Incidental Mutation 'IGL02943:Ednra'
ID364606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ednra
Ensembl Gene ENSMUSG00000031616
Gene Nameendothelin receptor type A
SynonymsGpcr10, ET-AR, ETa
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02943
Quality Score
Status
Chromosome8
Chromosomal Location77663031-77724464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77720054 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 132 (I132F)
Ref Sequence ENSEMBL: ENSMUSP00000034029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034029]
Predicted Effect probably damaging
Transcript: ENSMUST00000034029
AA Change: I132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616
AA Change: I132F

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: ENSMUST00000146561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209273
Coding Region Coverage
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,147,188 R1102G probably damaging Het
Akp3 T A 1: 87,126,369 Y236* probably null Het
Ankrd13c C T 3: 157,947,927 T134M probably damaging Het
Arhgef18 T C 8: 3,448,553 S529P probably damaging Het
Cdkl2 T A 5: 92,037,244 N96I possibly damaging Het
Cep57 A T 9: 13,818,853 probably benign Het
Chchd7 T C 4: 3,942,796 Y44H probably damaging Het
Ciart T C 3: 95,879,002 I254V possibly damaging Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Dlgap5 A G 14: 47,412,976 probably null Het
En2 T C 5: 28,166,526 probably benign Het
Fsip2 C A 2: 82,992,357 Q6145K probably benign Het
Galnt5 A T 2: 57,999,768 D460V probably damaging Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gpr84 T C 15: 103,308,889 I254V probably benign Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Hyal6 T A 6: 24,743,439 V378E probably damaging Het
Il20rb G T 9: 100,466,252 H210N probably benign Het
Iqgap2 A G 13: 95,661,735 probably benign Het
Itga1 C T 13: 115,049,296 E57K possibly damaging Het
Jmjd1c T A 10: 67,219,654 D571E probably damaging Het
Kmt2c T C 5: 25,290,823 S623G probably damaging Het
L3mbtl2 T A 15: 81,686,255 S645T possibly damaging Het
Lrp2 A G 2: 69,455,510 V3779A possibly damaging Het
Lrpprc T C 17: 84,771,450 R279G probably benign Het
Lurap1l A G 4: 80,953,635 K122E probably damaging Het
Met T C 6: 17,535,929 Y785H possibly damaging Het
Myh3 T C 11: 67,091,065 F796L probably benign Het
Myo16 T C 8: 10,400,595 probably benign Het
Nedd4l T C 18: 65,161,652 probably null Het
Nlrp4c T C 7: 6,065,975 C292R probably damaging Het
Nmnat1 A G 4: 149,473,288 L99P probably damaging Het
Olfr340 A T 2: 36,453,039 L151F probably benign Het
Olfr488 A G 7: 108,255,416 F241L possibly damaging Het
Pclo T C 5: 14,669,221 V1124A unknown Het
Phf20l1 A G 15: 66,594,884 Y54C probably damaging Het
Postn T C 3: 54,377,608 probably null Het
Ppp2r1b A G 9: 50,883,585 D570G probably damaging Het
Prdm2 A C 4: 143,131,972 S1583A probably benign Het
Proser1 T C 3: 53,479,103 V802A probably damaging Het
Ptprc A T 1: 138,099,513 N532K probably damaging Het
Ptprk A G 10: 28,475,176 H555R possibly damaging Het
Ranbp6 T C 19: 29,812,124 D276G possibly damaging Het
Rasgrf2 A G 13: 91,983,633 V635A probably damaging Het
Rbm5 T C 9: 107,744,343 Y620C probably damaging Het
Sall1 C T 8: 89,031,121 R785H probably damaging Het
Slc22a2 G T 17: 12,610,061 L351F probably damaging Het
Sorcs3 A T 19: 48,759,938 Q782L probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r107 T A 6: 131,659,406 M227L probably damaging Het
Tecpr2 C T 12: 110,967,749 T1281I probably benign Het
Topbp1 T A 9: 103,328,440 V759E probably benign Het
Trim2 T C 3: 84,178,176 T504A probably benign Het
Trpc1 A G 9: 95,708,853 probably benign Het
Tssk4 T A 14: 55,651,566 V183E probably damaging Het
Vmn1r202 T C 13: 22,502,194 T18A probably benign Het
Vmn1r225 T C 17: 20,502,305 S3P possibly damaging Het
Vmn2r101 T A 17: 19,611,404 V554E probably damaging Het
Vps13a T C 19: 16,663,886 I2291V probably damaging Het
Vps39 A G 2: 120,339,487 S195P possibly damaging Het
Zfand4 T A 6: 116,273,876 probably benign Het
Other mutations in Ednra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Ednra APN 8 77675071 missense probably damaging 1.00
IGL03213:Ednra APN 8 77720219 missense probably benign
Starved UTSW 8 77675067 missense possibly damaging 0.82
R0058:Ednra UTSW 8 77667322 critical splice donor site probably null
R0080:Ednra UTSW 8 77675059 missense probably benign
R0894:Ednra UTSW 8 77720020 splice site probably benign
R1746:Ednra UTSW 8 77671582 missense probably benign 0.44
R1872:Ednra UTSW 8 77720396 missense possibly damaging 0.46
R1934:Ednra UTSW 8 77689118 missense possibly damaging 0.55
R3776:Ednra UTSW 8 77675095 missense probably damaging 1.00
R4177:Ednra UTSW 8 77675048 missense possibly damaging 0.54
R4274:Ednra UTSW 8 77720302 missense probably benign 0.01
R4544:Ednra UTSW 8 77674911 critical splice donor site probably null
R4697:Ednra UTSW 8 77664995 missense probably benign 0.01
R4704:Ednra UTSW 8 77667963 intron probably benign
R4863:Ednra UTSW 8 77667383 missense probably damaging 1.00
R5265:Ednra UTSW 8 77667375 missense probably damaging 1.00
R5346:Ednra UTSW 8 77674968 missense probably damaging 1.00
R5772:Ednra UTSW 8 77675067 missense possibly damaging 0.82
R6005:Ednra UTSW 8 77674927 missense possibly damaging 0.91
R6147:Ednra UTSW 8 77667322 critical splice donor site probably benign
R6384:Ednra UTSW 8 77689094 missense probably damaging 1.00
R6743:Ednra UTSW 8 77675089 missense probably damaging 0.99
R7084:Ednra UTSW 8 77665105 nonsense probably null
R8345:Ednra UTSW 8 77689184 missense probably damaging 1.00
Posted On2015-12-18