Incidental Mutation 'R1378:Edn2'
ID 162933
Institutional Source Beutler Lab
Gene Symbol Edn2
Ensembl Gene ENSMUSG00000028635
Gene Name endothelin 2
Synonyms VIC, vasoactive intestinal contractor peptide
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1378 (G1)
Quality Score 166
Status Validated
Chromosome 4
Chromosomal Location 120018403-120024557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120019095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 28 (E28G)
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
AlphaFold P22389
Predicted Effect probably benign
Transcript: ENSMUST00000030384
AA Change: E28G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030384
Gene: ENSMUSG00000028635
AA Change: E28G

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
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A G 5: 36,126,030 (GRCm39) T342A probably damaging Het
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccdc153 C G 9: 44,154,958 (GRCm39) L94V probably null Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Cenpb C T 2: 131,020,230 (GRCm39) probably benign Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nell2 A T 15: 95,130,402 (GRCm39) V657E probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vps35l G T 7: 118,393,795 (GRCm39) E515* probably null Het
Vps35l A T 7: 118,393,796 (GRCm39) E515V probably damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K probably benign 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
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
R7272:Edn2 UTSW 4 120,019,143 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCAGTGGTTCCTGAACACCAAG -3'
(R):5'- AGCCCTCTGCCTGACTCTAATAGC -3'

Sequencing Primer
(F):5'- AAGGGTGCCAACTTCCTTATTG -3'
(R):5'- CCTGAGATTCAGGGTGAGCAC -3'
Posted On 2014-03-17