Incidental Mutation 'R6384:Ednra'
| ID |
515507 |
| 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 |
044533-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
78389658-78451081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78415723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 175
(N175D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034029]
|
| AlphaFold |
Q61614 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034029
AA Change: N175D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034029
Gene: ENSMUSG00000031616
AA Change: N175D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,790,066 (GRCm39) |
T97S |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,103,836 (GRCm39) |
D603V |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,659,716 (GRCm39) |
V859I |
probably benign |
Het |
| Alb |
T |
A |
5: 90,620,499 (GRCm39) |
D536E |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,860 (GRCm39) |
Y82C |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,233,744 (GRCm39) |
|
probably null |
Het |
| Bach1 |
C |
T |
16: 87,516,745 (GRCm39) |
Q429* |
probably null |
Het |
| Bcl6 |
A |
G |
16: 23,793,615 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,451 (GRCm39) |
V338A |
probably benign |
Het |
| Cdca3 |
C |
T |
6: 124,809,382 (GRCm39) |
P174L |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,047,827 (GRCm39) |
L25P |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,581,351 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
A |
T |
19: 39,380,737 (GRCm39) |
|
probably null |
Het |
| Elp3 |
T |
C |
14: 65,797,660 (GRCm39) |
Y337C |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,122,554 (GRCm39) |
|
probably null |
Het |
| F11r |
A |
G |
1: 171,288,508 (GRCm39) |
N117S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,947 (GRCm39) |
T716I |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,293,377 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,831,099 (GRCm39) |
M733T |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,709,387 (GRCm39) |
Q48* |
probably null |
Het |
| Hmga2 |
G |
A |
10: 120,206,612 (GRCm39) |
|
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,132,886 (GRCm39) |
V142A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,078,644 (GRCm39) |
N334D |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,100,317 (GRCm39) |
S298P |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,887,064 (GRCm39) |
S1415R |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,670,607 (GRCm39) |
L424Q |
probably damaging |
Het |
| Numb |
A |
C |
12: 83,850,748 (GRCm39) |
L154R |
probably damaging |
Het |
| Or8g27 |
T |
C |
9: 39,129,274 (GRCm39) |
V207A |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,381 (GRCm39) |
K193E |
probably benign |
Het |
| Pdcd5 |
G |
T |
7: 35,346,334 (GRCm39) |
A92E |
possibly damaging |
Het |
| Pdcl2 |
C |
T |
5: 76,478,855 (GRCm39) |
|
probably null |
Het |
| Rbfa |
T |
C |
18: 80,235,996 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,703,291 (GRCm39) |
T120I |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,206,655 (GRCm39) |
Q152R |
probably null |
Het |
| Setx |
T |
C |
2: 29,063,570 (GRCm39) |
S2289P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,907,017 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
T |
6: 142,055,105 (GRCm39) |
D280N |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,568 (GRCm39) |
Y240N |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,906,698 (GRCm39) |
Q873* |
probably null |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Ttc16 |
C |
T |
2: 32,657,561 (GRCm39) |
A512T |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 36,148,938 (GRCm39) |
E3G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,136 (GRCm39) |
Y464H |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,847 (GRCm39) |
H305L |
probably damaging |
Het |
| Yars1 |
T |
G |
4: 129,090,771 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- GGAAACCAGCTGTGTATCACTG -3'
(R):5'- TGGTCATGCATTCACACTGGG -3'
Sequencing Primer
(F):5'- TGCATACCGTGAAGAGTCTC -3'
(R):5'- GCATTCACACTGGGTATATGAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation