Incidental Mutation 'R1217:Edar'
ID 99757
Institutional Source Beutler Lab
Gene Symbol Edar
Ensembl Gene ENSMUSG00000003227
Gene Name ectodysplasin-A receptor
Synonyms
MMRRC Submission 039286-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R1217 (G1)
Quality Score 202
Status Validated
Chromosome 10
Chromosomal Location 58436611-58511476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58464453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 62 (Y62C)
Ref Sequence ENSEMBL: ENSMUSP00000003312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003312]
AlphaFold Q9R187
Predicted Effect probably damaging
Transcript: ENSMUST00000003312
AA Change: Y62C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: Y62C

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
Meta Mutation Damage Score 0.1348 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.6%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a A T 10: 75,169,049 (GRCm39) Y171F probably damaging Het
Agpat4 C T 17: 12,429,203 (GRCm39) R152W probably damaging Het
Aldh1a2 A G 9: 71,188,964 (GRCm39) N293D possibly damaging Het
Ash2l T C 8: 26,312,913 (GRCm39) N441S probably damaging Het
Asrgl1 A T 19: 9,093,864 (GRCm39) probably null Het
Capn3 C A 2: 120,316,902 (GRCm39) S277* probably null Het
Ccdc168 A T 1: 44,096,339 (GRCm39) S1586R possibly damaging Het
Ccp110 T C 7: 118,329,167 (GRCm39) probably benign Het
Cdh17 T C 4: 11,799,676 (GRCm39) V491A probably benign Het
Cep170b T C 12: 112,707,339 (GRCm39) S362P probably damaging Het
Cfap57 A G 4: 118,463,849 (GRCm39) S335P possibly damaging Het
Cmklr1 A T 5: 113,752,107 (GRCm39) L298Q probably damaging Het
Col4a4 A T 1: 82,466,730 (GRCm39) probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cyp2d26 A G 15: 82,677,068 (GRCm39) probably benign Het
Cyth3 T C 5: 143,688,575 (GRCm39) Y240H probably damaging Het
Dhx9 G A 1: 153,334,109 (GRCm39) T1017I probably damaging Het
Esyt3 C T 9: 99,200,097 (GRCm39) G699D possibly damaging Het
Fgb T C 3: 82,950,564 (GRCm39) T397A probably damaging Het
Foxc1 C A 13: 31,992,668 (GRCm39) A493E unknown Het
Grid1 T C 14: 34,542,186 (GRCm39) M1T probably null Het
Ipo4 T C 14: 55,871,816 (GRCm39) K113R probably damaging Het
Kif21b A G 1: 136,080,114 (GRCm39) E550G probably damaging Het
Krt1 T C 15: 101,757,416 (GRCm39) K265E possibly damaging Het
Lmx1a G A 1: 167,618,968 (GRCm39) R109H probably damaging Het
Mcm5 A G 8: 75,852,919 (GRCm39) K677R probably benign Het
Metap1 A T 3: 138,180,791 (GRCm39) L130* probably null Het
Mrgpra4 A G 7: 47,631,085 (GRCm39) L172P probably benign Het
Mylip G A 13: 45,560,178 (GRCm39) E205K probably damaging Het
Myo3b A C 2: 70,161,224 (GRCm39) E1128A probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nlrp4d T C 7: 10,098,194 (GRCm39) I823V probably benign Het
Odad1 C T 7: 45,592,182 (GRCm39) probably benign Het
Rec114 A T 9: 58,573,103 (GRCm39) probably benign Het
Rimbp2 C T 5: 128,865,351 (GRCm39) A666T probably benign Het
Siva1 C T 12: 112,613,355 (GRCm39) Q68* probably null Het
Slc22a27 T A 19: 7,904,033 (GRCm39) I35F probably benign Het
Slco1a5 T A 6: 142,200,100 (GRCm39) N228I probably damaging Het
St8sia4 G A 1: 95,581,464 (GRCm39) R93C probably damaging Het
Tprg1 T C 16: 25,231,593 (GRCm39) S190P probably damaging Het
Trpc6 A G 9: 8,658,287 (GRCm39) probably null Het
Vmn2r70 C T 7: 85,208,269 (GRCm39) C736Y probably damaging Het
Zfp629 C T 7: 127,211,916 (GRCm39) probably benign Het
Zswim4 A G 8: 84,946,601 (GRCm39) V685A possibly damaging Het
Other mutations in Edar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Edar APN 10 58,464,460 (GRCm39) missense probably damaging 1.00
IGL01551:Edar APN 10 58,441,860 (GRCm39) splice site probably benign
IGL02207:Edar APN 10 58,446,343 (GRCm39) missense probably damaging 0.99
IGL02391:Edar APN 10 58,464,403 (GRCm39) missense probably damaging 0.96
IGL03152:Edar APN 10 58,445,817 (GRCm39) missense possibly damaging 0.88
achtung2 UTSW 10 58,438,985 (GRCm39) missense probably damaging 1.00
two-tone UTSW 10 58,439,001 (GRCm39) missense probably damaging 1.00
ANU23:Edar UTSW 10 58,464,460 (GRCm39) missense probably damaging 1.00
R0113:Edar UTSW 10 58,465,271 (GRCm39) missense probably damaging 1.00
R0413:Edar UTSW 10 58,465,262 (GRCm39) missense probably benign 0.00
R0927:Edar UTSW 10 58,465,313 (GRCm39) splice site probably null
R1458:Edar UTSW 10 58,443,188 (GRCm39) missense probably benign 0.27
R1651:Edar UTSW 10 58,441,875 (GRCm39) missense possibly damaging 0.49
R3820:Edar UTSW 10 58,457,185 (GRCm39) missense probably damaging 1.00
R3932:Edar UTSW 10 58,446,164 (GRCm39) missense probably damaging 1.00
R4050:Edar UTSW 10 58,445,769 (GRCm39) missense possibly damaging 0.74
R4911:Edar UTSW 10 58,457,146 (GRCm39) missense probably benign 0.03
R4924:Edar UTSW 10 58,465,197 (GRCm39) missense probably damaging 1.00
R4998:Edar UTSW 10 58,441,915 (GRCm39) missense probably damaging 1.00
R5311:Edar UTSW 10 58,443,257 (GRCm39) missense possibly damaging 0.68
R5314:Edar UTSW 10 58,443,182 (GRCm39) missense probably benign 0.00
R5371:Edar UTSW 10 58,443,274 (GRCm39) missense possibly damaging 0.64
R5566:Edar UTSW 10 58,464,463 (GRCm39) missense possibly damaging 0.50
R5847:Edar UTSW 10 58,439,001 (GRCm39) missense probably damaging 1.00
R7330:Edar UTSW 10 58,446,376 (GRCm39) missense probably damaging 0.98
R7529:Edar UTSW 10 58,447,830 (GRCm39) missense probably benign
R7812:Edar UTSW 10 58,465,926 (GRCm39) missense probably benign
R7872:Edar UTSW 10 58,446,348 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GTTCTGCTCACAGGGTCAGTGTTC -3'
(R):5'- TAGTGAGGCACTCCAAGAAGCCAG -3'

Sequencing Primer
(F):5'- ACAGGGTCAGTGTTCCTCAC -3'
(R):5'- TTAAAGGACCTCATCTGAGGCTG -3'
Posted On 2014-01-15