Stt3a A G 9: 36,674,627 (GRCm39) probably null Het
Synj1 T A 16: 90,735,318 (GRCm39) N1545I probably benign Het
Vav2 A T 2: 27,165,041 (GRCm39) S607T possibly damaging Het
Wdr27 T C 17: 15,154,837 (GRCm39) K27E possibly damaging Het
Xcl1 A T 1: 164,763,004 (GRCm39) V19E unknown Het
Xlr3c A T X: 72,301,240 (GRCm39) probably null Het
Zbtb44 T A 9: 30,964,753 (GRCm39) D54E probably benign Het
Zscan21 A G 5: 138,123,540 (GRCm39) D73G possibly damaging Het
Other mutations in Edn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Edn2 APN 4 120,020,649 (GRCm39) missense probably damaging 1.00
IGL02243:Edn2 APN 4 120,019,229 (GRCm39) splice site probably null
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 2016-08-02