Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Ednra'

401657

Institutional Source

Beutler Lab

Gene Symbol

Ednra

Ensembl Gene

ENSMUSG00000031616

Gene Name

endothelin receptor type A

Synonyms

Gpcr10, ET-AR, ETa

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77663031-77724464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77667375 bp (GRCm38)

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

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

0.8736

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly damaging	Het

Other mutations in Ednra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Ednra	APN	8	77675071	missense	probably damaging	1.00
IGL02943:Ednra	APN	8	77720054	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
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
R9421:Ednra	UTSW	8	77665052	missense	probably damaging	1.00
R9497:Ednra	UTSW	8	77720305	missense	probably benign	0.00
R9498:Ednra	UTSW	8	77720305	missense	probably benign	0.00
R9570:Ednra	UTSW	8	77667332	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