Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Ednrb'

449497

Institutional Source

Beutler Lab

Gene Symbol

Ednrb

Ensembl Gene

ENSMUSG00000022122

Gene Name

endothelin receptor type B

Synonyms

ETb, ETR-b, Sox10m1

MMRRC Submission

044055-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.792) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103814625-103844402 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103820877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 330 (L330P)

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: L330P

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

SMART Domains

Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: L330P

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: L330P

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

SMART Domains

Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: L330P

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: L330P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	A	8: 105,282,123	Q421*	probably null	Het
Abca13	T	C	11: 9,277,974		probably null	Het
Adamts20	A	C	15: 94,353,584	S441A	probably damaging	Het
Aen	T	A	7: 78,907,301	M299K	probably damaging	Het
Akap3	T	C	6: 126,865,833	S472P	probably benign	Het
Ank3	T	G	10: 69,822,257	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,981,162	D324G	probably benign	Het
Aste1	A	T	9: 105,403,415	R448S	probably benign	Het
Atp10a	T	A	7: 58,658,618	L55Q	probably benign	Het
C1qtnf9	G	A	14: 60,779,450	G143D	probably damaging	Het
Camsap2	A	G	1: 136,280,388	V1122A	probably benign	Het
Cbl	T	C	9: 44,233,779	H37R	probably damaging	Het
Cfap61	A	C	2: 146,129,149	D893A	probably benign	Het
Chd2	T	A	7: 73,478,715	I841F	probably damaging	Het
Chd9	A	G	8: 90,997,164	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,748,577	Y1028H	probably benign	Het
Crybg2	A	G	4: 134,074,123	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,042,067	I448V	probably benign	Het
Cyth1	T	A	11: 118,192,463		probably null	Het
Dcaf13	C	T	15: 39,143,642	R324*	probably null	Het
Dhx37	C	A	5: 125,425,730	R42L	probably damaging	Het
Dock1	T	A	7: 134,763,933	V450E	probably damaging	Het
Eml4	T	A	17: 83,477,741	H778Q	probably damaging	Het
Evx1	T	A	6: 52,315,990	I227N	probably damaging	Het
G3bp1	T	A	11: 55,497,940	V326E	probably benign	Het
Gata2	T	C	6: 88,200,747	V253A	probably benign	Het
Gbp2	A	G	3: 142,633,377	N397D	probably damaging	Het
Gm14401	C	A	2: 177,086,903	H261N	probably benign	Het
Hacd4	A	T	4: 88,398,152	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,852,939	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ift27	A	T	15: 78,165,243	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Irs3	T	A	5: 137,644,559	S206C	probably damaging	Het
Lefty2	C	T	1: 180,893,151		probably benign	Het
Mark3	A	G	12: 111,624,487	I162V	probably damaging	Het
Mefv	A	C	16: 3,716,046	D120E	probably damaging	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Mre11a	A	G	9: 14,799,657	I45V	probably benign	Het
Mtor	A	G	4: 148,536,536	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,532,406	M393R	probably benign	Het
Nod2	T	C	8: 88,664,639	S510P	possibly damaging	Het
Nos2	C	T	11: 78,928,579	T39I	probably benign	Het
Olfr474	T	A	7: 107,954,906	H88Q	probably benign	Het
Olfr93	A	T	17: 37,151,799	Y58N	probably damaging	Het
Pcdh7	A	G	5: 57,721,628	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,012,623	V589A	probably damaging	Het
Plaa	A	C	4: 94,583,469	V10G	probably damaging	Het
Pprc1	T	A	19: 46,065,220		probably benign	Het
Ptprt	T	C	2: 161,560,269	Y994C	probably damaging	Het
Ripply2	T	A	9: 87,015,890	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,158,382	D1227G	probably damaging	Het
Scoc	C	T	8: 83,437,631	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,854,273	I732N	probably damaging	Het
Six2	T	C	17: 85,687,664	K97E	probably damaging	Het
Slit2	A	C	5: 48,259,647	N1014H	probably damaging	Het
Smc1b	A	C	15: 85,089,665	L930R	probably damaging	Het
Spag16	T	A	1: 69,923,714	M340K	probably benign	Het
Spata31	C	T	13: 64,922,666	S876L	probably benign	Het
Spen	A	G	4: 141,471,843	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,184,797		probably null	Het
Stk3	G	A	15: 34,959,018	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,877	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,306,310	M212T	probably damaging	Het
Trpc7	A	G	13: 56,776,158	L738P	probably damaging	Het
Ttll8	A	G	15: 88,917,246	V413A	possibly damaging	Het
Usb1	G	A	8: 95,333,533		probably benign	Het
Vmn1r238	T	C	18: 3,123,168	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,310,625	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 42,116,508	P13H	probably benign	Het
Wdr26	A	G	1: 181,203,147	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,073,330	Q636*	probably null	Het
Zfyve26	A	G	12: 79,266,537	Y25H	probably benign	Het

