Incidental Mutation 'IGL01974:Ednrb'
ID181691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ednrb
Ensembl Gene ENSMUSG00000022122
Gene Nameendothelin receptor type B
SynonymsETb, ETR-b, Sox10m1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.827) question?
Stock #IGL01974
Quality Score
Status
Chromosome14
Chromosomal Location103814625-103844402 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 103820818 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 350 (Y350D)
Ref Sequence ENSEMBL: ENSMUSP00000154806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022718] [ENSMUST00000172237] [ENSMUST00000227824]
Predicted Effect probably damaging
Transcript: ENSMUST00000022718
AA Change: Y350D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022718
Gene: ENSMUSG00000022122
AA Change: Y350D

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: Y350D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126057
Gene: ENSMUSG00000022122
AA Change: Y350D

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: Y350D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,659,805 D1401G possibly damaging Het
Adamts2 G A 11: 50,776,174 G433S probably damaging Het
Cacna2d2 A C 9: 107,517,422 S598R probably benign Het
Cdkl3 A G 11: 52,011,237 Q91R probably damaging Het
Celf2 T C 2: 6,604,031 Y313C probably damaging Het
Clint1 C A 11: 45,909,035 N558K probably benign Het
Dcbld1 A G 10: 52,304,681 H147R probably benign Het
Dusp27 A T 1: 166,100,536 C502* probably null Het
Elp2 C T 18: 24,626,203 P539L probably damaging Het
Fam217b G A 2: 178,421,227 R328Q probably damaging Het
Gm9991 G T 1: 90,675,475 noncoding transcript Het
Herc4 T G 10: 63,299,241 probably null Het
Hus1 T C 11: 9,000,088 N211S possibly damaging Het
Immt A G 6: 71,872,858 D454G probably damaging Het
Itga4 G A 2: 79,273,127 probably benign Het
Kank1 A T 19: 25,410,232 N423I possibly damaging Het
Kynu T A 2: 43,681,340 probably benign Het
Mycbp2 A C 14: 103,143,211 S3670A possibly damaging Het
Ndufv3 T C 17: 31,521,609 V30A probably benign Het
Olfr1048 G T 2: 86,235,960 L292I probably benign Het
Per2 C T 1: 91,423,718 R1022Q probably benign Het
Rad23a T C 8: 84,838,939 E30G probably damaging Het
Ropn1l T A 15: 31,449,109 Y91F probably benign Het
Sertad4 C A 1: 192,846,966 E181* probably null Het
Tnfrsf1b G A 4: 145,215,851 P454L probably damaging Het
Ttbk2 G A 2: 120,786,083 R110W probably damaging Het
Usp17le G T 7: 104,768,435 S500Y 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
IGL01631:Ednrb APN 14 103843225 missense probably benign 0.02
IGL01696:Ednrb APN 14 103823189 missense probably benign 0.00
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
R7949:Ednrb UTSW 14 103843302 missense probably benign
Posted On2014-05-07