Incidental Mutation 'R0410:Edn3'
ID 36555
Institutional Source Beutler Lab
Gene Symbol Edn3
Ensembl Gene ENSMUSG00000027524
Gene Name endothelin 3
Synonyms tmgc48, 114-CH19, 114CH19
MMRRC Submission 038612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0410 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 174602412-174625835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 174603482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 77 (P77S)
Ref Sequence ENSEMBL: ENSMUSP00000029030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029030] [ENSMUST00000140908]
AlphaFold P48299
Predicted Effect possibly damaging
Transcript: ENSMUST00000029030
AA Change: P77S

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029030
Gene: ENSMUSG00000027524
AA Change: P77S

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 noncoding transcript
Transcript: ENSMUST00000137369
Predicted Effect probably benign
Transcript: ENSMUST00000140908
AA Change: P33S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125602
Gene: ENSMUSG00000027524
AA Change: P33S

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,268 (GRCm39) D170G probably benign Het
Actrt3 C T 3: 30,652,273 (GRCm39) G274S probably benign Het
Adamts18 G T 8: 114,440,990 (GRCm39) C889* probably null Het
Alkbh6 C T 7: 30,012,031 (GRCm39) P104S probably damaging Het
Alms1 A T 6: 85,564,785 (GRCm39) E53V unknown Het
Ap3s1 T C 18: 46,912,279 (GRCm39) C100R probably benign Het
Apbb2 G T 5: 66,609,149 (GRCm39) A166E possibly damaging Het
Asph A G 4: 9,595,415 (GRCm39) V174A probably damaging Het
Cacna2d2 T C 9: 107,401,819 (GRCm39) L758P probably damaging Het
Cacng5 A G 11: 107,768,195 (GRCm39) S271P possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Chn1 A T 2: 73,462,094 (GRCm39) C236* probably null Het
Coro1b T C 19: 4,199,362 (GRCm39) V7A probably damaging Het
Dhx16 A G 17: 36,201,859 (GRCm39) Y962C probably damaging Het
Dixdc1 T C 9: 50,596,153 (GRCm39) D152G probably damaging Het
Dmrt1 T C 19: 25,483,467 (GRCm39) S84P probably damaging Het
Dnah10 A G 5: 124,832,799 (GRCm39) D844G probably benign Het
Efcab7 T C 4: 99,735,487 (GRCm39) probably null Het
Fam83g A G 11: 61,594,218 (GRCm39) D584G probably damaging Het
Fbxo7 T A 10: 85,865,102 (GRCm39) probably null Het
Ffar1 T C 7: 30,560,055 (GRCm39) T281A probably benign Het
Fntb T C 12: 76,934,826 (GRCm39) V201A probably benign Het
Gart C A 16: 91,438,215 (GRCm39) A101S probably damaging Het
Gbp9 T C 5: 105,232,939 (GRCm39) T238A probably benign Het
Hectd4 T C 5: 121,424,329 (GRCm39) L663S possibly damaging Het
Helz2 A T 2: 180,872,386 (GRCm39) V2512E probably damaging Het
Hip1 A C 5: 135,487,009 (GRCm39) L66R probably damaging Het
Iigp1 T A 18: 60,523,375 (GRCm39) D164E probably benign Het
Kcnip3 A G 2: 127,301,986 (GRCm39) S193P probably damaging Het
Klra9 T A 6: 130,165,707 (GRCm39) T103S probably benign Het
Meis2 T C 2: 115,694,709 (GRCm39) *471W probably null Het
Minar1 T G 9: 89,484,256 (GRCm39) E380D probably damaging Het
Mrpl21 T C 19: 3,334,792 (GRCm39) S45P possibly damaging Het
Mterf1b A G 5: 4,246,488 (GRCm39) E43G probably benign Het
Mycbp2 G T 14: 103,372,569 (GRCm39) S4092R probably damaging Het
Nfatc3 A T 8: 106,822,828 (GRCm39) N538I probably damaging Het
Nphp4 T C 4: 152,641,503 (GRCm39) C1095R probably benign Het
Npm2 T A 14: 70,889,993 (GRCm39) T13S probably benign Het
Or1m1 C A 9: 18,666,137 (GRCm39) V265F probably damaging Het
Or7e176 T A 9: 20,171,797 (GRCm39) F220L probably benign Het
Plcg2 A T 8: 118,342,112 (GRCm39) I1158F probably damaging Het
Popdc3 T C 10: 45,193,829 (GRCm39) V210A possibly damaging Het
Postn T C 3: 54,292,698 (GRCm39) L755S possibly damaging Het
Prdx6b T C 2: 80,123,373 (GRCm39) F61L probably damaging Het
Rars1 C T 11: 35,716,847 (GRCm39) R223H probably damaging Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Scaf4 A G 16: 90,057,058 (GRCm39) Y98H unknown Het
Scn4a A G 11: 106,214,775 (GRCm39) I1274T probably damaging Het
Senp2 G T 16: 21,828,444 (GRCm39) R18L probably damaging Het
Six5 T A 7: 18,830,381 (GRCm39) V336D probably damaging Het
Slc31a2 G A 4: 62,210,890 (GRCm39) E8K probably benign Het
Slc4a7 A T 14: 14,738,299 (GRCm38) T184S probably damaging Het
Slco2a1 T A 9: 102,950,513 (GRCm39) probably null Het
Smr3a T G 5: 88,156,070 (GRCm39) probably benign Het
Sqor T C 2: 122,629,442 (GRCm39) V100A probably benign Het
Srarp T C 4: 141,160,459 (GRCm39) N125D possibly damaging Het
Stam T C 2: 14,143,802 (GRCm39) V364A probably benign Het
Tgm5 T C 2: 120,908,039 (GRCm39) I46V possibly damaging Het
Tie1 A T 4: 118,337,766 (GRCm39) V443E probably damaging Het
Tipin T C 9: 64,195,397 (GRCm39) M1T probably null Het
Tnc T C 4: 63,925,931 (GRCm39) T950A probably benign Het
Tns3 T C 11: 8,385,852 (GRCm39) D1382G probably benign Het
Tor1aip1 A G 1: 155,911,686 (GRCm39) V99A possibly damaging Het
Trim16 C T 11: 62,711,297 (GRCm39) probably benign Het
Ttn G T 2: 76,618,701 (GRCm39) N14448K possibly damaging Het
Ttn C T 2: 76,717,204 (GRCm39) probably benign Het
Tut4 A G 4: 108,343,752 (GRCm39) R255G probably benign Het
Vmn1r23 A G 6: 57,903,175 (GRCm39) I201T probably benign Het
Vmn2r13 T A 5: 109,321,679 (GRCm39) K339N probably benign Het
Yap1 A G 9: 8,001,468 (GRCm39) Y173H probably damaging Het
Other mutations in Edn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7500:Edn3 UTSW 2 174,621,328 (GRCm39) splice site probably null
R9205:Edn3 UTSW 2 174,603,482 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- CAGCAGCTTAGGAGCCCTTCAATC -3'
(R):5'- TGTGAGCATCTAAAGTCCCACCCC -3'

Sequencing Primer
(F):5'- AGGAGCCCTTCAATCCTCCTC -3'
(R):5'- CAGCACTGAGTTTCTTTGTAACTAGG -3'
Posted On 2013-05-09