Incidental Mutation 'IGL01974:Ednrb'
| ID |
181691 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ednrb
|
| Ensembl Gene |
ENSMUSG00000022122 |
| Gene Name |
endothelin receptor type B |
| Synonyms |
ETR-b, Sox10m1, ETb |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
104052061-104081838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 104058254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 350
(Y350D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022718]
[ENSMUST00000172237]
[ENSMUST00000227824]
|
| AlphaFold |
P48302 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022718
AA Change: Y350D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: Y350D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
109 |
329 |
2.3e-6 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
112 |
401 |
7.3e-11 |
PFAM |
|
Pfam:7tm_1
|
118 |
387 |
8.5e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172237
AA Change: Y350D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: Y350D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
109 |
328 |
1.9e-6 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
112 |
401 |
7.3e-11 |
PFAM |
|
Pfam:7tm_1
|
118 |
387 |
4.2e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227824
AA Change: Y350D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for null mutations have pigmentation limited to small patches on the head and rump and die from megacolon resulting from impaired neural crest migration and aganglionosis. Heterozygotes for a null allele show improved cardiac tolerance to hypoxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,799,862 (GRCm39) |
N558K |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,180,777 (GRCm39) |
H147R |
probably benign |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,849,842 (GRCm39) |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,571,352 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Or8k17 |
G |
T |
2: 86,066,304 (GRCm39) |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,449,255 (GRCm39) |
Y91F |
probably benign |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
probably benign |
Het |
|
| Other mutations in Ednrb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Ednrb
|
APN |
14 |
104,057,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01433:Ednrb
|
APN |
14 |
104,080,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01631:Ednrb
|
APN |
14 |
104,080,661 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01696:Ednrb
|
APN |
14 |
104,060,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02749:Ednrb
|
APN |
14 |
104,060,495 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03277:Ednrb
|
APN |
14 |
104,080,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
gus-gus
|
UTSW |
14 |
104,057,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pongo
|
UTSW |
14 |
104,060,710 (GRCm39) |
splice site |
probably null |
|
|
sposh
|
UTSW |
14 |
104,059,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0284:Ednrb
|
UTSW |
14 |
104,057,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Ednrb
|
UTSW |
14 |
104,060,710 (GRCm39) |
splice site |
probably null |
|
|
R2072:Ednrb
|
UTSW |
14 |
104,054,535 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2080:Ednrb
|
UTSW |
14 |
104,080,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Ednrb
|
UTSW |
14 |
104,058,350 (GRCm39) |
nonsense |
probably null |
|
|
R2118:Ednrb
|
UTSW |
14 |
104,059,204 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2119:Ednrb
|
UTSW |
14 |
104,059,204 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2124:Ednrb
|
UTSW |
14 |
104,059,204 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2851:Ednrb
|
UTSW |
14 |
104,059,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2852:Ednrb
|
UTSW |
14 |
104,059,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3708:Ednrb
|
UTSW |
14 |
104,054,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Ednrb
|
UTSW |
14 |
104,057,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5626:Ednrb
|
UTSW |
14 |
104,080,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5688:Ednrb
|
UTSW |
14 |
104,060,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Ednrb
|
UTSW |
14 |
104,059,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5834:Ednrb
|
UTSW |
14 |
104,058,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Ednrb
|
UTSW |
14 |
104,080,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7368:Ednrb
|
UTSW |
14 |
104,057,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7766:Ednrb
|
UTSW |
14 |
104,080,725 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7866:Ednrb
|
UTSW |
14 |
104,080,738 (GRCm39) |
missense |
probably benign |
|
|
R8170:Ednrb
|
UTSW |
14 |
104,060,640 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8220:Ednrb
|
UTSW |
14 |
104,059,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Ednrb
|
UTSW |
14 |
104,060,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Ednrb
|
UTSW |
14 |
104,057,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Ednrb
|
UTSW |
14 |
104,080,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9035:Ednrb
|
UTSW |
14 |
104,080,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9128:Ednrb
|
UTSW |
14 |
104,080,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Ednrb
|
UTSW |
14 |
104,080,459 (GRCm39) |
missense |
probably benign |
|
|
R9547:Ednrb
|
UTSW |
14 |
104,080,459 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation