Incidental Mutation 'R7084:Ednra'
ID 549758
Institutional Source Beutler Lab
Gene Symbol Ednra
Ensembl Gene ENSMUSG00000031616
Gene Name endothelin receptor type A
Synonyms AEA001, ET-AR, Gpcr10, Mhdaaea1, ETa
MMRRC Submission 045178-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7084 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 78389658-78451081 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 78391734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 385 (C385*)
Ref Sequence ENSEMBL: ENSMUSP00000034029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034029]
AlphaFold Q61614
Predicted Effect probably null
Transcript: ENSMUST00000034029
AA Change: C385*
SMART Domains Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616
AA Change: C385*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:7tm_1 97 370 8.4e-36 PFAM
low complexity region 376 394 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous inactivation of this gene results in numerous severe craniofacial defects and perinatal lethality. Aberrant middle ear development and cardiac defects, including great vessel malformations and abnormal cardiac outflow tract development, have been observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,721 (GRCm39) D8E unknown Het
Abca5 T A 11: 110,192,371 (GRCm39) I714L probably benign Het
Abce1 T A 8: 80,426,043 (GRCm39) S245C probably benign Het
Abcg1 T A 17: 31,325,105 (GRCm39) D310E probably benign Het
Adhfe1 T A 1: 9,637,030 (GRCm39) I394N probably benign Het
Apob A T 12: 8,059,591 (GRCm39) D2691V probably benign Het
Arhgap18 A G 10: 26,748,734 (GRCm39) T340A possibly damaging Het
Arsb A T 13: 94,077,124 (GRCm39) Q497L probably benign Het
Asic5 T C 3: 81,919,318 (GRCm39) I354T probably benign Het
Atp6v0a1 T C 11: 100,924,868 (GRCm39) C318R probably damaging Het
Cftr T C 6: 18,226,137 (GRCm39) Y362H probably benign Het
Crip3 T C 17: 46,741,716 (GRCm39) Y113H probably benign Het
Dcaf4 AT A 12: 83,584,571 (GRCm39) probably null Het
Dock10 T A 1: 80,481,573 (GRCm39) I475F Het
Dqx1 T A 6: 83,043,436 (GRCm39) Y674N probably damaging Het
Dync2h1 G T 9: 7,113,214 (GRCm39) Q2437K possibly damaging Het
Fam216a G A 5: 122,507,623 (GRCm39) T68I probably benign Het
Fbxw22 A G 9: 109,233,291 (GRCm39) L14P probably damaging Het
Fem1al G T 11: 29,775,009 (GRCm39) H149Q probably damaging Het
Fkbp10 A G 11: 100,312,129 (GRCm39) I230V possibly damaging Het
Ggn C A 7: 28,872,423 (GRCm39) A637E probably damaging Het
Hcrtr2 T C 9: 76,137,942 (GRCm39) D391G probably benign Het
Heatr5b A T 17: 79,117,992 (GRCm39) V817D possibly damaging Het
Il1f10 G A 2: 24,183,682 (GRCm39) W120* probably null Het
Irf5 C A 6: 29,535,876 (GRCm39) R297S probably damaging Het
Jak2 A G 19: 29,263,798 (GRCm39) T438A possibly damaging Het
Jsrp1 T C 10: 80,644,410 (GRCm39) D332G possibly damaging Het
Kank4 A T 4: 98,659,582 (GRCm39) V832D probably damaging Het
Kcnip3 C T 2: 127,352,856 (GRCm39) S25N probably benign Het
Klk1b16 C T 7: 43,788,910 (GRCm39) H48Y probably benign Het
Klrh1 C A 6: 129,743,673 (GRCm39) A204S possibly damaging Het
Krtap5-4 G A 7: 141,857,609 (GRCm39) C93Y unknown Het
Lacc1 T A 14: 77,267,096 (GRCm39) Q389L probably benign Het
Lin9 C A 1: 180,515,661 (GRCm39) T477K probably benign Het
Lpar2 A T 8: 70,276,256 (GRCm39) N15I probably damaging Het
Ltbp2 C A 12: 84,915,459 (GRCm39) C200F probably damaging Het
Mall G T 2: 127,550,793 (GRCm39) H122Q probably benign Het
Mast3 T C 8: 71,232,117 (GRCm39) I1287V probably benign Het
Mindy4 T C 6: 55,255,220 (GRCm39) I566T probably benign Het
Mme T C 3: 63,235,638 (GRCm39) Y195H probably damaging Het
Mpzl1 T C 1: 165,432,267 (GRCm39) T173A probably benign Het
Mri1 G T 8: 84,977,708 (GRCm39) T209N Het
Myo1e A G 9: 70,245,083 (GRCm39) I394V probably damaging Het
Nat14 T C 7: 4,927,329 (GRCm39) V167A possibly damaging Het
Nfasc A G 1: 132,498,247 (GRCm39) Y1212H unknown Het
Nsun7 T A 5: 66,452,764 (GRCm39) L493Q probably damaging Het
Obsl1 A T 1: 75,464,394 (GRCm39) S1637R probably benign Het
Ocstamp A T 2: 165,239,957 (GRCm39) Y76* probably null Het
Or5b95 A C 19: 12,658,198 (GRCm39) H242P probably damaging Het
Or6c2b T A 10: 128,947,416 (GRCm39) K293* probably null Het
Or8b52 G A 9: 38,576,565 (GRCm39) R192C probably benign Het
Otog T A 7: 45,947,990 (GRCm39) C145* probably null Het
Padi6 T A 4: 140,468,869 (GRCm39) K5* probably null Het
Pcdha5 T A 18: 37,094,615 (GRCm39) S375T probably benign Het
Pde10a C T 17: 9,159,994 (GRCm39) P140S probably benign Het
Pgbd1 C G 13: 21,607,300 (GRCm39) C298S possibly damaging Het
Plch2 C T 4: 155,071,448 (GRCm39) G977D probably benign Het
Pou2f3 T C 9: 43,040,188 (GRCm39) T367A probably damaging Het
Ppm1j T A 3: 104,692,276 (GRCm39) Y352N probably damaging Het
Prkag2 T C 5: 25,226,967 (GRCm39) T97A probably benign Het
Rpl36a-ps1 T A 14: 99,231,660 (GRCm39) Y26F probably benign Het
Sctr A T 1: 119,991,001 (GRCm39) N445Y possibly damaging Het
Serping1 C T 2: 84,603,835 (GRCm39) V69I probably benign Het
Slc8a2 T A 7: 15,878,963 (GRCm39) L483Q probably benign Het
Spag17 T C 3: 99,846,586 (GRCm39) F37L probably benign Het
Srrm2 T A 17: 24,039,290 (GRCm39) M1978K probably damaging Het
Tcp11 T C 17: 28,285,995 (GRCm39) Q540R probably benign Het
Thnsl1 G T 2: 21,217,141 (GRCm39) R298S possibly damaging Het
Tigd5 T A 15: 75,782,230 (GRCm39) Y197* probably null Het
Tmprss11g A T 5: 86,640,059 (GRCm39) L203Q probably damaging Het
Trim35 T A 14: 66,546,271 (GRCm39) V346E probably damaging Het
Ttn T C 2: 76,598,708 (GRCm39) I19402V possibly damaging Het
Ttn C T 2: 76,749,689 (GRCm39) E3787K probably benign Het
Tut1 G A 19: 8,942,778 (GRCm39) V622I probably benign Het
Vmn1r2 A G 4: 3,172,134 (GRCm39) I18V probably benign Het
Zbbx T C 3: 75,046,853 (GRCm39) N22S possibly damaging Het
Zfp169 A C 13: 48,652,339 (GRCm39) M26R probably benign Het
Zfp180 T A 7: 23,804,686 (GRCm39) H368Q probably damaging Het
Zfp638 T A 6: 83,930,108 (GRCm39) S770T possibly damaging Het
Znrf1 T C 8: 112,263,774 (GRCm39) M1T probably null Het
Other mutations in Ednra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Ednra APN 8 78,401,700 (GRCm39) missense probably damaging 1.00
IGL02943:Ednra APN 8 78,446,683 (GRCm39) missense probably damaging 1.00
IGL03213:Ednra APN 8 78,446,848 (GRCm39) missense probably benign
Starved UTSW 8 78,401,696 (GRCm39) missense possibly damaging 0.82
R0058:Ednra UTSW 8 78,393,951 (GRCm39) critical splice donor site probably null
R0080:Ednra UTSW 8 78,401,688 (GRCm39) missense probably benign
R0894:Ednra UTSW 8 78,446,649 (GRCm39) splice site probably benign
R1746:Ednra UTSW 8 78,398,211 (GRCm39) missense probably benign 0.44
R1872:Ednra UTSW 8 78,447,025 (GRCm39) missense possibly damaging 0.46
R1934:Ednra UTSW 8 78,415,747 (GRCm39) missense possibly damaging 0.55
R3776:Ednra UTSW 8 78,401,724 (GRCm39) missense probably damaging 1.00
R4177:Ednra UTSW 8 78,401,677 (GRCm39) missense possibly damaging 0.54
R4274:Ednra UTSW 8 78,446,931 (GRCm39) missense probably benign 0.01
R4544:Ednra UTSW 8 78,401,540 (GRCm39) critical splice donor site probably null
R4697:Ednra UTSW 8 78,391,624 (GRCm39) missense probably benign 0.01
R4704:Ednra UTSW 8 78,394,592 (GRCm39) intron probably benign
R4863:Ednra UTSW 8 78,394,012 (GRCm39) missense probably damaging 1.00
R5265:Ednra UTSW 8 78,394,004 (GRCm39) missense probably damaging 1.00
R5346:Ednra UTSW 8 78,401,597 (GRCm39) missense probably damaging 1.00
R5772:Ednra UTSW 8 78,401,696 (GRCm39) missense possibly damaging 0.82
R6005:Ednra UTSW 8 78,401,556 (GRCm39) missense possibly damaging 0.91
R6147:Ednra UTSW 8 78,393,951 (GRCm39) critical splice donor site probably benign
R6384:Ednra UTSW 8 78,415,723 (GRCm39) missense probably damaging 1.00
R6743:Ednra UTSW 8 78,401,718 (GRCm39) missense probably damaging 0.99
R8345:Ednra UTSW 8 78,415,813 (GRCm39) missense probably damaging 1.00
R9421:Ednra UTSW 8 78,391,681 (GRCm39) missense probably damaging 1.00
R9497:Ednra UTSW 8 78,446,934 (GRCm39) missense probably benign 0.00
R9498:Ednra UTSW 8 78,446,934 (GRCm39) missense probably benign 0.00
R9570:Ednra UTSW 8 78,393,961 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- AGCGCATCTGTGGCGTAATG -3'
(R):5'- GAAAAGCAAGAGACCTCTGCTC -3'

Sequencing Primer
(F):5'- AATGGTTGTTTCCATCCTAGGAC -3'
(R):5'- GCAAGAGACCTCTGCTCCTGATC -3'
Posted On 2019-05-15