Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Ednrb'

687333

Institutional Source

Beutler Lab

Gene Symbol

Ednrb

Ensembl Gene

ENSMUSG00000022122

Gene Name

endothelin receptor type B

Synonyms

ETR-b, Sox10m1, ETb

MMRRC Submission

068864-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104052061-104081838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104080665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 83 (P83L)

Ref Sequence

ENSEMBL: ENSMUSP00000022718 (fasta)

Gene Model

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

AlphaFold

P48302

Predicted Effect

probably benign
Transcript: ENSMUST00000022718
AA Change: P83L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: P83L

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 benign
Transcript: ENSMUST00000172237
AA Change: P83L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: P83L

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 benign
Transcript: ENSMUST00000227824
AA Change: P83L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,461 (GRCm39)	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,510,460 (GRCm39)	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,693,167 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,963,842 (GRCm39)	V1784A	probably damaging	Het
Cabs1	T	C	5: 88,128,309 (GRCm39)	V320A	probably damaging	Het
Camta1	A	C	4: 151,229,159 (GRCm39)	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922 (GRCm39)	K466*	probably null	Het
Cdhr1	G	A	14: 36,810,924 (GRCm39)	P279L	possibly damaging	Het
Cenpe	A	G	3: 134,976,572 (GRCm39)	N2393S	probably benign	Het
Cep104	T	C	4: 154,063,462 (GRCm39)	V8A	probably benign	Het
Chaf1a	T	A	17: 56,371,110 (GRCm39)	V665E	probably damaging	Het
Clasp1	T	A	1: 118,431,583 (GRCm39)	D404E	probably damaging	Het
Clnk	G	A	5: 38,907,751 (GRCm39)	T169I	possibly damaging	Het
Cnst	G	A	1: 179,437,587 (GRCm39)	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,162 (GRCm39)	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,823,855 (GRCm39)	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,588,959 (GRCm39)	K572R	probably benign	Het
Dnai4	T	A	4: 102,905,499 (GRCm39)	K761*	probably null	Het
Dolk	C	A	2: 30,174,542 (GRCm39)	W501L	probably damaging	Het
Edrf1	T	C	7: 133,245,431 (GRCm39)	W190R	probably damaging	Het
Epha5	T	A	5: 84,255,886 (GRCm39)	D468V	probably damaging	Het
Fat2	G	T	11: 55,194,547 (GRCm39)	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,717,041 (GRCm39)	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,758,449 (GRCm39)	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,161,140 (GRCm39)	S557R	probably benign	Het
Gmip	A	T	8: 70,273,298 (GRCm39)	H863L	probably damaging	Het
Grm3	A	T	5: 9,620,464 (GRCm39)	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,566,511 (GRCm39)	P64S	probably benign	Het
Hand1	A	C	11: 57,722,548 (GRCm39)	M22R	probably benign	Het
Ift70b	T	C	2: 75,767,596 (GRCm39)	T386A	probably benign	Het
Igsf21	A	G	4: 139,884,782 (GRCm39)	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,578,637 (GRCm39)	R291*	probably null	Het
Itih4	C	G	14: 30,618,650 (GRCm39)	P687R	probably benign	Het
Kifc3	C	T	8: 95,853,195 (GRCm39)	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,524,010 (GRCm39)	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,518,708 (GRCm39)	R101S	unknown	Het
L3mbtl2	T	A	15: 81,560,744 (GRCm39)		probably benign	Het
Lcor	A	T	19: 41,573,399 (GRCm39)	H718L	probably benign	Het
Lrrc73	T	C	17: 46,565,293 (GRCm39)	I8T	probably damaging	Het
Med19	C	A	2: 84,516,532 (GRCm39)		probably benign	Het
Mgarp	C	T	3: 51,296,264 (GRCm39)	S246N	unknown	Het
Mkrn2	T	C	6: 115,594,681 (GRCm39)	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,926,279 (GRCm39)	R137H	unknown	Het
Myo1g	A	G	11: 6,464,916 (GRCm39)	Y453H	probably damaging	Het
Nacc2	C	A	2: 25,951,605 (GRCm39)	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,725,217 (GRCm39)	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,488,595 (GRCm39)	T580K	probably damaging	Het
Nobox	A	T	6: 43,284,522 (GRCm39)	D41E	probably damaging	Het
Nsd1	A	G	13: 55,393,667 (GRCm39)	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,246,873 (GRCm39)	M370V	probably benign	Het
Olfm5	T	A	7: 103,803,099 (GRCm39)	N455Y	probably damaging	Het
Or2g7	T	C	17: 38,378,179 (GRCm39)	V39A	probably benign	Het
Or4c101	T	A	2: 88,389,863 (GRCm39)	F6I	probably damaging	Het
Or52e19	T	C	7: 102,959,186 (GRCm39)	I86T	probably damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or8k33	T	A	2: 86,384,021 (GRCm39)	Y149F	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Pclo	A	T	5: 14,763,192 (GRCm39)	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,573,176 (GRCm39)	Q1910L	probably damaging	Het
Plg	C	A	17: 12,609,107 (GRCm39)	Y137*	probably null	Het
Prkra	T	C	2: 76,460,856 (GRCm39)	I281V	probably benign	Het
Prrc2c	A	C	1: 162,503,295 (GRCm39)	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,279,149 (GRCm39)	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,708,290 (GRCm39)	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772 (GRCm38)	Y17N	possibly damaging	Het
Ryr1	A	T	7: 28,790,422 (GRCm39)	H1468Q	probably damaging	Het
Scp2	C	T	4: 107,912,717 (GRCm39)	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,080,381 (GRCm39)	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,782,238 (GRCm39)	S34G	probably benign	Het
Shisa9	T	A	16: 11,802,902 (GRCm39)	I153N	probably damaging	Het
Sin3b	C	A	8: 73,450,092 (GRCm39)	P3H	unknown	Het
Slc15a2	C	A	16: 36,602,719 (GRCm39)	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,726,586 (GRCm39)	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,909,187 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,476 (GRCm39)	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491 (GRCm39)	Q460K	probably benign	Het
Tlr11	A	T	14: 50,598,434 (GRCm39)	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945 (GRCm39)	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384 (GRCm39)		probably benign	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tpm1	A	G	9: 66,955,138 (GRCm39)	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,043,723 (GRCm39)		probably benign	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Ttn	T	C	2: 76,593,061 (GRCm39)	T20730A	possibly damaging	Het
Uap1	A	T	1: 169,977,013 (GRCm39)	Y395*	probably null	Het
Usp2	A	T	9: 43,987,176 (GRCm39)	D158V	probably damaging	Het
Usp30	A	G	5: 114,243,877 (GRCm39)	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,024,172 (GRCm39)	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,261,479 (GRCm39)	V286A	probably benign	Het
Xdh	T	C	17: 74,217,222 (GRCm39)	H682R	probably benign	Het
Zbed3	T	A	13: 95,472,999 (GRCm39)	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,820,162 (GRCm39)	C373R	possibly 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
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
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'- AGATATTGGGACCATTGCGC -3'
(R):5'- AAGCTGTAACATGCAATCGCC -3'

Sequencing Primer
(F):5'- CATGCACTTGTTCTTGTAGATGATTC -3'
(R):5'- TGCAATCGCCCGCAAGC -3'

Posted On

2021-11-19