Mutagenetix > Incidental Mutation

Incidental Mutation 'R3820:Edar'

274862

Institutional Source

Beutler Lab

Gene Symbol

Edar

Ensembl Gene

ENSMUSG00000003227

Gene Name

ectodysplasin-A receptor

Synonyms

MMRRC Submission

040882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R3820 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58436611-58511476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58457185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 131 (Y131C)

Ref Sequence

ENSEMBL: ENSMUSP00000003312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003312]

AlphaFold

Q9R187

Predicted Effect

probably damaging
Transcript: ENSMUST00000003312
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: Y131C

Domain	Start	End	E-Value	Type
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

0.5306

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

96% (47/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	T	18: 6,630,166 (GRCm39)		probably null	Het
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Adam6a	T	C	12: 113,507,798 (GRCm39)	I57T	probably benign	Het
Adam6b	C	T	12: 113,453,984 (GRCm39)	T267I	probably benign	Het
Ap1g2	G	A	14: 55,338,030 (GRCm39)		probably benign	Het
Arhgap22	G	A	14: 33,089,378 (GRCm39)	E455K	probably benign	Het
Bltp1	G	A	3: 37,094,583 (GRCm39)	V917I	probably damaging	Het
Ccdc93	T	C	1: 121,389,969 (GRCm39)	I253T	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Eif5	A	T	12: 111,506,618 (GRCm39)	R43*	probably null	Het
Eml4	C	A	17: 83,780,494 (GRCm39)	T667K	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,636,827 (GRCm39)		probably benign	Het
Frem2	T	A	3: 53,424,270 (GRCm39)	I3056F	probably damaging	Het
Hivep1	A	T	13: 42,337,787 (GRCm39)	H2622L	possibly damaging	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Kcnma1	T	C	14: 23,350,006 (GRCm39)	T1178A	possibly damaging	Het
Kcnt1	A	G	2: 25,790,904 (GRCm39)	H486R	probably damaging	Het
Kif21a	T	C	15: 90,852,277 (GRCm39)	N950S	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lrrc4b	T	A	7: 44,111,982 (GRCm39)	V618E	probably damaging	Het
Micall2	C	T	5: 139,701,611 (GRCm39)	G461D	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Pds5a	A	G	5: 65,811,419 (GRCm39)	V338A	possibly damaging	Het
Pds5b	T	C	5: 150,659,802 (GRCm39)	V255A	possibly damaging	Het
Prkar2a	T	G	9: 108,624,155 (GRCm39)	F391V	probably damaging	Het
Prr14l	A	G	5: 32,986,328 (GRCm39)	C1056R	probably damaging	Het
Ptpn23	A	G	9: 110,218,862 (GRCm39)		probably benign	Het
Serpinb5	T	A	1: 106,802,802 (GRCm39)	Y112*	probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdrd5	A	G	1: 156,113,053 (GRCm39)	V409A	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Trpm3	A	T	19: 22,964,813 (GRCm39)	N1436I	probably benign	Het
Unc13c	A	T	9: 73,838,240 (GRCm39)	S870R	probably benign	Het
Vmn2r16	C	T	5: 109,510,143 (GRCm39)	P509S	probably benign	Het
Vmn2r60	A	T	7: 41,785,125 (GRCm39)	E112D	probably damaging	Het
Xpnpep1	G	A	19: 52,992,250 (GRCm39)		probably benign	Het
Zfp729a	A	T	13: 67,769,438 (GRCm39)	C264S	probably damaging	Het
Zmynd8	T	A	2: 165,657,381 (GRCm39)	K521*	probably null	Het

Other mutations in Edar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACTCCAAGGGGAAGTTCTTTG -3'
(R):5'- CCACTTTAGGGCATACTAAACATCC -3'

Sequencing Primer
(F):5'- ACTCCAAGGGGAAGTTCTTTGATTTC -3'
(R):5'- CCCCAAGGAATTGAGGGGGTC -3'

Posted On

2015-04-02