Incidental Mutation 'R4697:Ednra'
ID 355782
Institutional Source Beutler Lab
Gene Symbol Ednra
Ensembl Gene ENSMUSG00000031616
Gene Name endothelin receptor type A
Synonyms Gpcr10, ET-AR, ETa
MMRRC Submission 041947-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4697 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 77663031-77724464 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77664995 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 422 (H422R)
Ref Sequence ENSEMBL: ENSMUSP00000034029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034029]
AlphaFold Q61614
Predicted Effect probably benign
Transcript: ENSMUST00000034029
AA Change: H422R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616
AA Change: H422R

signal peptide 1 20 N/A INTRINSIC
Pfam:7tm_1 97 370 8.4e-36 PFAM
low complexity region 376 394 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211466
Meta Mutation Damage Score 0.0694 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,791,448 (GRCm38) I455N probably damaging Het
A2m T C 6: 121,638,284 (GRCm38) M1T probably null Het
Aatf T A 11: 84,449,138 (GRCm38) D449V probably damaging Het
Acbd3 T A 1: 180,721,944 (GRCm38) probably benign Het
BC005561 A G 5: 104,522,240 (GRCm38) K1543E probably benign Het
Bicc1 T A 10: 70,953,484 (GRCm38) I366F possibly damaging Het
Ccdc74a T C 16: 17,649,749 (GRCm38) S184P possibly damaging Het
Cntn4 T C 6: 106,525,485 (GRCm38) V401A probably damaging Het
Cux2 T C 5: 121,873,753 (GRCm38) T540A probably damaging Het
Disp2 G T 2: 118,791,684 (GRCm38) E966* probably null Het
Dpp7 A G 2: 25,354,919 (GRCm38) Y209H probably benign Het
Dstyk T A 1: 132,449,487 (GRCm38) F277Y probably damaging Het
Dtx1 A T 5: 120,694,408 (GRCm38) probably null Het
Ear-ps2 G A 14: 44,047,060 (GRCm38) noncoding transcript Het
Erlec1 T A 11: 30,952,640 (GRCm38) I67F probably benign Het
Fam161b G A 12: 84,348,558 (GRCm38) probably benign Het
Gata5 A T 2: 180,327,379 (GRCm38) C345* probably null Het
Glmp T C 3: 88,328,274 (GRCm38) V47A probably damaging Het
Gm9762 T A 3: 78,966,550 (GRCm38) noncoding transcript Het
Gnas A T 2: 174,298,080 (GRCm38) D14V probably damaging Het
Gnl3 T C 14: 31,017,329 (GRCm38) S53G probably damaging Het
Grhl3 C T 4: 135,548,466 (GRCm38) V527M probably damaging Het
Hoxd10 T A 2: 74,694,187 (GRCm38) L281* probably null Het
Kif16b T G 2: 142,690,694 (GRCm38) Y1175S probably benign Het
Kif2b A G 11: 91,576,846 (GRCm38) S204P probably benign Het
Klhl40 T A 9: 121,778,734 (GRCm38) I320N probably damaging Het
Ksr2 G A 5: 117,708,147 (GRCm38) R693Q probably damaging Het
Mis12 A G 11: 71,025,326 (GRCm38) K62E possibly damaging Het
Mlc1 A G 15: 88,974,777 (GRCm38) C102R probably damaging Het
Muc5b T C 7: 141,857,361 (GRCm38) I1348T unknown Het
Myh7b A G 2: 155,629,322 (GRCm38) E1130G probably damaging Het
Nat8f4 T C 6: 85,901,386 (GRCm38) T52A probably benign Het
Nxpe2 C A 9: 48,320,521 (GRCm38) V379L probably benign Het
Olfr1231 C A 2: 89,302,902 (GRCm38) S230I possibly damaging Het
Olfr1231 T A 2: 89,302,903 (GRCm38) S230C probably damaging Het
Olfr1448 C T 19: 12,919,934 (GRCm38) C125Y probably damaging Het
Olfr1465 A T 19: 13,313,717 (GRCm38) D189E probably benign Het
Olfr288 G A 15: 98,186,868 (GRCm38) R310W probably damaging Het
Pcdhga7 A T 18: 37,717,208 (GRCm38) Y756F probably damaging Het
Pcsk6 T A 7: 65,959,241 (GRCm38) Y284N probably damaging Het
Pdcd11 T C 19: 47,126,347 (GRCm38) V1367A possibly damaging Het
Postn T A 3: 54,375,071 (GRCm38) N484K probably damaging Het
Prkd3 C T 17: 78,961,171 (GRCm38) V572I probably benign Het
Qser1 T C 2: 104,787,183 (GRCm38) S1005G probably benign Het
Radil G T 5: 142,486,801 (GRCm38) D951E probably benign Het
Ripk1 C T 13: 34,027,942 (GRCm38) R352* probably null Het
Sacs T C 14: 61,212,747 (GRCm38) F4081L probably benign Het
Sbf1 A G 15: 89,315,085 (GRCm38) V11A possibly damaging Het
Sgip1 T A 4: 102,934,587 (GRCm38) F536I probably damaging Het
Slc45a1 A G 4: 150,638,284 (GRCm38) L381P probably damaging Het
Smarcad1 C T 6: 65,052,641 (GRCm38) P71L probably benign Het
Spns1 T A 7: 126,377,037 (GRCm38) D14V probably damaging Het
Sv2c T A 13: 95,986,018 (GRCm38) I417F possibly damaging Het
Tas2r113 T A 6: 132,893,516 (GRCm38) M169K probably benign Het
Tgm1 A T 14: 55,705,681 (GRCm38) N567K probably benign Het
Tln2 C T 9: 67,395,461 (GRCm38) R76Q probably damaging Het
Trpm6 T C 19: 18,853,791 (GRCm38) V1340A probably benign Het
Tspan18 A T 2: 93,312,030 (GRCm38) probably null Het
Txndc11 C T 16: 11,084,314 (GRCm38) V679I probably damaging Het
Usf1 G T 1: 171,416,964 (GRCm38) G144V possibly damaging Het
Vmn1r59 T C 7: 5,454,452 (GRCm38) Y103C probably damaging Het
Vmn2r23 A T 6: 123,741,826 (GRCm38) I713F probably damaging Het
Vmn2r79 A T 7: 87,037,960 (GRCm38) I850F probably damaging Het
Wdr90 C T 17: 25,855,363 (GRCm38) R676H probably benign Het
Zfp867 G A 11: 59,463,661 (GRCm38) R281W probably damaging Het
Zfp939 T C 7: 39,472,942 (GRCm38) noncoding transcript Het
Other mutations in Ednra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Ednra APN 8 77,675,071 (GRCm38) missense probably damaging 1.00
IGL02943:Ednra APN 8 77,720,054 (GRCm38) missense probably damaging 1.00
IGL03213:Ednra APN 8 77,720,219 (GRCm38) missense probably benign
Starved UTSW 8 77,675,067 (GRCm38) missense possibly damaging 0.82
R0058:Ednra UTSW 8 77,667,322 (GRCm38) critical splice donor site probably null
R0080:Ednra UTSW 8 77,675,059 (GRCm38) missense probably benign
R0894:Ednra UTSW 8 77,720,020 (GRCm38) splice site probably benign
R1746:Ednra UTSW 8 77,671,582 (GRCm38) missense probably benign 0.44
R1872:Ednra UTSW 8 77,720,396 (GRCm38) missense possibly damaging 0.46
R1934:Ednra UTSW 8 77,689,118 (GRCm38) missense possibly damaging 0.55
R3776:Ednra UTSW 8 77,675,095 (GRCm38) missense probably damaging 1.00
R4177:Ednra UTSW 8 77,675,048 (GRCm38) missense possibly damaging 0.54
R4274:Ednra UTSW 8 77,720,302 (GRCm38) missense probably benign 0.01
R4544:Ednra UTSW 8 77,674,911 (GRCm38) critical splice donor site probably null
R4704:Ednra UTSW 8 77,667,963 (GRCm38) intron probably benign
R4863:Ednra UTSW 8 77,667,383 (GRCm38) missense probably damaging 1.00
R5265:Ednra UTSW 8 77,667,375 (GRCm38) missense probably damaging 1.00
R5346:Ednra UTSW 8 77,674,968 (GRCm38) missense probably damaging 1.00
R5772:Ednra UTSW 8 77,675,067 (GRCm38) missense possibly damaging 0.82
R6005:Ednra UTSW 8 77,674,927 (GRCm38) missense possibly damaging 0.91
R6147:Ednra UTSW 8 77,667,322 (GRCm38) critical splice donor site probably benign
R6384:Ednra UTSW 8 77,689,094 (GRCm38) missense probably damaging 1.00
R6743:Ednra UTSW 8 77,675,089 (GRCm38) missense probably damaging 0.99
R7084:Ednra UTSW 8 77,665,105 (GRCm38) nonsense probably null
R8345:Ednra UTSW 8 77,689,184 (GRCm38) missense probably damaging 1.00
R9421:Ednra UTSW 8 77,665,052 (GRCm38) missense probably damaging 1.00
R9497:Ednra UTSW 8 77,720,305 (GRCm38) missense probably benign 0.00
R9498:Ednra UTSW 8 77,720,305 (GRCm38) missense probably benign 0.00
R9570:Ednra UTSW 8 77,667,332 (GRCm38) missense possibly damaging 0.73
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-21