Other mutations in Ednrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Ednrb	APN	14	103820019	missense	probably damaging	1.00
IGL01433:Ednrb	APN	14	103843190	missense	probably damaging	0.98
IGL01631:Ednrb	APN	14	103843225	missense	probably benign	0.02
IGL01696:Ednrb	APN	14	103823189	missense	probably benign	0.00
IGL01974:Ednrb	APN	14	103820818	missense	probably damaging	1.00
IGL02749:Ednrb	APN	14	103823059	missense	possibly damaging	0.63
IGL03277:Ednrb	APN	14	103843299	missense	probably benign	0.00
gus-gus	UTSW	14	103820013	missense	probably damaging	1.00
pongo	UTSW	14	103823274	splice site	probably null
sposh	UTSW	14	103821714	missense	probably damaging	0.97
R0284:Ednrb	UTSW	14	103820013	missense	probably damaging	1.00
R0591:Ednrb	UTSW	14	103823274	splice site	probably null
R2072:Ednrb	UTSW	14	103817099	missense	probably benign	0.27
R2080:Ednrb	UTSW	14	103843100	missense	probably damaging	1.00
R2102:Ednrb	UTSW	14	103820914	nonsense	probably null
R2118:Ednrb	UTSW	14	103821768	missense	probably benign	0.42
R2119:Ednrb	UTSW	14	103821768	missense	probably benign	0.42
R2124:Ednrb	UTSW	14	103821768	missense	probably benign	0.42
R2851:Ednrb	UTSW	14	103821674	missense	probably benign	0.04
R2852:Ednrb	UTSW	14	103821674	missense	probably benign	0.04
R3708:Ednrb	UTSW	14	103817080	missense	probably damaging	1.00
R4887:Ednrb	UTSW	14	103820011	missense	possibly damaging	0.95
R5626:Ednrb	UTSW	14	103843128	missense	probably damaging	0.98
R5688:Ednrb	UTSW	14	103823395	missense	probably damaging	1.00
R5802:Ednrb	UTSW	14	103821714	missense	probably damaging	0.97
R7212:Ednrb	UTSW	14	103843008	missense	probably damaging	0.96
R7368:Ednrb	UTSW	14	103820017	missense	probably benign	0.01
R7766:Ednrb	UTSW	14	103843289	missense	probably benign	0.12
R7866:Ednrb	UTSW	14	103843302	missense	probably benign
R8170:Ednrb	UTSW	14	103823204	missense	possibly damaging	0.92
R8220:Ednrb	UTSW	14	103821705	missense	probably damaging	1.00
R8299:Ednrb	UTSW	14	103823500	missense	probably damaging	1.00
R8375:Ednrb	UTSW	14	103819947	missense	probably damaging	1.00
R8431:Ednrb	UTSW	14	103843197	missense	probably benign	0.00
R9035:Ednrb	UTSW	14	103843229	missense	probably benign	0.00
R9128:Ednrb	UTSW	14	103843092	missense	probably damaging	1.00
R9546:Ednrb	UTSW	14	103843023	missense	probably benign
R9547:Ednrb	UTSW	14	103843023	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAGCTGGATGACAATTCC -3'
(R):5'- AACATGAGCCACTGTGGAGG -3'

Sequencing Primer
(F):5'- CTCTTTCAATCTAAGTTAGCACAGG -3'
(R):5'- CCACTGTGGAGGTACTTGTACTAGC -3'

Posted On

2016-12-20