Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Ednra'

355782

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

041947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78389658-78451081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78391624 bp (GRCm39)

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

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

0.0694

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Aatf	T	A	11: 84,339,964 (GRCm39)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Cux2	T	C	5: 122,011,816 (GRCm39)	T540A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Gata5	A	T	2: 179,969,172 (GRCm39)	C345*	probably null	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Myh7b	A	G	2: 155,471,242 (GRCm39)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,791,784 (GRCm39)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,722,741 (GRCm39)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	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
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
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'- GACCCATTGGCTATAGCTGG -3'
(R):5'- TGTCTGGCTAGGACAAGCTC -3'

Sequencing Primer
(F):5'- CATTGGCTATAGCTGGGACCG -3'
(R):5'- CAAGCTTCCTGTGTGACTCAGAATG -3'

Posted On

2015-10-21