Incidental Mutation 'R5265:Ednra'
ID 401657
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 042833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 78389658-78451081 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78394004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 364 (I364T)
Ref Sequence ENSEMBL: ENSMUSP00000034029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034029]
AlphaFold Q61614
Predicted Effect probably damaging
Transcript: ENSMUST00000034029
AA Change: I364T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616
AA Change: I364T

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
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 0.8736 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging 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
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
R7084:Ednra UTSW 8 78,391,734 (GRCm39) nonsense probably null
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'- TGCCTGATCAAAGCAGTAGC -3'
(R):5'- ACTAAGCAATGCAATGATCCTGC -3'

Sequencing Primer
(F):5'- GCAAAACTGAATTGTCTGTGACTG -3'
(R):5'- CAATGATCCTGCAGTGCTTC -3'
Posted On 2016-07-06