Incidental Mutation 'R5654:Edaradd'
ID 442193
Institutional Source Beutler Lab
Gene Symbol Edaradd
Ensembl Gene ENSMUSG00000095105
Gene Name EDAR associated via death domain
Synonyms EDAR (ectodysplasin-A receptor)-associated death domain, 1810032E07Rik, 5830469M23Rik
MMRRC Submission 043300-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.685) question?
Stock # R5654 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 12487513-12535319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 12493161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 177 (R177L)
Ref Sequence ENSEMBL: ENSMUSP00000136158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179308]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000179308
AA Change: R177L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136158
Gene: ENSMUSG00000095105
AA Change: R177L

DomainStartEndE-ValueType
low complexity region 92 100 N/A INTRINSIC
Pfam:Death 116 192 1.4e-13 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 96% (69/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutations may lead to a kinked tail, reduced fertility, abnormal respiration and sparse hair. Chemically-induced mutants may show developmental defects in teeth, hair and ectoderm-derived glands, reduced viability and fertility, respiratory disorders, and lipid, myelin and brain defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 T C 1: 75,151,479 (GRCm39) probably null Het
Abcc9 G A 6: 142,571,371 (GRCm39) probably benign Het
Acss2 T C 2: 155,416,575 (GRCm39) probably benign Het
Atp8b4 G A 2: 126,217,725 (GRCm39) T597I probably damaging Het
Btaf1 A T 19: 36,961,015 (GRCm39) N796I probably benign Het
Caskin2 T C 11: 115,690,905 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,349 (GRCm39) N1295D probably benign Het
Cog3 G A 14: 75,962,239 (GRCm39) T534M probably benign Het
Cpne1 A G 2: 155,919,561 (GRCm39) S303P probably damaging Het
Cs G A 10: 128,187,086 (GRCm39) G74S possibly damaging Het
Cyb5r4 G T 9: 86,929,533 (GRCm39) S229I probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Ect2l C T 10: 18,018,810 (GRCm39) V529M probably damaging Het
Esf1 T C 2: 140,006,148 (GRCm39) D333G possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fbxl18 A G 5: 142,871,558 (GRCm39) I559T probably damaging Het
Fcrl2 A C 3: 87,164,851 (GRCm39) V225G probably benign Het
Ido1 C T 8: 25,077,819 (GRCm39) V83M probably damaging Het
Iffo1 T G 6: 125,130,030 (GRCm39) C419G probably damaging Het
Igfals A T 17: 25,100,439 (GRCm39) Y510F probably benign Het
Ipo9 A T 1: 135,313,210 (GRCm39) Y1006* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jmjd1c T A 10: 67,065,785 (GRCm39) S1737T probably benign Het
Klhl32 C T 4: 24,800,805 (GRCm39) probably null Het
Klk1b11 T A 7: 43,427,810 (GRCm39) C173S probably damaging Het
Klk1b24 A T 7: 43,840,889 (GRCm39) M106L probably benign Het
Lamp1 G A 8: 13,221,388 (GRCm39) probably null Het
Mapk4 A T 18: 74,103,365 (GRCm39) V48E probably damaging Het
Marchf6 A T 15: 31,486,082 (GRCm39) D395E probably damaging Het
Mdp1 A G 14: 55,896,465 (GRCm39) F157S probably damaging Het
Mettl21e A T 1: 44,250,255 (GRCm39) F50L probably damaging Het
Mrgpra2a A G 7: 47,077,153 (GRCm39) I35T probably benign Het
