Incidental Mutation 'R0613:Edn2'
ID 54873
Institutional Source Beutler Lab
Gene Symbol Edn2
Ensembl Gene ENSMUSG00000028635
Gene Name endothelin 2
Synonyms VIC, vasoactive intestinal contractor peptide
MMRRC Submission 038802-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0613 (G1)
Quality Score 128
Status Validated
Chromosome 4
Chromosomal Location 120018403-120024557 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 120019061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030384]
AlphaFold P22389
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A T 8: 106,427,200 (GRCm39) probably null Het
Adcy9 A G 16: 4,237,403 (GRCm39) S3P probably damaging Het
Adgrl4 T C 3: 151,248,859 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,004 (GRCm39) E700G probably benign Het
Ahctf1 A G 1: 179,596,979 (GRCm39) S56P probably damaging Het
Atp12a T A 14: 56,611,978 (GRCm39) I384N probably damaging Het
Brca1 A T 11: 101,399,036 (GRCm39) S1519T probably benign Het
Ccl25 T C 8: 4,399,850 (GRCm39) V94A probably benign Het
Cep170 T C 1: 176,602,246 (GRCm39) T287A probably benign Het
Ces1a A G 8: 93,752,209 (GRCm39) S383P probably benign Het
Cntnap3 A T 13: 64,906,228 (GRCm39) F793I probably damaging Het
Ctsm T C 13: 61,687,496 (GRCm39) R89G probably damaging Het
Cyp2j12 T G 4: 95,990,316 (GRCm39) T417P probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Emc1 T A 4: 139,102,383 (GRCm39) probably benign Het
Entrep1 T A 19: 23,963,853 (GRCm39) N239Y probably damaging Het
Fras1 T C 5: 96,848,347 (GRCm39) probably benign Het
Fsip2 A T 2: 82,824,139 (GRCm39) D6624V probably damaging Het
Gpr107 A G 2: 31,068,297 (GRCm39) Y253C probably damaging Het
Gpr108 A G 17: 57,545,174 (GRCm39) probably benign Het
Grik1 A G 16: 87,848,221 (GRCm39) probably null Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Gucy2c A T 6: 136,737,721 (GRCm39) N293K probably damaging Het
Hps6 C A 19: 45,992,260 (GRCm39) P66T probably benign Het
Hspa9 A T 18: 35,081,033 (GRCm39) V216E probably damaging Het
Igsf8 T A 1: 172,145,156 (GRCm39) M224K probably benign Het
Igsf9b T C 9: 27,238,216 (GRCm39) V569A probably damaging Het
Itgb4 A T 11: 115,884,168 (GRCm39) I952F probably damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Khdrbs2 A G 1: 32,696,603 (GRCm39) H344R possibly damaging Het
Kmo C A 1: 175,465,458 (GRCm39) R71S probably damaging Het
Lrrc31 A G 3: 30,739,184 (GRCm39) probably benign Het
Map1b T A 13: 99,578,149 (GRCm39) D168V probably damaging Het
Mfsd6 T C 1: 52,697,855 (GRCm39) probably benign Het
Mgst1 G A 6: 138,133,243 (GRCm39) G186D probably damaging Het
Mrc1 C T 2: 14,299,630 (GRCm39) A740V probably damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtor T C 4: 148,610,503 (GRCm39) Y1605H possibly damaging Het
Ncoa4 T A 14: 31,898,509 (GRCm39) L443Q probably damaging Het
Nelfa G A 5: 34,060,807 (GRCm39) probably benign Het
Nepn T A 10: 52,277,353 (GRCm39) L363Q probably damaging Het
Nfat5 A G 8: 108,092,927 (GRCm39) T630A possibly damaging Het
Nipal4 A T 11: 46,041,211 (GRCm39) V328E probably benign Het
Or11h4b T A 14: 50,918,861 (GRCm39) I77F probably benign Het
Or2y1e T A 11: 49,218,575 (GRCm39) S112R possibly damaging Het
Or4c122 A T 2: 89,079,469 (GRCm39) C178S probably damaging Het
Or4d2b A T 11: 87,780,053 (GRCm39) V223E possibly damaging Het
Or6c76 T A 10: 129,612,131 (GRCm39) M116K probably damaging Het
Or8d2 T A 9: 38,759,909 (GRCm39) C166* probably null Het
Otogl A T 10: 107,652,931 (GRCm39) N1140K probably damaging Het
Ppip5k2 A C 1: 97,680,465 (GRCm39) Y236* probably null Het
Prelid1 C T 13: 55,472,156 (GRCm39) R111* probably null Het
Prpf8 T C 11: 75,394,270 (GRCm39) L1771P probably damaging Het
Ptprb A T 10: 116,138,230 (GRCm39) Y378F possibly damaging Het
Ptprb A G 10: 116,138,283 (GRCm39) T396A possibly damaging Het
Rab3il1 T C 19: 10,005,728 (GRCm39) L174P probably damaging Het
Rab4a T C 8: 124,550,574 (GRCm39) V18A possibly damaging Het
Scn3a T A 2: 65,302,628 (GRCm39) M1273L possibly damaging Het
Sdhc A T 1: 170,957,413 (GRCm39) V156E probably benign Het
Slco3a1 T C 7: 73,996,382 (GRCm39) probably benign Het
Syne3 T C 12: 104,924,371 (GRCm39) T343A probably benign Het
Syt11 A G 3: 88,669,776 (GRCm39) C39R probably damaging Het
Tll2 G T 19: 41,093,429 (GRCm39) D462E probably damaging Het
Tmem132e T A 11: 82,329,164 (GRCm39) V481D probably damaging Het
Tmem161b C T 13: 84,399,439 (GRCm39) L17F probably damaging Het
Vmn2r105 T A 17: 20,428,578 (GRCm39) I833F probably damaging Het
Vstm2a A T 11: 16,213,140 (GRCm39) N175I probably damaging Het
Xpnpep1 G T 19: 52,994,784 (GRCm39) D238E probably damaging Het
Zfp112 G A 7: 23,826,453 (GRCm39) G807D probably benign Het
Zfp518b A T 5: 38,830,946 (GRCm39) V353E probably damaging Het
Zfp69 T C 4: 120,791,544 (GRCm39) E39G probably benign Het
Zfp865 A G 7: 5,032,090 (GRCm39) H25R 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
IGL03295:Edn2 APN 4 120,019,178 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GGTGCTTCCTTCCCAAAACCAACTG -3'
(R):5'- TGCCTGACTCTAATAGCTCCCACG -3'

Sequencing Primer
(F):5'- AGGCCACAGTAGGAGCTACC -3'
(R):5'- CCTGAGATTCAGGGTGAGCAC -3'
Posted On 2013-07-11