Mutagenetix > Incidental Mutation

Incidental Mutation 'R5688:Ednrb'

443530

Institutional Source

Beutler Lab

Gene Symbol

Ednrb

Ensembl Gene

ENSMUSG00000022122

Gene Name

endothelin receptor type B

Synonyms

ETR-b, Sox10m1, ETb

MMRRC Submission

043321-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104052061-104081838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104060831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 198 (D198G)

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: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: D198G

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: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: D198G

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: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,315,920 (GRCm39)	A222V	probably benign	Het
Ahnak	A	G	19: 8,979,883 (GRCm39)	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,337,789 (GRCm39)	S559T	possibly damaging	Het
Alms1	T	A	6: 85,576,877 (GRCm39)	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868 (GRCm39)		probably null	Het
Atf7	C	T	15: 102,459,944 (GRCm39)	R57H	probably damaging	Het
Atp10b	A	T	11: 43,092,000 (GRCm39)	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,563,950 (GRCm39)	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730 (GRCm39)		probably null	Het
Cd248	A	G	19: 5,119,963 (GRCm39)	T604A	probably benign	Het
Cemip	C	T	7: 83,610,849 (GRCm39)	V702M	probably damaging	Het
Cep295	G	T	9: 15,243,282 (GRCm39)	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,427 (GRCm39)	W485R	probably damaging	Het
Cpe	T	C	8: 65,062,189 (GRCm39)	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,233,358 (GRCm39)	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb7	T	G	8: 19,545,167 (GRCm39)	L15R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Engase	A	C	11: 118,378,146 (GRCm39)	E312A	possibly damaging	Het
Evl	G	A	12: 108,639,612 (GRCm39)		probably null	Het
Faf1	C	A	4: 109,652,010 (GRCm39)	Q234K	probably damaging	Het
Garre1	T	A	7: 33,953,416 (GRCm39)	T449S	possibly damaging	Het
Garre1	T	G	7: 33,984,134 (GRCm39)	D163A	probably damaging	Het
Gm5460	C	A	14: 33,767,752 (GRCm39)	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,220,869 (GRCm39)	I387F	possibly damaging	Het
H1f2	A	G	13: 23,923,148 (GRCm39)	K106R	probably damaging	Het
Hagh	T	C	17: 25,069,568 (GRCm39)	M1T	probably null	Het
Hars1	A	T	18: 36,905,369 (GRCm39)	V155E	probably damaging	Het
Lca5	C	A	9: 83,280,619 (GRCm39)	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,440,834 (GRCm39)	L280P	probably damaging	Het
Lrit1	C	T	14: 36,784,385 (GRCm39)	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,396,836 (GRCm39)	P584H	probably damaging	Het
Mgst1	T	C	6: 138,118,798 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,009,590 (GRCm39)	C936*	probably null	Het
Neb	C	T	2: 52,086,339 (GRCm39)	V5245I	probably damaging	Het
Oas3	T	C	5: 120,896,867 (GRCm39)	N918S	probably benign	Het
Or4c106	C	T	2: 88,683,023 (GRCm39)	T243I	probably benign	Het
Or5d16	T	A	2: 87,773,552 (GRCm39)	Q140L	probably benign	Het
Or8b8	A	C	9: 37,809,359 (GRCm39)	I220L	possibly damaging	Het
Ovch2	A	G	7: 107,393,201 (GRCm39)	L224P	probably damaging	Het
Patj	A	T	4: 98,409,047 (GRCm39)	K34*	probably null	Het
Pcf11	T	A	7: 92,308,016 (GRCm39)	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,177,400 (GRCm39)	E577D	probably benign	Het
Plxnb2	T	C	15: 89,042,899 (GRCm39)	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,299,266 (GRCm39)	L141I	probably damaging	Het
Rhobtb3	G	T	13: 76,020,537 (GRCm39)	N588K	probably benign	Het
Rnasel	G	A	1: 153,629,452 (GRCm39)		probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shank1	A	T	7: 44,003,911 (GRCm39)	I1868F	possibly damaging	Het
Slc28a3	A	T	13: 58,706,463 (GRCm39)	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,699,853 (GRCm39)	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,518,775 (GRCm39)	P502L	probably benign	Het
Slco6d1	T	C	1: 98,408,493 (GRCm39)	I463T	probably damaging	Het
Slk	A	G	19: 47,608,451 (GRCm39)	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,874,322 (GRCm39)	P1071Q	probably damaging	Het
Tert	G	A	13: 73,787,275 (GRCm39)	V754I	probably damaging	Het
Thada	T	C	17: 84,759,155 (GRCm39)	T235A	probably benign	Het
Ttn	T	C	2: 76,564,472 (GRCm39)	D28555G	probably damaging	Het
Ttn	T	A	2: 76,710,328 (GRCm39)		probably null	Het
Ubqln4	T	C	3: 88,472,575 (GRCm39)	L464P	probably damaging	Het
Unc45b	A	T	11: 82,813,643 (GRCm39)	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,589,900 (GRCm39)	D672G	probably benign	Het
Zfp947	T	A	17: 22,365,066 (GRCm39)	I203L	probably benign	Het
Zfp964	T	A	8: 70,116,766 (GRCm39)	H454Q	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
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
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
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'- TCCTTTAATTCGACTCCAAGAAGC -3'
(R):5'- TTGGACACAGGTGCCTTTTC -3'

Sequencing Primer
(F):5'- AGCAACAGCTCGATATCTGAAG -3'
(R):5'- CGTTAATCACCGGCACTCAGTG -3'

Posted On

2016-11-09