Incidental Mutation 'IGL02207:Edar'
ID284541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edar
Ensembl Gene ENSMUSG00000003227
Gene Nameectodysplasin-A receptor
Synonymsanhidrotic ectodysplasin receptor 1, ectodermal dysplasia receptor, ectodysplasin A1 isoform receptor (EDA-A1R), downless (dl), ED1R, ED3, ED5, EDA3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.470) question?
Stock #IGL02207
Quality Score
Status
Chromosome10
Chromosomal Location58600789-58675654 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 58610521 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 194 (T194K)
Ref Sequence ENSEMBL: ENSMUSP00000003312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003312]
Predicted Effect probably damaging
Transcript: ENSMUST00000003312
AA Change: T194K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: T194K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:TNFR 31 71 2e-16 BLAST
SCOP:d1jmab1 31 91 2e-3 SMART
Blast:TNFR 74 113 5e-20 BLAST
low complexity region 149 169 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
low complexity region 214 229 N/A INTRINSIC
SCOP:d1ngr__ 348 430 2e-4 SMART
low complexity region 439 448 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110034G24Rik A T 2: 132,691,946 probably benign Het
Adamtsl2 A G 2: 27,102,981 E702G probably damaging Het
Adgre5 T C 8: 83,728,284 T260A probably damaging Het
Agap3 A T 5: 24,499,936 T660S probably benign Het
Amotl2 A T 9: 102,724,697 E380V probably damaging Het
Ap4e1 A G 2: 127,011,816 E58G probably damaging Het
Arap3 G A 18: 37,987,853 A713V probably benign Het
B4galt2 T C 4: 117,881,521 D33G probably damaging Het
Bbs7 A T 3: 36,604,490 S212T probably benign Het
Ccl26 A G 5: 135,563,370 Y38H probably benign Het
Ccne2 A T 4: 11,202,261 S339C probably benign Het
Cd55 A G 1: 130,452,419 V274A possibly damaging Het
Cenpw T G 10: 30,198,581 probably null Het
Chrnb4 T C 9: 55,035,216 D258G probably damaging Het
Col4a3bp T C 13: 96,624,792 probably null Het
Commd3 T C 2: 18,674,008 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b23 C A 7: 26,681,755 R59L probably damaging Het
Edem3 A G 1: 151,808,360 I733V possibly damaging Het
Elmod2 T C 8: 83,321,506 Y109C probably benign Het
Eps15 C T 4: 109,304,748 probably benign Het
Fat4 T C 3: 38,951,263 V1937A probably benign Het
Fdx1l T A 9: 21,068,119 probably null Het
Flg2 A T 3: 93,220,128 I2116F unknown Het
Gm15091 A G X: 149,977,466 D424G possibly damaging Het
Gm16380 T A 9: 53,884,539 noncoding transcript Het
Gm6614 A T 6: 141,990,432 I309N possibly damaging Het
Gpn2 G A 4: 133,584,636 V60M possibly damaging Het
Grip1 G A 10: 120,075,309 R1044K probably damaging Het
H2-D1 T A 17: 35,263,414 S37T possibly damaging Het
Havcr1 C T 11: 46,778,576 A294V probably benign Het
Herc4 G A 10: 63,299,244 probably null Het
Ift140 A G 17: 25,055,598 Y748C probably benign Het
Il20ra A G 10: 19,751,578 T242A probably damaging Het
Ilvbl G A 10: 78,583,702 probably null Het
Kif18a A T 2: 109,296,707 I329L probably damaging Het
Kmt2a T A 9: 44,847,682 I957F probably damaging Het
Krt1 A G 15: 101,848,616 I282T possibly damaging Het
Lamb1 T G 12: 31,329,435 V1768G probably damaging Het
Nek9 A T 12: 85,303,483 L939* probably null Het
Nfe2l2 A G 2: 75,678,525 L122P probably damaging Het
Nin T C 12: 70,056,657 M270V probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nrde2 T C 12: 100,130,931 Y870C probably benign Het
Nsmce2 A G 15: 59,416,078 M71V probably benign Het
Ocstamp T C 2: 165,397,663 H201R possibly damaging Het
Olfr1126 A G 2: 87,457,450 D95G probably benign Het
Olfr744 G A 14: 50,618,558 G112D probably damaging Het
Oog4 T C 4: 143,438,940 I212M probably benign Het
Osmr T C 15: 6,847,147 T99A probably benign Het
Pdia4 A T 6: 47,796,807 M536K probably benign Het
Pdyn A T 2: 129,688,518 L77H probably damaging Het
Pikfyve T C 1: 65,251,678 probably null Het
Plcb1 A G 2: 135,387,171 E1105G probably damaging Het
Rb1 A T 14: 73,206,085 D743E probably damaging Het
Rdh14 G A 12: 10,394,712 V188I possibly damaging Het
Scd3 T C 19: 44,215,589 V72A possibly damaging Het
Slc25a27 G A 17: 43,661,684 R104W probably damaging Het
Slc29a4 A G 5: 142,718,885 D394G possibly damaging Het
Snx29 T G 16: 11,738,352 M407R probably damaging Het
Syf2 A G 4: 134,935,052 probably null Het
Syn1 T C X: 20,865,137 Q321R probably benign Het
Tbc1d12 A T 19: 38,916,647 D602V probably damaging Het
Tenm4 A T 7: 96,874,116 I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 probably benign Het
Trav6-2 G A 14: 52,667,432 V8M possibly damaging Het
Unc119b A G 5: 115,134,754 S53P probably benign Het
Vmp1 T A 11: 86,607,193 I299F possibly damaging Het
Xpot T C 10: 121,613,580 Y194C probably damaging Het
Zbtb10 T A 3: 9,280,465 probably null Het
Other mutations in Edar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Edar APN 10 58628638 missense probably damaging 1.00
IGL01551:Edar APN 10 58606038 splice site probably benign
IGL02391:Edar APN 10 58628581 missense probably damaging 0.96
IGL03152:Edar APN 10 58609995 missense possibly damaging 0.88
achtung2 UTSW 10 58603163 missense probably damaging 1.00
two-tone UTSW 10 58603179 missense probably damaging 1.00
ANU23:Edar UTSW 10 58628638 missense probably damaging 1.00
R0113:Edar UTSW 10 58629449 missense probably damaging 1.00
R0413:Edar UTSW 10 58629440 missense probably benign 0.00
R0927:Edar UTSW 10 58629491 splice site probably null
R1217:Edar UTSW 10 58628631 missense probably damaging 1.00
R1458:Edar UTSW 10 58607366 missense probably benign 0.27
R1651:Edar UTSW 10 58606053 missense possibly damaging 0.49
R3820:Edar UTSW 10 58621363 missense probably damaging 1.00
R3932:Edar UTSW 10 58610342 missense probably damaging 1.00
R4050:Edar UTSW 10 58609947 missense possibly damaging 0.74
R4911:Edar UTSW 10 58621324 missense probably benign 0.03
R4924:Edar UTSW 10 58629375 missense probably damaging 1.00
R4998:Edar UTSW 10 58606093 missense probably damaging 1.00
R5311:Edar UTSW 10 58607435 missense possibly damaging 0.68
R5314:Edar UTSW 10 58607360 missense probably benign 0.00
R5371:Edar UTSW 10 58607452 missense possibly damaging 0.64
R5566:Edar UTSW 10 58628641 missense possibly damaging 0.50
R5847:Edar UTSW 10 58603179 missense probably damaging 1.00
Posted On2015-04-16