Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Ednrb'

227263

Institutional Source

Beutler Lab

Gene Symbol

Ednrb

Ensembl Gene

ENSMUSG00000022122

Gene Name

endothelin receptor type B

Synonyms

ETR-b, Sox10m1, ETb

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.670) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104052061-104081838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104054535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 432 (N432K)

Ref Sequence

ENSEMBL: ENSMUSP00000154806 (fasta)

Gene Model

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

AlphaFold

P48302

Predicted Effect

probably benign
Transcript: ENSMUST00000022718
AA Change: N432K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: N432K

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: N432K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: N432K

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: N432K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Ciita	C	T	16: 10,336,217 (GRCm39)	T958I	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Psmc6	A	G	14: 45,567,323 (GRCm39)	K7E	possibly damaging	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Smurf2	T	A	11: 106,732,595 (GRCm39)	Q335L	probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	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
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
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'- CCCGTGAATATATCCGGTGTTGAG -3'
(R):5'- TGCAAGGATAGTCAGAGCCC -3'

Sequencing Primer
(F):5'- ATATCCGGTGTTGAGCGTCAGAAC -3'
(R):5'- ATAGTCAGAGCCCCAGCG -3'

Posted On

2014-09-17