Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Ednra'

364606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ednra

Ensembl Gene

ENSMUSG00000031616

Gene Name

endothelin receptor type A

Synonyms

AEA001, ET-AR, Gpcr10, Mhdaaea1, ETa

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

78389658-78451081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78446683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 132 (I132F)

Ref Sequence

ENSEMBL: ENSMUSP00000034029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034029]

AlphaFold

Q61614

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,653,564 (GRCm39)	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,498,553 (GRCm39)	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,185,103 (GRCm39)	N96I	possibly damaging	Het
Cep57	A	T	9: 13,730,149 (GRCm39)		probably benign	Het
Chchd7	T	C	4: 3,942,796 (GRCm39)	Y44H	probably damaging	Het
Ciart	T	C	3: 95,786,314 (GRCm39)	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dlgap5	A	G	14: 47,650,433 (GRCm39)		probably null	Het
En2	T	C	5: 28,371,524 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,846,613 (GRCm39)	R1102G	probably damaging	Het
Fsip2	C	A	2: 82,822,701 (GRCm39)	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,889,780 (GRCm39)	D460V	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,217,316 (GRCm39)	I254V	probably benign	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,438 (GRCm39)	V378E	probably damaging	Het
Il20rb	G	T	9: 100,348,305 (GRCm39)	H210N	probably benign	Het
Iqgap2	A	G	13: 95,798,243 (GRCm39)		probably benign	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,055,433 (GRCm39)	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,495,821 (GRCm39)	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,570,456 (GRCm39)	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,285,854 (GRCm39)	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 85,078,878 (GRCm39)	R279G	probably benign	Het
Lurap1l	A	G	4: 80,871,872 (GRCm39)	K122E	probably damaging	Het
Met	T	C	6: 17,535,928 (GRCm39)	Y785H	possibly damaging	Het
Myh3	T	C	11: 66,981,891 (GRCm39)	F796L	probably benign	Het
Myo16	T	C	8: 10,450,595 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,068,974 (GRCm39)	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,557,745 (GRCm39)	L99P	probably damaging	Het
Or1j12	A	T	2: 36,343,051 (GRCm39)	L151F	probably benign	Het
Or5p64	A	G	7: 107,854,623 (GRCm39)	F241L	possibly damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Phf20l1	A	G	15: 66,466,733 (GRCm39)	Y54C	probably damaging	Het
Postn	T	C	3: 54,285,029 (GRCm39)		probably null	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prdm2	A	C	4: 142,858,542 (GRCm39)	S1583A	probably benign	Het
Proser1	T	C	3: 53,386,524 (GRCm39)	V802A	probably damaging	Het
Ptprc	A	T	1: 138,027,251 (GRCm39)	N532K	probably damaging	Het
Ptprk	A	G	10: 28,351,172 (GRCm39)	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,789,524 (GRCm39)	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 92,131,752 (GRCm39)	V635A	probably damaging	Het
Rbm5	T	C	9: 107,621,542 (GRCm39)	Y620C	probably damaging	Het
Sall1	C	T	8: 89,757,749 (GRCm39)	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,828,948 (GRCm39)	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,748,377 (GRCm39)	Q782L	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r107	T	A	6: 131,636,369 (GRCm39)	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,934,183 (GRCm39)	T1281I	probably benign	Het
Topbp1	T	A	9: 103,205,639 (GRCm39)	V759E	probably benign	Het
Trim2	T	C	3: 84,085,483 (GRCm39)	T504A	probably benign	Het
Trpc1	A	G	9: 95,590,906 (GRCm39)		probably benign	Het
Tssk4	T	A	14: 55,889,023 (GRCm39)	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,686,364 (GRCm39)	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,722,567 (GRCm39)	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,831,666 (GRCm39)	V554E	probably damaging	Het
Vps13a	T	C	19: 16,641,250 (GRCm39)	I2291V	probably damaging	Het
Vps39	A	G	2: 120,169,968 (GRCm39)	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,250,837 (GRCm39)		probably benign	Het

Other mutations in Ednra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ednra	APN	8	78,401,700 (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
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

Posted On

2015-12-18