Mutagenetix > Incidental Mutation

Incidental Mutation 'R6005:Ednra'

479424

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

044425-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78389658-78451081 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78401556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 245 (S245P)

Ref Sequence

ENSEMBL: ENSMUSP00000034029 (fasta)

Gene Model

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

AlphaFold

Q61614

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034029
AA Change: S245P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616
AA Change: S245P

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	A	T	15: 85,378,310 (GRCm39)	I111N	unknown	Het
Adgb	C	T	10: 10,271,096 (GRCm39)	R849H	probably damaging	Het
Ahnak	T	C	19: 8,992,525 (GRCm39)	V4603A	possibly damaging	Het
Ank1	A	G	8: 23,622,218 (GRCm39)	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,028,554 (GRCm39)	D70G	probably damaging	Het
Arid2	T	C	15: 96,268,853 (GRCm39)	S989P	probably benign	Het
Bbs1	A	T	19: 4,953,823 (GRCm39)	Y113*	probably null	Het
Bfsp2	T	G	9: 103,325,749 (GRCm39)	K298T	probably damaging	Het
Bpi	G	A	2: 158,104,400 (GRCm39)	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,566,819 (GRCm39)	S921P	probably damaging	Het
Clec4d	A	C	6: 123,244,118 (GRCm39)	T76P	probably damaging	Het
Coq8b	C	T	7: 26,956,750 (GRCm39)	Q468*	probably null	Het
Dennd6b	T	C	15: 89,072,371 (GRCm39)	E248G	possibly damaging	Het
Epb41l4a	C	T	18: 33,961,196 (GRCm39)	C446Y	probably benign	Het
Fam221a	A	G	6: 49,344,756 (GRCm39)		probably benign	Het
Fam229a	T	C	4: 129,385,296 (GRCm39)	S76P	probably benign	Het
Fryl	C	T	5: 73,240,638 (GRCm39)	D1321N	probably damaging	Het
Gata3os	T	C	2: 9,887,638 (GRCm39)		probably benign	Het
Gli2	C	T	1: 118,769,794 (GRCm39)	R586H	probably damaging	Het
Gm94	C	T	18: 43,925,862 (GRCm39)	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,521,095 (GRCm39)	V355A	probably benign	Het
Grid1	C	A	14: 35,045,369 (GRCm39)	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,284,812 (GRCm39)	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,708,924 (GRCm39)	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887 (GRCm39)		probably null	Het
Ireb2	G	A	9: 54,816,089 (GRCm39)	G887S	probably damaging	Het
Kdsr	T	C	1: 106,662,311 (GRCm39)	E248G	probably benign	Het
Lemd2	C	G	17: 27,409,759 (GRCm39)	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,042,333 (GRCm39)	V246A	probably damaging	Het
Macf1	T	A	4: 123,368,068 (GRCm39)	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,188,301 (GRCm39)	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,189,927 (GRCm39)	D433G	possibly damaging	Het
Mir700	C	A	4: 135,139,618 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,903,246 (GRCm39)	F52L	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Mycbp2	A	C	14: 103,394,159 (GRCm39)	S2691A	probably benign	Het
Myorg	T	A	4: 41,498,895 (GRCm39)	H245L	probably benign	Het
Nktr	T	A	9: 121,577,460 (GRCm39)		probably benign	Het
Obsl1	C	A	1: 75,468,859 (GRCm39)		probably null	Het
Or10ag60	A	T	2: 87,438,424 (GRCm39)	I231F	probably damaging	Het
Or52r1b	A	T	7: 102,690,853 (GRCm39)	I51F	probably damaging	Het
Or5aq7	A	G	2: 86,938,407 (GRCm39)	V108A	probably benign	Het
Or7g35	C	T	9: 19,496,181 (GRCm39)	T116I	probably benign	Het
Or8c11	T	C	9: 38,289,605 (GRCm39)	S137P	probably damaging	Het
Pcdhb22	T	A	18: 37,652,789 (GRCm39)	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,456,187 (GRCm39)		probably null	Het
Pds5b	A	G	5: 150,693,241 (GRCm39)		probably null	Het
Pkd1l1	A	C	11: 8,807,113 (GRCm39)	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,626,784 (GRCm39)	M258K	possibly damaging	Het
Pramel23	T	A	4: 143,425,002 (GRCm39)	H147L	probably benign	Het
Prss12	A	T	3: 123,276,417 (GRCm39)	I349F	probably benign	Het
Ptpn21	A	G	12: 98,644,811 (GRCm39)	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,713 (GRCm39)	K1125M	probably benign	Het
Rnf182	A	G	13: 43,821,511 (GRCm39)	K21E	probably damaging	Het
Rpl6	G	A	5: 121,343,577 (GRCm39)		probably benign	Het
Samsn1	C	T	16: 75,670,402 (GRCm39)	V234I	probably benign	Het
Scrib	A	G	15: 75,929,600 (GRCm39)	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,511,737 (GRCm39)	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,719,809 (GRCm39)	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,706,229 (GRCm39)	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,320,153 (GRCm39)	E269K	probably damaging	Het
Slc44a4	T	A	17: 35,142,430 (GRCm39)	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,176,728 (GRCm39)	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,118,024 (GRCm39)	F352L	probably damaging	Het
Synj1	A	T	16: 90,766,174 (GRCm39)	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,870,659 (GRCm39)	R229K	probably benign	Het
Tcaf3	A	T	6: 42,566,905 (GRCm39)	I728K	probably benign	Het
Tcea1	A	G	1: 4,960,996 (GRCm39)	E167G	probably benign	Het
Timeless	G	A	10: 128,080,069 (GRCm39)	R406H	probably damaging	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Traj31	C	T	14: 54,425,388 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,599,907 (GRCm39)	V19089D	probably damaging	Het
Unc80	C	T	1: 66,666,416 (GRCm39)	S1868L	possibly damaging	Het
Wdr38	A	T	2: 38,891,333 (GRCm39)	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,322 (GRCm39)		probably benign	Het
Wnt5b	G	A	6: 119,410,615 (GRCm39)	P288L	probably benign	Het
Xkr5	G	T	8: 18,984,521 (GRCm39)	N174K	probably benign	Het
Zbtb6	C	T	2: 37,318,977 (GRCm39)	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- TATTCAAGAAGCTACACGCAGGC -3'
(R):5'- TTCAGGTACAGAGCAGTGGC -3'

Sequencing Primer
(F):5'- AGGCCAGGGTTGCCTTTCAG -3'
(R):5'- CTTCCTGGAGCCGAGTTCAAG -3'

Posted On

2017-06-26