Incidental Mutation 'IGL01631:Ednrb'
ID 93461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ednrb
Ensembl Gene ENSMUSG00000022122
Gene Name endothelin receptor type B
Synonyms ETb, ETR-b, Sox10m1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.792) question?
Stock # IGL01631
Quality Score
Status
Chromosome 14
Chromosomal Location 103814625-103844402 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103843225 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 84 (R84S)
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: R84S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: R84S

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 benign
Transcript: ENSMUST00000172237
AA Change: R84S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: R84S

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 benign
Transcript: ENSMUST00000227824
AA Change: R84S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,414 I228M probably damaging Het
Apip C A 2: 103,073,849 probably benign Het
Arid4a C T 12: 71,022,262 probably benign Het
Brwd1 C A 16: 96,046,466 E98D probably damaging Het
Cactin A G 10: 81,323,224 E303G probably benign Het
Ccdc181 T A 1: 164,280,144 I132K possibly damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Cog4 A G 8: 110,881,840 E756G probably damaging Het
Ctsf T C 19: 4,858,078 L217P probably damaging Het
Dmp1 G T 5: 104,212,868 R470L probably benign Het
Dnajc9 T C 14: 20,388,108 D142G probably benign Het
Gm1110 A T 9: 26,897,916 probably null Het
Gm13119 A G 4: 144,362,445 H111R probably benign Het
Has2 A G 15: 56,681,676 S177P possibly damaging Het
Herc6 C T 6: 57,604,107 S264F probably benign Het
Il1rl2 T A 1: 40,356,814 probably null Het
Ltbp2 A G 12: 84,809,146 probably null Het
Map4 A G 9: 110,063,133 probably benign Het
March4 T A 1: 72,452,531 K194* probably null Het
Megf10 A G 18: 57,259,797 D422G possibly damaging Het
Mfsd2a C A 4: 122,949,307 A394S probably benign Het
Mmp27 T C 9: 7,573,288 probably benign Het
Mvd A G 8: 122,434,821 Y370H possibly damaging Het
Olfr1254 T C 2: 89,788,785 D189G probably damaging Het
Olfr922 T A 9: 38,816,039 C179S probably damaging Het
Ptk2 G A 15: 73,216,371 H859Y probably damaging Het
Ptprq T A 10: 107,643,538 E1209D probably benign Het
Rhot1 C T 11: 80,265,774 T636M probably damaging Het
Ripk2 C A 4: 16,163,342 A19S possibly damaging Het
Rsbn1l G A 5: 20,896,571 S657L probably damaging Het
Rsbn1l A T 5: 20,896,572 S657T probably damaging Het
Sema6c A G 3: 95,170,403 T450A probably benign Het
Slc25a1 C T 16: 17,926,066 C262Y probably damaging Het
Slfn3 T C 11: 83,213,535 S288P probably damaging Het
Snrnp200 T A 2: 127,238,824 probably benign Het
Ssu2 T C 6: 112,374,882 Y294C probably damaging Het
Terb1 A G 8: 104,472,864 S483P probably damaging Het
Tsga13 T C 6: 30,913,566 K8E possibly damaging Het
Zbbx T G 3: 75,078,677 D351A probably damaging Het
Zfp454 G T 11: 50,883,735 A37D probably benign Het
Other mutations in Ednrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Ednrb APN 14 103820019 missense probably damaging 1.00
IGL01433:Ednrb APN 14 103843190 missense probably damaging 0.98
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
R2072:Ednrb UTSW 14 103817099 missense probably benign 0.27
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
Posted On 2013-12-09