Incidental Mutation 'R0591:Ednrb'
ID 56003
Institutional Source Beutler Lab
Gene Symbol Ednrb
Ensembl Gene ENSMUSG00000022122
Gene Name endothelin receptor type B
Synonyms ETR-b, Sox10m1, ETb
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R0591 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 104052061-104081838 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 104060710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022718] [ENSMUST00000172237] [ENSMUST00000227824]
AlphaFold P48302
Predicted Effect probably null
Transcript: ENSMUST00000022718
SMART Domains Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000172237
SMART Domains Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000227824
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Agt A T 8: 125,283,678 (GRCm39) S480R possibly damaging Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably damaging Het
Other mutations in Ednrb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCAAAGTGAACGTACCTGCATGAAG -3'
(R):5'- TTAATCACCGGCACTCAGTGCTC -3'

Sequencing Primer
(F):5'- CATGAAGGCTGTTTTCTGAAAGG -3'
(R):5'- AAGCTGGTGCCCTTCATACAG -3'
Posted On 2013-07-11