Incidental Mutation 'IGL02749:Ednrb'
ID 306209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ednrb
Ensembl Gene ENSMUSG00000022122
Gene Name endothelin receptor type B
Synonyms ETR-b, Sox10m1, ETb
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # IGL02749
Quality Score
Status
Chromosome 14
Chromosomal Location 104052061-104081838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104060495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 266 (M266K)
Ref Sequence ENSEMBL: ENSMUSP00000154806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022718] [ENSMUST00000172237] [ENSMUST00000227824]
AlphaFold P48302
Predicted Effect possibly damaging
Transcript: ENSMUST00000022718
AA Change: M266K

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: M266K

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 possibly damaging
Transcript: ENSMUST00000172237
AA Change: M266K

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: M266K

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 possibly damaging
Transcript: ENSMUST00000227824
AA Change: M266K

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik T C 12: 112,963,795 (GRCm39) D61G probably benign Het
Albfm1 T C 5: 90,719,624 (GRCm39) V240A possibly damaging Het
Ascc2 G A 11: 4,590,481 (GRCm39) probably null Het
Atrn C T 2: 130,812,064 (GRCm39) Q670* probably null Het
Atrn G T 2: 130,789,654 (GRCm39) probably benign Het
Calr A C 8: 85,571,117 (GRCm39) W236G probably damaging Het
Camk2g T A 14: 20,816,084 (GRCm39) probably null Het
Cd101 G T 3: 100,927,715 (GRCm39) T122K probably damaging Het
Cert1 T A 13: 96,765,643 (GRCm39) N469K possibly damaging Het
Cryl1 T C 14: 57,541,181 (GRCm39) T168A probably benign Het
Diaph3 A G 14: 87,156,261 (GRCm39) I684T probably damaging Het
Eif4h T C 5: 134,668,146 (GRCm39) D3G probably damaging Het
Eny2 C T 15: 44,293,031 (GRCm39) R28C possibly damaging Het
Epsti1 A G 14: 78,177,363 (GRCm39) E181G probably damaging Het
Ezh2 A G 6: 47,510,698 (GRCm39) F598S probably damaging Het
Fat3 G T 9: 15,918,007 (GRCm39) T1472K possibly damaging Het
Gabra4 T A 5: 71,795,490 (GRCm39) I262F probably benign Het
Gpat4 A T 8: 23,670,886 (GRCm39) Y109N probably damaging Het
Gpsm1 C T 2: 26,229,687 (GRCm39) T36I probably damaging Het
Hikeshi C T 7: 89,585,097 (GRCm39) V36I possibly damaging Het
Hip1 T C 5: 135,473,605 (GRCm39) M238V probably benign Het
Hnrnpll A T 17: 80,369,420 (GRCm39) M1K probably null Het
Irx2 G A 13: 72,779,429 (GRCm39) D238N probably damaging Het
Kcnip4 T A 5: 48,567,127 (GRCm39) probably benign Het
Lair1 G A 7: 4,031,900 (GRCm39) T69I possibly damaging Het
Lamc1 A G 1: 153,125,599 (GRCm39) I558T possibly damaging Het
Map4k5 C T 12: 69,862,580 (GRCm39) E639K probably benign Het
Mc4r A G 18: 66,992,733 (GRCm39) S127P probably damaging Het
Mmp23 A G 4: 155,735,989 (GRCm39) M221T possibly damaging Het
Mre11a T C 9: 14,737,887 (GRCm39) S587P possibly damaging Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Nek9 C A 12: 85,352,281 (GRCm39) A861S probably benign Het
Nup155 T A 15: 8,163,560 (GRCm39) Y576N probably damaging Het
Or5w10 C T 2: 87,375,001 (GRCm39) V296M probably damaging Het
Pcca A T 14: 122,771,800 (GRCm39) T8S probably benign Het
Pcdh15 A G 10: 74,466,900 (GRCm39) D1573G probably benign Het
Pdpr T A 8: 111,844,722 (GRCm39) V373E probably benign Het
Pdzph1 A T 17: 59,239,478 (GRCm39) L950Q possibly damaging Het
Pira13 A G 7: 3,825,624 (GRCm39) I415T probably damaging Het
Prss35 A C 9: 86,638,297 (GRCm39) K356Q probably damaging Het
Psg22 A T 7: 18,456,944 (GRCm39) T237S possibly damaging Het
Rdh13 A G 7: 4,430,703 (GRCm39) Y252H probably damaging Het
Sema3d T C 5: 12,613,112 (GRCm39) probably benign Het
Slc35b2 G A 17: 45,877,493 (GRCm39) V207I probably benign Het
Sparcl1 T G 5: 104,240,746 (GRCm39) E226A possibly damaging Het
Srms C A 2: 180,851,302 (GRCm39) A155S possibly damaging Het
Tas2r107 A T 6: 131,636,917 (GRCm39) I44N probably damaging Het
Tmem236 C T 2: 14,224,132 (GRCm39) T307M probably damaging Het
Ush2a C T 1: 188,679,155 (GRCm39) P4788S probably damaging Het
Vmn1r170 A T 7: 23,305,716 (GRCm39) L39F probably benign Het
Vmn2r90 T A 17: 17,947,122 (GRCm39) *121R 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
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
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
Posted On 2015-04-16