Incidental Mutation 'R2080:Ednrb'
| ID |
229438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ednrb
|
| Ensembl Gene |
ENSMUSG00000022122 |
| Gene Name |
endothelin receptor type B |
| Synonyms |
ETR-b, Sox10m1, ETb |
| MMRRC Submission |
040085-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.716)
|
| Stock # |
R2080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
104052061-104081838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104080536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 126
(I126N)
|
| 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: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: I126N
| 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: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: I126N
| 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: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9320 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,792 (GRCm39) |
D183V |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,716,064 (GRCm39) |
D858E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,375,578 (GRCm39) |
T370A |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,351,743 (GRCm39) |
W449R |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,225,439 (GRCm39) |
I1179F |
probably benign |
Het |
| Atp10a |
C |
A |
7: 58,474,075 (GRCm39) |
Q1121K |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,928,548 (GRCm39) |
A123V |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,282,598 (GRCm39) |
K16E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,563,378 (GRCm39) |
D779N |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,007,962 (GRCm39) |
R123Q |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,550 (GRCm39) |
T282S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,787,692 (GRCm39) |
T948A |
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,675,045 (GRCm39) |
M250T |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,560,463 (GRCm39) |
I337L |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,960 (GRCm39) |
I219T |
probably benign |
Het |
| Gm13030 |
T |
C |
4: 138,600,730 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,980,810 (GRCm39) |
C637S |
probably benign |
Het |
| H1f1 |
A |
G |
13: 23,947,932 (GRCm39) |
N78S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,721,598 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,803,836 (GRCm39) |
V509A |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,559,715 (GRCm39) |
D981G |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,963,417 (GRCm39) |
E1164G |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,126,301 (GRCm39) |
V213E |
probably damaging |
Het |
| Masp1 |
T |
G |
16: 23,310,709 (GRCm39) |
D241A |
probably damaging |
Het |
| Mfsd13b |
A |
G |
7: 120,591,047 (GRCm39) |
I1V |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,423,491 (GRCm39) |
V4531A |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,065,767 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,358,041 (GRCm39) |
L1065P |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 15,140,219 (GRCm39) |
|
probably benign |
Het |
| Nemf |
A |
G |
12: 69,400,560 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
T |
13: 53,122,069 (GRCm39) |
D278E |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,829,631 (GRCm39) |
N393S |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,299,393 (GRCm39) |
M753K |
probably benign |
Het |
| Or13c3 |
T |
C |
4: 52,855,568 (GRCm39) |
Y315C |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,606 (GRCm39) |
V29E |
probably damaging |
Het |
| Or4k47 |
C |
T |
2: 111,452,084 (GRCm39) |
V112M |
probably benign |
Het |
| Or51f5 |
T |
C |
7: 102,424,450 (GRCm39) |
F240L |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,378 (GRCm39) |
S267T |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,624,989 (GRCm39) |
K262E |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,715,457 (GRCm39) |
|
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,741,744 (GRCm39) |
M406K |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,132,859 (GRCm39) |
Q286* |
probably null |
Het |
| Scube2 |
T |
C |
7: 109,407,712 (GRCm39) |
T743A |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,197,658 (GRCm39) |
L69* |
probably null |
Het |
| Tlk1 |
T |
A |
2: 70,568,789 (GRCm39) |
K404N |
probably damaging |
Het |
| Tmem59 |
C |
A |
4: 107,035,971 (GRCm39) |
L16I |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,612,826 (GRCm39) |
E426G |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,216,320 (GRCm39) |
S709T |
probably damaging |
Het |
| Yjefn3 |
T |
C |
8: 70,342,137 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp598 |
A |
C |
17: 24,898,641 (GRCm39) |
D480A |
probably damaging |
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 |
|
IGL01974:Ednrb
|
APN |
14 |
104,058,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTACAACCCCACCTTTG -3'
(R):5'- GGTAATGACGCCACCCACTAAG -3'
Sequencing Primer
(F):5'- ACCTTTGGTTTCCAGATCCTCAG -3'
(R):5'- AGAGGTTCCAACTCCAGTCTGATG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation