Incidental Mutation 'R7500:Edn3'
ID 628219
Institutional Source Beutler Lab
Gene Symbol Edn3
Ensembl Gene ENSMUSG00000027524
Gene Name endothelin 3
Synonyms tmgc48, 114-CH19, 114CH19
MMRRC Submission 045573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7500 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 174602412-174625835 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 174621328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029030] [ENSMUST00000140908]
AlphaFold P48299
Predicted Effect probably benign
Transcript: ENSMUST00000029030
SMART Domains Protein: ENSMUSP00000029030
Gene: ENSMUSG00000027524

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
END 96 117 6.7e-6 SMART
END 158 179 1.53e-9 SMART
low complexity region 185 196 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000140908
SMART Domains Protein: ENSMUSP00000125602
Gene: ENSMUSG00000027524

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
END 52 73 6.7e-6 SMART
END 114 135 1.53e-9 SMART
low complexity region 137 148 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: This gene is a member of the endothelin family whose members encode proteins that act on G protein-coupled receptors. Endothelins are produced as large prepropolypeptide precursors that undergo a first cleavage by a subtilisin serine protease to form an inactive intermediate, which in turn is cleaved again by endothelin-converting enzyme 1 (ECE-1) to yield the active 21 amino acid peptide. This gene encodes a protein which is expressed in neural crest cells (NCC), binds to endothelin receptor b (Ednrb) and plays an essential role in the development of NCC-derived cell lineages including melanocytes and enteric neurons. Mutations in this gene are associated with terminal aganglionosis and white spotted coat in mice and Hirschsprung's disease and Waardenburg syndrome in humans. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a A G 9: 119,173,564 (GRCm39) M146V probably benign Het
Adcy1 C T 11: 7,094,762 (GRCm39) R563C probably damaging Het
Ambn A T 5: 88,609,493 (GRCm39) Y67F possibly damaging Het
Ankrd42 T A 7: 92,241,080 (GRCm39) E426D probably benign Het
Ankzf1 A G 1: 75,174,623 (GRCm39) T538A probably benign Het
Arhgap20 A G 9: 51,751,802 (GRCm39) I418V probably benign Het
Arhgef28 A G 13: 98,115,003 (GRCm39) Y616H probably benign Het
B4galt4 T C 16: 38,588,376 (GRCm39) F340S probably damaging Het
Bmp1 C T 14: 70,727,562 (GRCm39) E674K probably benign Het
Ccr9 T A 9: 123,608,534 (GRCm39) V72D probably damaging Het
Chd2 T A 7: 73,101,556 (GRCm39) K1390I probably damaging Het
Col5a3 C T 9: 20,711,585 (GRCm39) R513Q unknown Het
Cracd A G 5: 76,805,905 (GRCm39) R126G unknown Het
Cttnbp2 G T 6: 18,378,419 (GRCm39) N1472K probably benign Het
Eps15l1 A G 8: 73,136,634 (GRCm39) F331L probably damaging Het
Gm45337 CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC CACAGCCTCC 7: 141,698,021 (GRCm39) probably benign Het
Lrrc56 A G 7: 140,789,443 (GRCm39) S487G probably benign Het
Moxd2 A G 6: 40,868,746 (GRCm39) T93A probably benign Het
Ngp G T 9: 110,248,833 (GRCm39) probably null Het
Npr2 T C 4: 43,650,415 (GRCm39) V970A probably damaging Het
Or4a79 T C 2: 89,552,281 (GRCm39) Y58C possibly damaging Het
Or5an10 T C 19: 12,276,041 (GRCm39) S152G probably damaging Het
Or8b9 T C 9: 37,766,314 (GRCm39) S67P probably damaging Het
Or8g28 T G 9: 39,169,762 (GRCm39) I69L probably benign Het
Pacc1 A G 1: 191,078,910 (GRCm39) probably null Het
Pdf A T 8: 107,773,781 (GRCm39) F221I probably damaging Het
Plekhn1 A C 4: 156,317,771 (GRCm39) S205R probably benign Het
Ppp6r1 G A 7: 4,639,129 (GRCm39) A606V probably benign Het
Prpf38b C T 3: 108,812,446 (GRCm39) V256I probably benign Het
Rbbp5 T A 1: 132,421,879 (GRCm39) H291Q probably benign Het
Rnf169 T C 7: 99,629,445 (GRCm39) E66G probably damaging Het
Rp1 T A 1: 4,381,501 (GRCm39) N328Y unknown Het
Skint5 A T 4: 113,417,035 (GRCm39) V1138E unknown Het
Slc27a4 T C 2: 29,702,717 (GRCm39) V539A probably damaging Het
Smo G T 6: 29,755,534 (GRCm39) R402L probably benign Het
Srgap2 A T 1: 131,364,569 (GRCm39) L4Q probably damaging Het
Tbxas1 A T 6: 38,959,146 (GRCm39) R110* probably null Het
Thoc7 A C 14: 13,951,204 (GRCm38) probably null Het
Tmub1 G A 5: 24,652,507 (GRCm39) probably benign Het
Tnrc6a A G 7: 122,772,673 (GRCm39) probably null Het
Traj19 T A 14: 54,437,860 (GRCm39) H6Q unknown Het
Trim30c T C 7: 104,036,758 (GRCm39) E200G probably benign Het
Ubqlnl A T 7: 103,798,048 (GRCm39) I483N probably damaging Het
Usp25 G T 16: 76,874,089 (GRCm39) R555L probably damaging Het
Vgll4 A G 6: 114,839,293 (GRCm39) S233P probably damaging Het
Vps13b G A 15: 35,910,670 (GRCm39) C3478Y possibly damaging Het
Vwa8 T A 14: 79,162,686 (GRCm39) probably null Het
Zfp977 A G 7: 42,229,629 (GRCm39) Y299H probably damaging Het
Zmynd11 T A 13: 9,785,434 (GRCm39) H17L probably benign Het
Other mutations in Edn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0410:Edn3 UTSW 2 174,603,482 (GRCm39) missense possibly damaging 0.58
R0540:Edn3 UTSW 2 174,602,767 (GRCm39) missense probably damaging 1.00
R1900:Edn3 UTSW 2 174,603,398 (GRCm39) missense possibly damaging 0.48
R2017:Edn3 UTSW 2 174,620,455 (GRCm39) missense probably benign 0.00
R4571:Edn3 UTSW 2 174,623,697 (GRCm39) missense probably benign 0.04
R4891:Edn3 UTSW 2 174,603,525 (GRCm39) missense probably benign 0.11
R5218:Edn3 UTSW 2 174,603,345 (GRCm39) missense probably benign 0.09
R6008:Edn3 UTSW 2 174,621,525 (GRCm39) missense probably benign 0.00
R7447:Edn3 UTSW 2 174,603,544 (GRCm39) nonsense probably null
R9205:Edn3 UTSW 2 174,603,482 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- GCTTGAAGATCAATCTGAGTAGGG -3'
(R):5'- TCTTCACCTTTGACGTGGGC -3'

Sequencing Primer
(F):5'- ATCAATCTGAGTAGGGTGGGCC -3'
(R):5'- TTTGACGTGGGCCTCCAGTC -3'
Posted On 2020-02-11