Incidental Mutation 'R7272:Edn2'
ID 565344
Institutional Source Beutler Lab
Gene Symbol Edn2
Ensembl Gene ENSMUSG00000028635
Gene Name endothelin 2
Synonyms VIC, vasoactive intestinal contractor peptide
MMRRC Submission 045391-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7272 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 120018403-120024557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120019143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 44 (R44H)
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
AlphaFold P22389
Predicted Effect probably damaging
Transcript: ENSMUST00000030384
AA Change: R44H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030384
Gene: ENSMUSG00000028635
AA Change: R44H

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,655 (GRCm39) I1020T probably benign Het
2310057N15Rik A T 16: 88,570,523 (GRCm39) Y172* probably null Het
4930558K02Rik T A 1: 161,770,092 (GRCm39) Y139F possibly damaging Het
A830018L16Rik T G 1: 11,658,695 (GRCm39) M202R probably damaging Het
Abca12 T C 1: 71,287,591 (GRCm39) E2450G probably damaging Het
Ank2 C T 3: 126,736,782 (GRCm39) R3034H unknown Het
Anxa9 A G 3: 95,213,184 (GRCm39) I54T probably damaging Het
Ash1l A G 3: 88,961,941 (GRCm39) probably null Het
Aspm T C 1: 139,386,066 (GRCm39) I570T probably benign Het
Bcar3 A T 3: 122,302,045 (GRCm39) I247F possibly damaging Het
Cep350 A G 1: 155,829,334 (GRCm39) V130A probably damaging Het
Cep89 A T 7: 35,137,888 (GRCm39) R757S probably benign Het
Cryga A T 1: 65,142,381 (GRCm39) I4N probably damaging Het
Cyp2d26 T A 15: 82,676,764 (GRCm39) Y194F probably benign Het
Ep400 G A 5: 110,903,511 (GRCm39) Q363* probably null Het
Gpr33 T C 12: 52,070,848 (GRCm39) T64A probably damaging Het
Ice2 T A 9: 69,324,365 (GRCm39) S763T possibly damaging Het
Itgad C A 7: 127,804,245 (GRCm39) F1169L probably damaging Het
Kcnv1 A G 15: 44,976,576 (GRCm39) L237P probably benign Het
Kctd18 T C 1: 57,995,710 (GRCm39) E356G probably damaging Het
Krt33a C T 11: 99,902,837 (GRCm39) R329Q probably damaging Het
Lama2 C A 10: 27,000,552 (GRCm39) G1657C probably damaging Het
Marchf3 T G 18: 56,895,593 (GRCm39) R217S probably benign Het
Mmel1 A T 4: 154,978,547 (GRCm39) T660S probably damaging Het
Ms4a7 T A 19: 11,310,642 (GRCm39) K59* probably null Het
Mss51 G A 14: 20,534,981 (GRCm39) T263I probably damaging Het
Ncaph2 A G 15: 89,248,385 (GRCm39) M199V probably benign Het
Ndufa4 G A 6: 11,905,209 (GRCm39) Q62* probably null Het
Nectin4 A G 1: 171,214,212 (GRCm39) T456A probably damaging Het
Nek1 T C 8: 61,578,120 (GRCm39) M1214T probably benign Het
Nsf T A 11: 103,718,064 (GRCm39) L710F probably damaging Het
Nynrin G T 14: 56,107,872 (GRCm39) G993V probably damaging Het
Or1e31 T A 11: 73,689,695 (GRCm39) D296V probably damaging Het
Pbk T A 14: 66,052,621 (GRCm39) Y155N probably damaging Het
Plec T C 15: 76,059,153 (GRCm39) I3595V possibly damaging Het
Pom121 G A 5: 135,409,941 (GRCm39) T1072I unknown Het
Sdc1 T A 12: 8,840,554 (GRCm39) H106Q probably benign Het
Slc44a3 T C 3: 121,254,764 (GRCm39) D618G probably damaging Het
Slc9c1 A G 16: 45,401,878 (GRCm39) D755G possibly damaging Het
Slfn9 T C 11: 82,872,387 (GRCm39) Y783C probably benign Het
Sorl1 C T 9: 41,975,006 (GRCm39) probably null Het
Spindoc C T 19: 7,360,085 (GRCm39) E28K possibly damaging Het
Sptbn1 T C 11: 30,064,859 (GRCm39) D1880G possibly damaging Het
Sspn T A 6: 145,907,200 (GRCm39) D210E probably benign Het
Stx12 A T 4: 132,584,687 (GRCm39) I219K possibly damaging Het
Syne2 T C 12: 76,095,417 (GRCm39) V508A probably benign Het
Tkt G T 14: 30,287,564 (GRCm39) R186L probably damaging Het
Trmt10a T A 3: 137,860,527 (GRCm39) M241K probably damaging Het
Vgll2 C A 10: 51,903,758 (GRCm39) A207E possibly damaging Het
Vmn1r114 A G 7: 20,545,543 (GRCm39) F190S probably damaging Het
Xpot C T 10: 121,453,094 (GRCm39) probably null Het
Yrdc G A 4: 124,744,820 (GRCm39) A85T probably benign Het
Zfp385c C T 11: 100,520,865 (GRCm39) R265K possibly damaging Het
Zgrf1 A T 3: 127,392,409 (GRCm39) I1310F probably 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
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
R1378:Edn2 UTSW 4 120,019,095 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCTTATTGTGCAAGAGGAGG -3'
(R):5'- CTCCCACGTGGAAGTTGATG -3'

Sequencing Primer
(F):5'- TTATTGTGCAAGAGGAGGAGCCC -3'
(R):5'- AGTAGTTACTATGGATCCTCTCCCAG -3'
Posted On 2019-06-26