Incidental Mutation 'IGL02243:Edn2'
ID286076
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 #IGL02243
Quality Score
Status
Chromosome4
Chromosomal Location120161206-120167360 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 120162032 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
Predicted Effect probably null
Transcript: ENSMUST00000030384
SMART Domains Protein: ENSMUSP00000030384
Gene: ENSMUSG00000028635

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,302,341 Y87C probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Brsk2 T C 7: 141,993,299 F493S probably damaging Het
Cd19 T C 7: 126,410,793 probably null Het
Chd2 T C 7: 73,497,708 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ddx19a T G 8: 110,976,456 I450L probably benign Het
Elp2 G A 18: 24,622,606 R470Q probably benign Het
Fhdc1 T G 3: 84,474,640 M1L possibly damaging Het
Gba2 A T 4: 43,568,719 I619N probably benign Het
Glce A G 9: 62,070,140 F154S probably damaging Het
Gm3476 A T 14: 6,122,811 C195* probably null Het
Hsp90aa1 A G 12: 110,695,091 S164P probably damaging Het
Iqcg T C 16: 33,045,592 D127G probably damaging Het
Jag2 G A 12: 112,916,345 T381I possibly damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lhx2 T A 2: 38,353,519 probably benign Het
Lrrc2 A T 9: 110,970,057 N158I probably damaging Het
M1ap C T 6: 83,026,288 P389S probably damaging Het
Maats1 T C 16: 38,341,780 probably benign Het
Masp2 A T 4: 148,603,068 D104V probably benign Het
Met G A 6: 17,549,094 V982I probably damaging Het
Msh2 T A 17: 87,678,368 probably benign Het
Myh9 A G 15: 77,767,482 L1509P probably damaging Het
Mylk2 A G 2: 152,920,553 H554R probably damaging Het
Oxr1 T G 15: 41,535,701 probably benign Het
Pdp1 A T 4: 11,961,873 V146D probably benign Het
Pdzrn4 A T 15: 92,770,696 M910L probably benign Het
Prl2a1 T C 13: 27,807,417 probably benign Het
Rapgef6 C T 11: 54,676,400 P1136S probably damaging Het
Rasgef1c A T 11: 49,957,390 S69C possibly damaging Het
Rnaseh1 C T 12: 28,655,632 R152W probably damaging Het
Sele T C 1: 164,052,968 V373A probably benign Het
Tmem67 G A 4: 12,070,584 S314L possibly damaging Het
Traf4 T C 11: 78,160,517 E271G probably benign Het
Trim39 T C 17: 36,260,384 D494G probably damaging Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Other mutations in Edn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Edn2 APN 4 120163452 missense probably damaging 1.00
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 On2015-04-16