Natd1 T C 11: 60,796,892 (GRCm39) Y91C probably damaging Het
Nbas T A 12: 13,633,476 (GRCm39) Y2294N probably damaging Het
Nrcam A G 12: 44,610,841 (GRCm39) T520A probably benign Het
Nrf1 A G 6: 30,117,061 (GRCm39) T324A probably benign Het
Or10a2 G A 7: 106,673,394 (GRCm39) A120T probably damaging Het
Or4k51 T A 2: 111,585,326 (GRCm39) I244N probably damaging Het
Or52a5 A C 7: 103,427,182 (GRCm39) D123E probably damaging Het
Or5m11b A G 2: 85,806,500 (GRCm39) I304M probably benign Het
Pam C T 1: 97,792,123 (GRCm39) V433I probably benign Het
Pck1 T A 2: 173,000,353 (GRCm39) Y595N probably damaging Het
Per2 C T 1: 91,373,223 (GRCm39) probably null Het
Piezo2 G C 18: 63,278,162 (GRCm39) F247L possibly damaging Het
Pkdcc A G 17: 83,523,337 (GRCm39) Y148C probably damaging Het
Plod2 A G 9: 92,475,876 (GRCm39) T320A probably benign Het
Ppip5k1 G A 2: 121,147,157 (GRCm39) R1155C probably benign Het
Ppp1r15b C T 1: 133,059,382 (GRCm39) probably benign Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Ptprz1 G T 6: 22,986,133 (GRCm39) C311F probably damaging Het
Rab11fip3 A T 17: 26,235,038 (GRCm39) V44E probably damaging Het
Rpl5 T A 5: 108,051,514 (GRCm39) probably benign Het
Rttn G A 18: 89,066,556 (GRCm39) V1201I probably benign Het
Sdk1 A G 5: 141,921,853 (GRCm39) N283S probably damaging Het
Shank3 T A 15: 89,405,529 (GRCm39) N418K probably benign Het
Shmt2 T C 10: 127,353,668 (GRCm39) D499G probably benign Het
Slc25a46 A G 18: 31,716,293 (GRCm39) L403S probably damaging Het
Slc5a1 A G 5: 33,303,955 (GRCm39) T257A probably benign Het
Snrnp35 T C 5: 124,628,535 (GRCm39) V116A probably benign Het
Spag9 T A 11: 93,981,538 (GRCm39) F593I probably damaging Het
Tmem171 C A 13: 98,828,574 (GRCm39) R192L probably benign Het
Trappc3l T A 10: 33,978,703 (GRCm39) L169Q unknown Het
Ube2s T C 7: 4,811,431 (GRCm39) E148G probably damaging Het
Uspl1 T C 5: 149,146,521 (GRCm39) F424S probably damaging Het
Vmn1r2 T C 4: 3,172,261 (GRCm39) V60A probably benign Het
Wdfy4 T C 14: 32,829,575 (GRCm39) probably null Het
Zfp735 C T 11: 73,602,964 (GRCm39) S636L possibly damaging Het
Zswim9 G A 7: 12,995,094 (GRCm39) S354F probably damaging Het
Other mutations in Edaradd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Edaradd APN 13 12,498,480 (GRCm39) critical splice donor site probably null
IGL01344:Edaradd APN 13 12,493,371 (GRCm39) missense probably damaging 1.00
IGL01533:Edaradd APN 13 12,493,463 (GRCm39) splice site probably benign
achtung UTSW 13 12,493,378 (GRCm39) missense probably damaging 1.00
cornmuffin UTSW 13 12,493,323 (GRCm39) missense probably damaging 1.00
gizmo UTSW 13 0 () unclassified
R4649:Edaradd UTSW 13 12,523,304 (GRCm39) missense probably damaging 1.00
R5994:Edaradd UTSW 13 12,493,377 (GRCm39) missense probably damaging 1.00
R6496:Edaradd UTSW 13 12,493,323 (GRCm39) missense probably damaging 1.00
R7438:Edaradd UTSW 13 12,493,338 (GRCm39) missense probably damaging 1.00
R8388:Edaradd UTSW 13 12,498,484 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- CGTGTCTTTCCAAAAGCTGCC -3'
(R):5'- TGGATCCATGTCACCCAAC -3'

Sequencing Primer
(F):5'- CTTATCCTGAAAACCTTAGGAGCAGG -3'
(R):5'- CCGTGAAGAACTGGAGGAATTTTGC -3'
Posted On 2016-11-09