Incidental Mutation 'R4998:Edar'
ID 389654
Institutional Source Beutler Lab
Gene Symbol Edar
Ensembl Gene ENSMUSG00000003227
Gene Name ectodysplasin-A receptor
Synonyms
MMRRC Submission 042592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R4998 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58436611-58511476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58441915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 326 (R326G)
Ref Sequence ENSEMBL: ENSMUSP00000003312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003312]
AlphaFold Q9R187
Predicted Effect probably damaging
Transcript: ENSMUST00000003312
AA Change: R326G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: R326G

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 0.2186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (91/94)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T C 7: 27,271,088 (GRCm39) V135A probably damaging Het
Ankrd42 T C 7: 92,273,282 (GRCm39) N115S possibly damaging Het
Baz1a T C 12: 55,021,922 (GRCm39) E120G probably damaging Het
Calcrl A T 2: 84,169,658 (GRCm39) V341E probably damaging Het
Card6 T C 15: 5,129,564 (GRCm39) R611G probably benign Het
Cd70 A T 17: 57,453,311 (GRCm39) S118T probably damaging Het
Chil5 T A 3: 105,927,248 (GRCm39) I188F probably damaging Het
Clca4b C T 3: 144,621,269 (GRCm39) V602I probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Col6a4 A G 9: 105,867,977 (GRCm39) probably benign Het
Cox8b T C 7: 140,479,001 (GRCm39) E38G probably damaging Het
Cx3cl1 C G 8: 95,507,053 (GRCm39) L353V probably damaging Het
Cyp2a4 G T 7: 26,006,786 (GRCm39) Q48H probably damaging Het
Defb8 T C 8: 19,497,603 (GRCm39) I3V probably benign Het
Dip2a A T 10: 76,155,390 (GRCm39) L65* probably null Het
Dnaaf4 A G 9: 72,867,960 (GRCm39) T74A possibly damaging Het
Dsg2 A T 18: 20,734,578 (GRCm39) D852V probably benign Het
Egfr A G 11: 16,831,493 (GRCm39) E554G possibly damaging Het
Eif2b3 A C 4: 116,923,589 (GRCm39) K268T probably benign Het
Enox1 A T 14: 77,738,875 (GRCm39) probably benign Het
Enpp3 C A 10: 24,683,436 (GRCm39) M260I probably benign Het
Espn A T 4: 152,220,040 (GRCm39) M361K possibly damaging Het
Fam107a T C 14: 8,299,514 (GRCm38) N108S possibly damaging Het
Fbn2 A T 18: 58,205,703 (GRCm39) V1125D probably damaging Het
Fbxo30 T A 10: 11,166,507 (GRCm39) S410T probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fcsk G A 8: 111,614,435 (GRCm39) A618V probably damaging Het
Gm10715 T G 9: 3,038,073 (GRCm39) probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm17416 C A 2: 152,411,427 (GRCm39) P57Q probably damaging Het
Gm27013 A T 6: 130,653,501 (GRCm39) C654S probably damaging Het
Gon4l G T 3: 88,807,305 (GRCm39) E1666D probably damaging Het
Gypa T A 8: 81,222,964 (GRCm39) S23T unknown Het
Gys1 C A 7: 45,100,968 (GRCm39) probably benign Het
Hdac10 T A 15: 89,008,143 (GRCm39) Q569L possibly damaging Het
Icos A G 1: 61,032,941 (GRCm39) T47A possibly damaging Het
Igfn1 T A 1: 135,882,404 (GRCm39) I2814F probably damaging Het
Kif27 A G 13: 58,440,957 (GRCm39) S1153P probably damaging Het
Lin28a A C 4: 133,746,028 (GRCm39) F9V possibly damaging Het
