Mutagenetix > Incidental Mutation

Incidental Mutation 'R9128:Ednrb'

693428

Institutional Source

Beutler Lab

Gene Symbol

Ednrb

Ensembl Gene

ENSMUSG00000022122

Gene Name

endothelin receptor type B

Synonyms

ETR-b, Sox10m1, ETb

MMRRC Submission

068927-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R9128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104052061-104081838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104080528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 129 (N129D)

Ref Sequence

ENSEMBL: ENSMUSP00000022718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022718] [ENSMUST00000172237] [ENSMUST00000227824]

AlphaFold

P48302

Predicted Effect

probably damaging
Transcript: ENSMUST00000022718
AA Change: N129D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: N129D

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: N129D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: N129D

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: N129D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,352 (GRCm39)	V542A	possibly damaging	Het
Abhd8	G	T	8: 71,914,389 (GRCm39)	R80S	probably benign	Het
Actc1	T	C	2: 113,880,946 (GRCm39)	Y93C	possibly damaging	Het
Actn4	G	T	7: 28,593,929 (GRCm39)	D859E	possibly damaging	Het
Adcy2	C	T	13: 68,773,927 (GRCm39)	G1039R	probably damaging	Het
Als2	A	G	1: 59,219,709 (GRCm39)	M1202T	probably benign	Het
Aste1	T	A	9: 105,273,908 (GRCm39)	Y49*	probably null	Het
Atp8b4	T	C	2: 126,234,750 (GRCm39)	D422G	probably benign	Het
Bag6	T	A	17: 35,363,688 (GRCm39)	S791T	probably damaging	Het
Bivm	T	A	1: 44,167,949 (GRCm39)	W222R	probably null	Het
Bod1l	A	C	5: 41,946,266 (GRCm39)	V3003G	probably benign	Het
Bsn	T	C	9: 107,993,349 (GRCm39)	D801G	probably benign	Het
Ccdc14	G	A	16: 34,527,159 (GRCm39)	D403N	probably damaging	Het
Cenpj	T	A	14: 56,780,319 (GRCm39)	E964V	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clca3a1	G	A	3: 144,463,795 (GRCm39)	R161W	probably damaging	Het
Dcxr	A	T	11: 120,617,372 (GRCm39)	V57E		Het
Dnah17	T	G	11: 117,937,004 (GRCm39)	N3400T	possibly damaging	Het
Dnaja3	C	T	16: 4,520,164 (GRCm39)	T444I	possibly damaging	Het
Dop1a	T	C	9: 86,395,208 (GRCm39)	S772P	probably benign	Het
Ep300	T	A	15: 81,533,946 (GRCm39)	M2001K	unknown	Het
Fam3b	A	G	16: 97,302,200 (GRCm39)	I8T	probably benign	Het
Fam98c	A	T	7: 28,854,115 (GRCm39)	S85T		Het
Fat1	G	A	8: 45,462,878 (GRCm39)	V1232I	probably benign	Het
Fzd3	T	A	14: 65,449,626 (GRCm39)	Y484F	probably damaging	Het
H3f3a	T	C	1: 180,630,660 (GRCm39)	I131M	possibly damaging	Het
Ifi206	A	T	1: 173,299,022 (GRCm39)	D861E	unknown	Het
Ihh	T	C	1: 74,985,498 (GRCm39)	Y329C	probably damaging	Het
Jak2	A	G	19: 29,278,462 (GRCm39)	N909D	probably damaging	Het
Krtap12-1	C	A	10: 77,556,623 (GRCm39)	C55*	probably null	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mreg	T	C	1: 72,231,216 (GRCm39)	T81A	probably benign	Het
Muc16	T	C	9: 18,558,878 (GRCm39)	T2472A	unknown	Het
Nanos3	A	T	8: 84,903,080 (GRCm39)	D27E	probably benign	Het
Nox3	T	G	17: 3,720,136 (GRCm39)	S350R	probably damaging	Het
Or4m1	A	G	14: 50,558,214 (GRCm39)	V26A	probably benign	Het
Or8k18	T	A	2: 86,086,022 (GRCm39)	N5I	probably damaging	Het
Pafah2	C	T	4: 134,147,281 (GRCm39)	T310M	probably damaging	Het
Pals1	A	G	12: 78,843,832 (GRCm39)	E12G	probably benign	Het
Pianp	A	G	6: 124,977,658 (GRCm39)	I185V	probably benign	Het
Pja2	T	C	17: 64,616,470 (GRCm39)	T142A	probably benign	Het
Poln	G	A	5: 34,171,658 (GRCm39)	P747L	probably damaging	Het
Pramel25	T	A	4: 143,520,178 (GRCm39)	S141T	probably benign	Het
Rdx	T	A	9: 51,976,179 (GRCm39)	L39*	probably null	Het
Rnf146	A	G	10: 29,223,539 (GRCm39)	W116R	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,087,810 (GRCm39)	T224A	probably benign	Het
Serpinb9	T	A	13: 33,190,686 (GRCm39)	I54K	possibly damaging	Het
Slc25a13	A	T	6: 6,109,987 (GRCm39)	L324Q	probably null	Het
Slc9c1	T	C	16: 45,400,490 (GRCm39)	L700P	probably benign	Het
Snta1	T	C	2: 154,222,856 (GRCm39)	K289R	probably benign	Het
Sppl2a	A	G	2: 126,765,393 (GRCm39)	F243S	probably damaging	Het
Syne1	T	C	10: 5,058,556 (GRCm39)	E7319G	probably benign	Het
Taf5l	G	A	8: 124,730,014 (GRCm39)	P225L	probably benign	Het
Tet2	A	T	3: 133,175,374 (GRCm39)	N1324K	possibly damaging	Het
Usp5	A	T	6: 124,800,414 (GRCm39)		probably null	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vps16	A	G	2: 130,266,319 (GRCm39)	D2G	possibly damaging	Het
Vwf	T	C	6: 125,619,693 (GRCm39)	L1457P		Het
Xpo1	A	G	11: 23,235,058 (GRCm39)	T576A	probably damaging	Het
Zdhhc6	A	T	19: 55,301,680 (GRCm39)	Y100*	probably null	Het
Zfp534	T	A	4: 147,760,082 (GRCm39)	R196*	probably null	Het
Zfp710	C	T	7: 79,731,122 (GRCm39)	R100W	probably damaging	Het
Zfp750	T	C	11: 121,404,674 (GRCm39)	K67R	probably benign	Het
Zmynd10	T	C	9: 107,426,326 (GRCm39)	S158P		Het
Zmynd8	A	T	2: 165,700,058 (GRCm39)	M1K	probably null	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
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
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'- GATTGCCACTTTACCACTCAGC -3'
(R):5'- TGGACCAGAGGTTCCAACTC -3'

Sequencing Primer
(F):5'- AGCTTACAACCCCACCTTTGG -3'
(R):5'- AGAGGTTCCAACTCCAGTCTGATG -3'

Posted On

2022-01-20