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

ETb, ETR-b, Sox10m1

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.727) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103814625-103844402 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103817099 bp (GRCm38)

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: 63,898,737	R272P	possibly damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ablim3	A	T	18: 61,857,088	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Adamts13	C	A	2: 27,005,425	T1176N	probably benign	Het
Adgre5	T	C	8: 83,727,804	T357A	probably benign	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,119,636	V310A	probably benign	Het
Bnipl	C	T	3: 95,244,211	G232E	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Cacna1s	G	A	1: 136,079,504	V173I	probably benign	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chrdl1	T	C	X: 143,303,418	I231V	probably benign	Het
Ciita	C	T	16: 10,518,353	T958I	probably benign	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,101,741	D240G	probably damaging	Het
Ddx58	A	T	4: 40,224,069		probably null	Het
Dlgap1	C	T	17: 70,662,770	R524C	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,275,252	M453V	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Fez1	A	G	9: 36,867,945	K306R	probably benign	Het
Fmo4	A	G	1: 162,809,887	V12A	probably benign	Het
Fpgt	T	C	3: 155,087,874	Y172C	probably damaging	Het
Fsip2	T	A	2: 83,008,815	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477	R205*	probably null	Het
Grik5	A	T	7: 25,015,313	M752K	possibly damaging	Het
Herc2	A	G	7: 56,226,964	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,592,545	D439V	probably damaging	Het
Igsf3	A	G	3: 101,439,515	T609A	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
Lgi2	A	G	5: 52,538,505	S371P	probably damaging	Het
March3	A	T	18: 56,811,853	V56E	possibly damaging	Het
Mib2	T	C	4: 155,659,701	D168G	probably damaging	Het
Nhs	T	A	X: 161,842,721	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,325,006	S683P	probably damaging	Het
Olfr1260	C	A	2: 89,978,213	T145K	probably benign	Het
Olfr1454	A	T	19: 13,063,680	M90L	probably benign	Het
Olfr527	T	C	7: 140,336,653	S264P	possibly damaging	Het
Onecut3	T	G	10: 80,495,014	L3V	unknown	Het
Otogl	C	T	10: 107,781,043	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,430,262	V128A	possibly damaging	Het
Pcnx2	A	T	8: 125,761,742	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,819	L955P	probably damaging	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,558,639	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,158,451	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,787,348		probably null	Het
Prune1	C	T	3: 95,255,408	R318Q	probably benign	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Psg27	A	G	7: 18,565,009	L129P	probably benign	Het
Psmc6	A	G	14: 45,329,866	K7E	possibly damaging	Het
Reln	A	T	5: 21,919,177	V2777E	probably damaging	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Slc5a5	C	T	8: 70,892,439	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smg1	T	C	7: 118,163,166		probably benign	Het
Smurf2	T	A	11: 106,841,769	Q335L	probably benign	Het
Sspo	A	T	6: 48,473,517	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,049	M256V	possibly damaging	Het
Syt1	A	G	10: 108,583,972	I276T	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar9	A	T	10: 24,108,979	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,882,965	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,458,867	T1091A	probably benign	Het
Ttn	G	T	2: 76,937,776	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,779,571		probably null	Het
Ube3c	A	G	5: 29,635,640	E671G	probably benign	Het
Upf3a	A	G	8: 13,785,850	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,275,072	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,922,452	R549*	probably null	Het
Zfp37	A	T	4: 62,191,708	M411K	probably damaging	Het
Zfp747	T	A	7: 127,373,970	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,289,382	Q161L	unknown	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
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
R5834:Ednrb	UTSW	14	103820877	missense	probably damaging	1.00
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'- CCCGTGAATATATCCGGTGTTGAG -3'
(R):5'- TGCAAGGATAGTCAGAGCCC -3'

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

Posted On

2014-09-17