Lrriq3 T A 3: 154,893,695 (GRCm39) N465K probably benign Het
Lsm14a T C 7: 34,074,799 (GRCm39) E47G probably damaging Het
Mmel1 A G 4: 154,969,967 (GRCm39) K177R probably benign Het
Ncstn T A 1: 171,899,087 (GRCm39) N348I possibly damaging Het
Ninl A G 2: 150,795,284 (GRCm39) I619T probably damaging Het
Npb T C 11: 120,499,401 (GRCm39) Y23H probably damaging Het
Npepps A G 11: 97,096,933 (GRCm39) probably benign Het
Or8k30 T C 2: 86,339,699 (GRCm39) Y299H probably benign Het
Otop1 G A 5: 38,451,892 (GRCm39) probably null Het
Pcdha1 T C 18: 37,065,469 (GRCm39) L711P probably damaging Het
Pcyt1a A G 16: 32,270,660 (GRCm39) probably benign Het
Pdpr G T 8: 111,841,400 (GRCm39) V211F probably damaging Het
Pip4k2b T C 11: 97,613,261 (GRCm39) N245S possibly damaging Het
Platr26 G A 2: 71,561,214 (GRCm39) noncoding transcript Het
Plek A G 11: 16,933,194 (GRCm39) probably null Het
Potefam3c G C 8: 69,906,010 (GRCm39) N13K probably benign Het
Prdm15 A T 16: 97,595,689 (GRCm39) D1046E probably damaging Het
Prr29 T G 11: 106,267,779 (GRCm39) C175G probably benign Het
Ptpru A G 4: 131,504,196 (GRCm39) V1097A probably damaging Het
Ramp2 T A 11: 101,138,247 (GRCm39) probably benign Het
Rap1gap A G 4: 137,455,595 (GRCm39) D381G possibly damaging Het
Rbbp6 T A 7: 122,589,549 (GRCm39) D412E probably benign Het
Rgs4 C T 1: 169,572,802 (GRCm39) V45I probably benign Het
Ryr2 C T 13: 11,658,781 (GRCm39) R3614Q probably damaging Het
Shc3 G A 13: 51,596,856 (GRCm39) probably null Het
Shmt2 A T 10: 127,354,139 (GRCm39) C412S probably damaging Het
Slc25a45 A T 19: 5,934,945 (GRCm39) N265Y probably damaging Het
Slc4a10 G C 2: 62,074,783 (GRCm39) E316Q probably benign Het
Slc5a8 T C 10: 88,743,919 (GRCm39) probably null Het
Snx31 A G 15: 36,539,513 (GRCm39) V121A probably damaging Het
Socs3 T C 11: 117,858,542 (GRCm39) E172G probably damaging Het
Tg A G 15: 66,545,899 (GRCm39) D207G probably damaging Het
Them4 G T 3: 94,237,088 (GRCm39) V183F probably damaging Het
Tkt G A 14: 30,287,499 (GRCm39) W136* probably null Het
Tlcd3b C T 7: 126,426,795 (GRCm39) R73C probably damaging Het
Tmc3 C A 7: 83,271,529 (GRCm39) R894S probably benign Het
Tmem132a G T 19: 10,836,305 (GRCm39) P742T probably benign Het
Tmem202 A G 9: 59,432,129 (GRCm39) L66P probably damaging Het
Trbc1 G A 6: 41,516,270 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,511 (GRCm39) F158L probably benign Het
Ttc13 A T 8: 125,406,795 (GRCm39) N595K probably damaging Het
Ucp1 A G 8: 84,024,484 (GRCm39) probably null Het
Zbtb4 C T 11: 69,669,497 (GRCm39) T740I probably benign Het
Zfp69 A T 4: 120,804,522 (GRCm39) D116E possibly damaging Het
Zfp879 A G 11: 50,728,796 (GRCm39) L66S probably damaging Het
Zfp955b T A 17: 33,524,125 (GRCm39) probably benign Het
Zfyve1 T C 12: 83,594,839 (GRCm39) I718V 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
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
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'- GGAGTGAGCCCTGAATAACTC -3'
(R):5'- ACCTAGGGACAGTCTTCCTC -3'

Sequencing Primer
(F):5'- TGGACCTCACTATGTAGACCAGG -3'
(R):5'- AGGGACAGTCTTCCTCTTGATAAC -3'
Posted On 2016-06-06