Incidental Mutation 'R5847:Edar'
ID 453683
Institutional Source Beutler Lab
Gene Symbol Edar
Ensembl Gene ENSMUSG00000003227
Gene Name ectodysplasin-A receptor
Synonyms
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58436611-58511476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58439001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 344 (S344C)
Ref Sequence ENSEMBL: ENSMUSP00000003312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003312]
AlphaFold Q9R187
Predicted Effect probably damaging
Transcript: ENSMUST00000003312
AA Change: S344C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: S344C

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 0.3015 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably 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
R1217:Edar UTSW 10 58,464,453 (GRCm39) missense probably damaging 1.00
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
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'- TGCGGTCAAAGAGCTGCATG -3'
(R):5'- GCAGTGTACTAGCTCTGGACTTAAC -3'

Sequencing Primer
(F):5'- AGCTGCATGCCATCAGTCATG -3'
(R):5'- CGTTGACTTTTGAATACCGAACCAG -3'
Posted On 2017-02-10