Incidental Mutation 'R5218:Edn3'
ID 403587
Institutional Source Beutler Lab
Gene Symbol Edn3
Ensembl Gene ENSMUSG00000027524
Gene Name endothelin 3
Synonyms tmgc48, 114-CH19, 114CH19
MMRRC Submission 042791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5218 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 174602412-174625835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 174603345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 31 (A31V)
Ref Sequence ENSEMBL: ENSMUSP00000029030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029030] [ENSMUST00000140908]
AlphaFold P48299
Predicted Effect probably benign
Transcript: ENSMUST00000029030
AA Change: A31V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029030
Gene: ENSMUSG00000027524
AA Change: A31V

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
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (60/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,628 (GRCm39) N230K possibly damaging Het
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Albfm1 A G 5: 90,729,777 (GRCm39) K400R probably benign Het
Amigo1 A G 3: 108,095,086 (GRCm39) probably null Het
Arhgap30 A T 1: 171,236,328 (GRCm39) T901S probably benign Het
Arpp21 T C 9: 111,972,499 (GRCm39) D264G probably damaging Het
Ccbe1 C T 18: 66,216,229 (GRCm39) G165S probably damaging Het
Celsr1 T C 15: 85,816,585 (GRCm39) D1786G probably damaging Het
Cntn1 T C 15: 92,237,430 (GRCm39) L1008P unknown Het
Dclk2 T A 3: 86,712,985 (GRCm39) D489V probably damaging Het
Dip2b T A 15: 100,052,177 (GRCm39) D259E probably benign Het
Disp3 T C 4: 148,327,333 (GRCm39) S1184G possibly damaging Het
Dync1li2 C T 8: 105,169,179 (GRCm39) W36* probably null Het
Ece2 A T 16: 20,437,290 (GRCm39) M211L probably benign Het
Enpp2 T C 15: 54,750,982 (GRCm39) Q266R possibly damaging Het
Fabp1 C A 6: 71,176,944 (GRCm39) Q12K probably damaging Het
Flt1 G A 5: 147,618,738 (GRCm39) T199M probably damaging Het
Galns T A 8: 123,325,328 (GRCm39) I275F probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gatb A G 3: 85,511,751 (GRCm39) I169V probably benign Het
Gpd1 T A 15: 99,618,011 (GRCm39) I109N probably damaging Het
Gps2 T C 11: 69,807,121 (GRCm39) probably null Het
Hsd17b12 T C 2: 93,913,608 (GRCm39) N99D probably benign Het
Itga3 A T 11: 94,953,574 (GRCm39) V256E probably benign Het
Kcnma1 T A 14: 23,513,253 (GRCm39) Y527F probably damaging Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrp1 C A 10: 127,384,488 (GRCm39) E3580D probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,026,736 (GRCm39) probably benign Het
Medag A T 5: 149,345,719 (GRCm39) probably benign Het
Ncdn C A 4: 126,644,603 (GRCm39) R73L probably benign Het
Nr4a1 T C 15: 101,170,034 (GRCm39) V339A probably benign Het
Ocln G T 13: 100,642,822 (GRCm39) P420Q probably damaging Het
Or5ac24 A T 16: 59,165,270 (GRCm39) S265T probably benign Het
Pank4 C T 4: 155,064,185 (GRCm39) T681I probably benign Het
Pcdhb6 T A 18: 37,467,388 (GRCm39) V103E possibly damaging Het
Pcsk6 T C 7: 65,675,036 (GRCm39) F469S probably benign Het
Phrf1 A G 7: 140,841,214 (GRCm39) N1353S possibly damaging Het
Pou6f2 A G 13: 18,326,586 (GRCm39) I72T probably damaging Het
Ppig T C 2: 69,563,127 (GRCm39) probably benign Het
Ptprh T C 7: 4,600,919 (GRCm39) S153G probably benign Het
Rab11b T C 17: 33,967,924 (GRCm39) N91S probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Slc2a9 A G 5: 38,610,524 (GRCm39) S92P probably damaging Het
Slit3 G A 11: 35,575,002 (GRCm39) probably null Het
Sox5 T C 6: 143,906,616 (GRCm39) I280V possibly damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tdrd9 C T 12: 112,029,909 (GRCm39) probably benign Het
Tmem273 T A 14: 32,538,793 (GRCm39) probably null Het
Tmem74 A T 15: 43,730,640 (GRCm39) N134K possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 T G 18: 63,812,538 (GRCm39) K85N probably benign Het
Vmn2r77 T A 7: 86,451,341 (GRCm39) M409K probably damaging Het
Wipf1 T C 2: 73,274,812 (GRCm39) D53G probably damaging Het
Wnt10a G A 1: 74,832,754 (GRCm39) V116I probably benign Het
Xpot T A 10: 121,455,043 (GRCm39) D33V probably damaging Het
Znrf3 C T 11: 5,231,519 (GRCm39) V665M 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
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
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'- CTTGGGGAAAATGCAACCAG -3'
(R):5'- CTTGTCCTTGTAAGTGAAGCACG -3'

Sequencing Primer
(F):5'- GCCTCCTCCAGACATTGCAG -3'
(R):5'- CCTTGTAAGTGAAGCACGTGCAG -3'
Posted On 2016-07-22