Incidental Mutation 'R7212:Ednrb'
ID 561172
Institutional Source Beutler Lab
Gene Symbol Ednrb
Ensembl Gene ENSMUSG00000022122
Gene Name endothelin receptor type B
Synonyms ETR-b, Sox10m1, ETb
MMRRC Submission 045340-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R7212 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 104052061-104081838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104080444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 157 (I157F)
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: I157F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: I157F

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 damaging
Transcript: ENSMUST00000172237
AA Change: I157F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: I157F

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 damaging
Transcript: ENSMUST00000227824
AA Change: I157F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.3269 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik C T 6: 83,138,654 (GRCm39) A193V probably benign Het
Aatf C T 11: 84,340,006 (GRCm39) R435Q probably damaging Het
Abca13 A G 11: 9,248,854 (GRCm39) H2867R probably benign Het
Abcd2 C T 15: 91,043,326 (GRCm39) A621T possibly damaging Het
Actl11 T A 9: 107,805,856 (GRCm39) S60T probably damaging Het
Adam28 T A 14: 68,874,846 (GRCm39) N277I probably damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Arhgap27 C T 11: 103,251,581 (GRCm39) R49Q probably damaging Het
Armc10 T C 5: 21,865,581 (GRCm39) S209P probably damaging Het
Atp6v0a1 T C 11: 100,934,783 (GRCm39) F617L probably benign Het
Bap1 T A 14: 30,973,580 (GRCm39) N2K probably damaging Het
Bltp1 C A 3: 37,102,158 (GRCm39) N1363K Het
Cass4 T A 2: 172,269,106 (GRCm39) L396* probably null Het
Ccdc40 A G 11: 119,155,270 (GRCm39) Q1170R probably damaging Het
Cdhr5 C T 7: 140,852,572 (GRCm39) R348H probably damaging Het
Cenpj A G 14: 56,790,109 (GRCm39) S647P probably benign Het
Chordc1 T A 9: 18,206,647 (GRCm39) probably null Het
Chordc1 T C 9: 18,212,308 (GRCm39) S41P probably damaging Het
Ckm T C 7: 19,148,978 (GRCm39) probably null Het
Clca3a1 A C 3: 144,711,727 (GRCm39) I756S probably damaging Het
Clcn1 T C 6: 42,268,323 (GRCm39) V165A possibly damaging Het
Clec4a4 T A 6: 122,968,704 (GRCm39) probably null Het
Cog7 T C 7: 121,576,537 (GRCm39) K130E probably damaging Het
Coq7 A G 7: 118,109,271 (GRCm39) I259T unknown Het
Cp T C 3: 20,029,130 (GRCm39) S536P probably damaging Het
Cyp2d10 T A 15: 82,288,447 (GRCm39) probably null Het
Dcst2 A G 3: 89,273,607 (GRCm39) I162V probably benign Het
Dennd4c A G 4: 86,721,228 (GRCm39) E630G probably damaging Het
Dpt A T 1: 164,624,484 (GRCm39) I62F probably benign Het
Ext1 A T 15: 53,208,558 (GRCm39) W68R probably benign Het
Fgf4 A G 7: 144,416,523 (GRCm39) K152E probably benign Het
G530012D18Rik A T 1: 85,504,864 (GRCm39) T90S unknown Het
Galnt17 T C 5: 130,992,949 (GRCm39) T322A possibly damaging Het
Gcm1 A T 9: 77,966,925 (GRCm39) D48V possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm49358 G T 10: 86,661,071 (GRCm39) R353L probably damaging Het
Golga4 A G 9: 118,365,908 (GRCm39) E320G possibly damaging Het
Herc3 T C 6: 58,895,758 (GRCm39) I1002T probably damaging Het
Hip1r T A 5: 124,111,845 (GRCm39) V7E possibly damaging Het
Hipk1 G A 3: 103,684,926 (GRCm39) Q230* probably null Het
Igsf9b C T 9: 27,242,992 (GRCm39) P726L probably damaging Het
Itgb6 T C 2: 60,464,998 (GRCm39) I345V probably damaging Het
Lhx4 G T 1: 155,600,699 (GRCm39) Q29K probably benign Het
Manba A G 3: 135,273,396 (GRCm39) T777A probably benign Het
Mcm3ap A G 10: 76,337,145 (GRCm39) D1360G probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mmp14 T G 14: 54,673,336 (GRCm39) D81E probably damaging Het
Naalad2 T C 9: 18,275,337 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or7a38 A T 10: 78,753,339 (GRCm39) I222L possibly damaging Het
Or8b35 T A 9: 37,904,253 (GRCm39) M150K possibly damaging Het
Pacs2 A G 12: 113,025,312 (GRCm39) D488G possibly damaging Het
Prr5 T G 15: 84,629,993 (GRCm39) L108R probably null Het
Psg23 A G 7: 18,341,064 (GRCm39) S397P probably benign Het
Rfpl4 C A 7: 5,113,659 (GRCm39) R174L probably damaging Het
Runx3 T A 4: 134,880,090 (GRCm39) I3N probably damaging Het
Scn5a A T 9: 119,372,451 (GRCm39) N214K possibly damaging Het
Slc27a1 T C 8: 72,037,092 (GRCm39) I412T probably damaging Het
Sptbn4 T G 7: 27,116,210 (GRCm39) T530P probably benign Het
Tex15 A T 8: 34,060,854 (GRCm39) R95* probably null Het
Tex15 T C 8: 34,063,023 (GRCm39) S818P probably damaging Het
Tmod1 A T 4: 46,093,951 (GRCm39) K221* probably null Het
Tpm3 G A 3: 89,998,361 (GRCm39) D272N probably benign Het
Trpm6 T C 19: 18,831,155 (GRCm39) V1340A probably benign Het
Ugt2b5 A T 5: 87,273,131 (GRCm39) C512S probably benign Het
Vmn2r82 A T 10: 79,215,268 (GRCm39) E417V probably benign Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Zfp217 A T 2: 169,956,072 (GRCm39) S975R probably benign Het
Zfr C T 15: 12,146,309 (GRCm39) Q287* probably null 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
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
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'- GTCACTATTGGCAGAGGAGC -3'
(R):5'- ACTCCAGTCTGATGCGTTC -3'

Sequencing Primer
(F):5'- AGCAGTCTCCTTGAGAAAGTGTC -3'
(R):5'- TGCCAACGAAATATTGAGATCAGC -3'
Posted On 2019-06-26