Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Ednra'

34349

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

038352-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0058 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

78389658-78451081 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 78393951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034029 (fasta)

Gene Model

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

AlphaFold

Q61614

Predicted Effect

probably null
Transcript: ENSMUST00000034029

SMART Domains

Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616

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: ENSMUST00000139140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211466

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	G	5: 137,289,104 (GRCm39)	V270G	probably damaging	Het
Acss1	A	T	2: 150,470,459 (GRCm39)	W394R	probably damaging	Het
Adgrv1	A	G	13: 81,330,791 (GRCm39)	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,580,691 (GRCm39)		probably benign	Het
Anxa1	A	T	19: 20,361,141 (GRCm39)	Y84N	probably damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,527,524 (GRCm39)	T16A	probably benign	Het
Bpifb1	G	A	2: 154,048,460 (GRCm39)	R165H	possibly damaging	Het
Cables1	A	G	18: 12,056,470 (GRCm39)	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,761,629 (GRCm39)	I427L	probably damaging	Het
Ccdc97	T	C	7: 25,415,405 (GRCm39)	D86G	probably benign	Het
Cgnl1	C	A	9: 71,548,679 (GRCm39)	D1081Y	probably damaging	Het
Cgnl1	T	A	9: 71,632,122 (GRCm39)	R410W	probably damaging	Het
Cntnap4	G	A	8: 113,512,416 (GRCm39)	E593K	probably damaging	Het
Dazap1	T	C	10: 80,097,415 (GRCm39)		probably benign	Het
Dip2b	A	G	15: 100,113,121 (GRCm39)	E1512G	probably benign	Het
Dock1	G	A	7: 134,710,490 (GRCm39)	V1171M	possibly damaging	Het
Dock5	A	T	14: 68,018,485 (GRCm39)	F1230Y	probably benign	Het
Dym	G	A	18: 75,176,243 (GRCm39)	E15K	possibly damaging	Het
Faf1	A	G	4: 109,593,821 (GRCm39)	Q133R	probably benign	Het
Fbxw28	A	G	9: 109,157,279 (GRCm39)	I323T	probably benign	Het
Fcer2a	T	C	8: 3,738,111 (GRCm39)		probably benign	Het
Fmo2	A	T	1: 162,713,893 (GRCm39)	S204R	probably benign	Het
Frmd4b	A	G	6: 97,400,460 (GRCm39)	V63A	probably damaging	Het
Fzd8	G	A	18: 9,213,985 (GRCm39)	A356T	possibly damaging	Het
Ghitm	A	G	14: 36,853,549 (GRCm39)	L97P	probably damaging	Het
Gins4	A	G	8: 23,719,526 (GRCm39)		probably benign	Het
Golga3	T	A	5: 110,350,643 (GRCm39)	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Helz	A	T	11: 107,563,384 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,820,231 (GRCm39)	V2851A	possibly damaging	Het
Igkv8-18	G	A	6: 70,333,105 (GRCm39)		probably benign	Het
Igll1	A	T	16: 16,681,740 (GRCm39)	V5E	probably benign	Het
Irx3	T	C	8: 92,527,168 (GRCm39)	T179A	possibly damaging	Het
Kif16b	A	G	2: 142,699,225 (GRCm39)		probably null	Het
Limk1	A	T	5: 134,688,725 (GRCm39)	W507R	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mtif3	C	A	5: 146,893,731 (GRCm39)	V159F	probably benign	Het
Myh6	C	T	14: 55,200,861 (GRCm39)	R169Q	probably damaging	Het
Ncoa7	T	A	10: 30,523,537 (GRCm39)	D887V	probably damaging	Het
Obox7	C	T	7: 14,398,313 (GRCm39)	P76S	probably benign	Het
Or10ak12	A	G	4: 118,666,677 (GRCm39)	M128T	probably benign	Het
Or11l3	A	T	11: 58,516,494 (GRCm39)	I126N	probably damaging	Het
Pitpnm2	G	A	5: 124,262,093 (GRCm39)	A862V	probably damaging	Het
Pkd1	G	C	17: 24,783,677 (GRCm39)	A162P	probably benign	Het
Plce1	A	G	19: 38,513,628 (GRCm39)	D309G	possibly damaging	Het
Plk4	T	C	3: 40,760,307 (GRCm39)	V401A	probably benign	Het
Prdx3	T	C	19: 60,862,950 (GRCm39)		probably benign	Het
Prrc2c	C	T	1: 162,526,453 (GRCm39)	V253I	unknown	Het
Ranbp2	T	A	10: 58,316,353 (GRCm39)	S2358T	probably damaging	Het
Setd2	T	A	9: 110,423,494 (GRCm39)	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,432,953 (GRCm39)	S232C	probably damaging	Het
Skint6	A	T	4: 112,904,012 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,909 (GRCm39)	I531T	probably benign	Het
Slc36a1	C	T	11: 55,112,820 (GRCm39)		probably benign	Het
Sorbs2	C	A	8: 46,249,300 (GRCm39)	D831E	probably damaging	Het
Sorbs2	T	A	8: 46,238,291 (GRCm39)		probably null	Het
Sptan1	T	C	2: 29,883,708 (GRCm39)		probably null	Het
Stam	T	C	2: 14,142,952 (GRCm39)	C336R	probably damaging	Het
Stil	G	T	4: 114,898,495 (GRCm39)	A1042S	probably damaging	Het
Stxbp5l	T	A	16: 36,962,736 (GRCm39)	D773V	possibly damaging	Het
Sugct	A	T	13: 17,847,166 (GRCm39)	L39Q	probably damaging	Het
Tep1	A	G	14: 51,071,522 (GRCm39)	V2041A	possibly damaging	Het
Tex15	C	T	8: 34,071,530 (GRCm39)		probably benign	Het
Tlr9	T	G	9: 106,102,164 (GRCm39)	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,343,579 (GRCm39)		probably benign	Het
Triml2	T	C	8: 43,638,306 (GRCm39)		probably benign	Het
Trip6	A	G	5: 137,309,107 (GRCm39)		probably benign	Het
Tspear	T	C	10: 77,705,465 (GRCm39)	F288L	probably benign	Het
Vmn1r179	C	T	7: 23,628,592 (GRCm39)	T261I	possibly damaging	Het
Zfp644	A	T	5: 106,784,869 (GRCm39)	S559R	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCGGAGACAGGCTAAAGTCTAAG -3'
(R):5'- TGGTAAATGCCACCCAGCAGATTC -3'

Sequencing Primer
(F):5'- TGGATGCAATGAAGTCAGTCTC -3'
(R):5'- CCAGCAGATTCTAAAGCAATGTG -3'

Posted On

2013-05-09