Incidental Mutation 'R2017:Edn3'
ID 223173
Institutional Source Beutler Lab
Gene Symbol Edn3
Ensembl Gene ENSMUSG00000027524
Gene Name endothelin 3
Synonyms tmgc48, 114-CH19, 114CH19
MMRRC Submission 040026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2017 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 174602412-174625835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 174620455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 103 (E103G)
Ref Sequence ENSEMBL: ENSMUSP00000125602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029030] [ENSMUST00000140908]
AlphaFold P48299
Predicted Effect probably benign
Transcript: ENSMUST00000029030
AA Change: E147G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029030
Gene: ENSMUSG00000027524
AA Change: E147G

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: E103G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125602
Gene: ENSMUSG00000027524
AA Change: E103G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162473
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abcc1 T A 16: 14,279,068 (GRCm39) V1126E probably damaging Het
Abcc12 A G 8: 87,290,617 (GRCm39) L41S probably damaging Het
Adgrg7 T C 16: 56,553,169 (GRCm39) T643A probably benign Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Apool T A X: 111,274,258 (GRCm39) S234T probably benign Het
Ascc3 C T 10: 50,566,307 (GRCm39) P751S probably benign Het
Astn2 G A 4: 65,459,178 (GRCm39) T1079I probably damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcas1 A C 2: 170,190,081 (GRCm39) probably null Het
Btk T C X: 133,448,350 (GRCm39) D355G probably benign Het
C2cd4c A G 10: 79,448,823 (GRCm39) V108A possibly damaging Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Cd22 A T 7: 30,572,205 (GRCm39) L423Q probably damaging Het
Cep128 T C 12: 91,333,238 (GRCm39) D9G probably damaging Het
Cer1 A T 4: 82,801,120 (GRCm39) V181D probably damaging Het
Ciita T C 16: 10,329,540 (GRCm39) L584P probably damaging Het
Cmss1 T C 16: 57,136,641 (GRCm39) D77G probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Cyria T A 12: 12,412,362 (GRCm39) V208D probably damaging Het
Dcaf1 A G 9: 106,725,122 (GRCm39) E536G probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dsg1c T C 18: 20,399,253 (GRCm39) V119A possibly damaging Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Epx T C 11: 87,765,163 (GRCm39) D178G probably damaging Het
Fkbp10 G A 11: 100,312,499 (GRCm39) V252I possibly damaging Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Gla C T X: 133,497,071 (GRCm39) A39T probably damaging Het
Hivep2 C T 10: 14,006,501 (GRCm39) T1033M probably damaging Het
Hsd17b8 A T 17: 34,245,187 (GRCm39) M259K probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Ikzf4 C T 10: 128,470,026 (GRCm39) G498D probably damaging Het
Impg1 T C 9: 80,322,720 (GRCm39) Y95C probably damaging Het
Ino80c T A 18: 24,244,810 (GRCm39) K136* probably null Het
Iqsec1 A C 6: 90,666,912 (GRCm39) H508Q probably benign Het
Itgb3 A G 11: 104,528,788 (GRCm39) H305R possibly damaging Het
Jup T A 11: 100,277,167 (GRCm39) T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 T C 14: 100,260,073 (GRCm39) R219G possibly damaging Het
Klhl42 G T 6: 147,009,291 (GRCm39) V377L probably benign Het
Large1 A G 8: 73,578,825 (GRCm39) F460S probably damaging Het
Loxl3 A T 6: 83,025,958 (GRCm39) D402V probably damaging Het
Lrrc37a T A 11: 103,391,951 (GRCm39) Y1158F probably benign Het
Map2 T A 1: 66,451,958 (GRCm39) S365T probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Med26 A G 8: 73,250,791 (GRCm39) S103P probably damaging Het
Muc4 T C 16: 32,570,121 (GRCm39) S394P possibly damaging Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Obox5 T C 7: 15,492,807 (GRCm39) I254T probably benign Het
Or1p1c T A 11: 74,161,159 (GRCm39) W315R probably benign Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or52j3 T C 7: 102,836,137 (GRCm39) F110L probably benign Het
Or7c19 T C 8: 85,957,373 (GRCm39) L83P possibly damaging Het
Pacs2 A T 12: 113,026,077 (GRCm39) N545Y probably damaging Het
Palld T C 8: 62,137,799 (GRCm39) E652G probably damaging Het
Pgm5 T C 19: 24,801,676 (GRCm39) N184S probably benign Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Pramel13 A G 4: 144,121,244 (GRCm39) V260A possibly damaging Het
Prr36 T A 8: 4,265,205 (GRCm39) T182S probably benign Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Ptprm G T 17: 67,264,148 (GRCm39) probably null Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Rfx6 A G 10: 51,597,700 (GRCm39) N513S possibly damaging Het
Rhbdf1 A G 11: 32,160,471 (GRCm39) I693T probably damaging Het
Scn9a T C 2: 66,345,665 (GRCm39) T1143A probably damaging Het
Spata17 A G 1: 186,780,650 (GRCm39) S366P possibly damaging Het
Svep1 A G 4: 58,070,568 (GRCm39) L2406P probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tgfb2 A T 1: 186,362,962 (GRCm39) Y287* probably null Het
Trip11 A T 12: 101,851,619 (GRCm39) V815E probably benign Het
Trp53bp2 G T 1: 182,276,580 (GRCm39) V854L probably benign Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r86 T C 10: 130,282,582 (GRCm39) K678R probably benign Het
Yeats2 T A 16: 19,977,931 (GRCm39) N138K probably benign Het
Zup1 A T 10: 33,803,460 (GRCm39) N541K possibly damaging 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
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'- AGCAGCCCATTTCAGTGTCTG -3'
(R):5'- TGAGGACCTGGCTAAGCTAC -3'

Sequencing Primer
(F):5'- CAGTGTCTGGTTCATCCAAATG -3'
(R):5'- GACCTGGCTAAGCTACCCTCTAG -3'
Posted On 2014-08-25