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

ETR-b, Sox10m1, ETb

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104052061-104081838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104058313 bp (GRCm39)

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
Abca13	T	C	11: 9,227,974 (GRCm39)		probably null	Het
Adamts20	A	C	15: 94,251,465 (GRCm39)	S441A	probably damaging	Het
Aen	T	A	7: 78,557,049 (GRCm39)	M299K	probably damaging	Het
Akap3	T	C	6: 126,842,796 (GRCm39)	S472P	probably benign	Het
Ank3	T	G	10: 69,658,087 (GRCm39)	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,622,955 (GRCm39)	D324G	probably benign	Het
Aste1	A	T	9: 105,280,614 (GRCm39)	R448S	probably benign	Het
Atp10a	T	A	7: 58,308,366 (GRCm39)	L55Q	probably benign	Het
C1qtnf9	G	A	14: 61,016,899 (GRCm39)	G143D	probably damaging	Het
Camsap2	A	G	1: 136,208,126 (GRCm39)	V1122A	probably benign	Het
Cbl	T	C	9: 44,145,076 (GRCm39)	H37R	probably damaging	Het
Cfap61	A	C	2: 145,971,069 (GRCm39)	D893A	probably benign	Het
Chd2	T	A	7: 73,128,463 (GRCm39)	I841F	probably damaging	Het
Chd9	A	G	8: 91,723,792 (GRCm39)	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,896,391 (GRCm39)	Y1028H	probably benign	Het
Crybg2	A	G	4: 133,801,434 (GRCm39)	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,030,511 (GRCm39)	I448V	probably benign	Het
Cyth1	T	A	11: 118,083,289 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 39,007,037 (GRCm39)	R324*	probably null	Het
Dhx37	C	A	5: 125,502,794 (GRCm39)	R42L	probably damaging	Het
Dock1	T	A	7: 134,365,662 (GRCm39)	V450E	probably damaging	Het
Eml4	T	A	17: 83,785,170 (GRCm39)	H778Q	probably damaging	Het
Evx1	T	A	6: 52,292,975 (GRCm39)	I227N	probably damaging	Het
G3bp1	T	A	11: 55,388,766 (GRCm39)	V326E	probably benign	Het
Gata2	T	C	6: 88,177,729 (GRCm39)	V253A	probably benign	Het
Gbp2	A	G	3: 142,339,138 (GRCm39)	N397D	probably damaging	Het
Gm14401	C	A	2: 176,778,696 (GRCm39)	H261N	probably benign	Het
Hacd4	A	T	4: 88,316,389 (GRCm39)	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,760,255 (GRCm39)	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ift27	A	T	15: 78,049,443 (GRCm39)	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Irs3	T	A	5: 137,642,821 (GRCm39)	S206C	probably damaging	Het
Lefty2	C	T	1: 180,720,716 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,590,921 (GRCm39)	I162V	probably damaging	Het
Matcap1	G	A	8: 106,008,755 (GRCm39)	Q421*	probably null	Het
Mefv	A	C	16: 3,533,910 (GRCm39)	D120E	probably damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mre11a	A	G	9: 14,710,953 (GRCm39)	I45V	probably benign	Het
Mtor	A	G	4: 148,620,993 (GRCm39)	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,460,144 (GRCm39)	M393R	probably benign	Het
Nod2	T	C	8: 89,391,267 (GRCm39)	S510P	possibly damaging	Het
Nos2	C	T	11: 78,819,405 (GRCm39)	T39I	probably benign	Het
Or2h1b	A	T	17: 37,462,690 (GRCm39)	Y58N	probably damaging	Het
Or5p54	T	A	7: 107,554,113 (GRCm39)	H88Q	probably benign	Het
Pcdh7	A	G	5: 57,878,970 (GRCm39)	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Plaa	A	C	4: 94,471,706 (GRCm39)	V10G	probably damaging	Het
Pprc1	T	A	19: 46,053,659 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,402,189 (GRCm39)	Y994C	probably damaging	Het
Ripply2	T	A	9: 86,897,943 (GRCm39)	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,395,839 (GRCm39)	D1227G	probably damaging	Het
Scoc	C	T	8: 84,164,260 (GRCm39)	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,745,099 (GRCm39)	I732N	probably damaging	Het
Six2	T	C	17: 85,995,092 (GRCm39)	K97E	probably damaging	Het
Slit2	A	C	5: 48,416,989 (GRCm39)	N1014H	probably damaging	Het
Smc1b	A	C	15: 84,973,866 (GRCm39)	L930R	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Spata31	C	T	13: 65,070,480 (GRCm39)	S876L	probably benign	Het
Spen	A	G	4: 141,199,154 (GRCm39)	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,012,363 (GRCm39)		probably null	Het
Stk3	G	A	15: 34,959,164 (GRCm39)	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,876 (GRCm39)	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,454,169 (GRCm39)	M212T	probably damaging	Het
Trpc7	A	G	13: 56,923,971 (GRCm39)	L738P	probably damaging	Het
Ttll8	A	G	15: 88,801,449 (GRCm39)	V413A	possibly damaging	Het
Usb1	G	A	8: 96,060,161 (GRCm39)		probably benign	Het
Vmn1r238	T	C	18: 3,123,168 (GRCm39)	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,529,599 (GRCm39)	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 41,765,932 (GRCm39)	P13H	probably benign	Het
Wdr26	A	G	1: 181,030,712 (GRCm39)	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,310,787 (GRCm39)	Q636*	probably null	Het
Zfyve26	A	G	12: 79,313,311 (GRCm39)	Y25H	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
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
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'- AGCAGCTGGATGACAATTCC -3'
(R):5'- AACATGAGCCACTGTGGAGG -3'

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

Posted On

2016-12-20