Mutagenetix > Incidental Mutation

Incidental Mutation 'R5311:Edar'

404854

Institutional Source

Beutler Lab

Gene Symbol

Edar

Ensembl Gene

ENSMUSG00000003227

Gene Name

ectodysplasin-A receptor

Synonyms

MMRRC Submission

042894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R5311 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58436611-58511476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58443257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 290 (P290S)

Ref Sequence

ENSEMBL: ENSMUSP00000003312 (fasta)

Gene Model

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

AlphaFold

Q9R187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003312
AA Change: P290S

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003312
Gene: ENSMUSG00000003227
AA Change: P290S

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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
Ap5z1	A	G	5: 142,453,442 (GRCm39)	K137E	possibly damaging	Het
Atm	A	C	9: 53,429,923 (GRCm39)	V371G	probably benign	Het
Cacna2d3	A	G	14: 29,068,987 (GRCm39)	Y247H	probably damaging	Het
Ccdc180	T	C	4: 45,917,556 (GRCm39)	V927A	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ext2	T	C	2: 93,526,606 (GRCm39)	I677V	probably benign	Het
Fam53a	A	G	5: 33,765,080 (GRCm39)	S209P	probably damaging	Het
Fshr	A	T	17: 89,318,441 (GRCm39)		probably null	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gm14295	A	T	2: 176,502,465 (GRCm39)	I652L	probably benign	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Gm5431	T	A	11: 48,779,716 (GRCm39)	E402V	probably damaging	Het
Gm6899	GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC	GGAGGCCGCCCAGTGGCAGAGGC	11: 26,543,725 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,115,346 (GRCm39)	D342G	probably benign	Het
Lgi2	A	T	5: 52,711,827 (GRCm39)	D164E	probably damaging	Het
Lrriq1	A	G	10: 103,050,448 (GRCm39)	I768T	probably damaging	Het
Map1a	C	A	2: 121,132,868 (GRCm39)	A990E	probably damaging	Het
Mdh1b	A	G	1: 63,759,163 (GRCm39)	V143A	probably benign	Het
Mrgprb3	C	T	7: 48,293,059 (GRCm39)	C164Y	probably damaging	Het
Mtpap	T	A	18: 4,386,328 (GRCm39)	V316E	probably damaging	Het
Mybpc3	T	A	2: 90,959,023 (GRCm39)	C655*	probably null	Het
Myh15	A	G	16: 48,986,204 (GRCm39)	E1558G	possibly damaging	Het
Mylk	A	G	16: 34,742,127 (GRCm39)	T880A	probably benign	Het
Nckap1	T	A	2: 80,370,466 (GRCm39)	D408V	probably damaging	Het
Nos3	A	T	5: 24,582,343 (GRCm39)	H605L	probably benign	Het
Nrxn2	C	A	19: 6,581,428 (GRCm39)	D411E	probably benign	Het
Or1af1	T	C	2: 37,109,633 (GRCm39)	V44A	probably benign	Het
Or8j3b	T	A	2: 86,205,094 (GRCm39)	I221L	possibly damaging	Het
Pde4d	C	A	13: 109,769,398 (GRCm39)	P29T	probably benign	Het
Pde4d	C	T	13: 109,769,399 (GRCm39)	P29L	probably benign	Het
Pkhd1	A	G	1: 20,636,094 (GRCm39)	V412A	possibly damaging	Het
Rev1	T	A	1: 38,118,474 (GRCm39)	I480L	probably benign	Het
Rimbp3	A	G	16: 17,028,708 (GRCm39)	T711A	probably benign	Het
RP23-191E1.1	T	A	3: 106,204,784 (GRCm39)		noncoding transcript	Het
Serpina11	A	T	12: 103,952,221 (GRCm39)	I183N	probably damaging	Het
Siglec1	T	C	2: 130,921,236 (GRCm39)	H645R	probably damaging	Het
Skint7	G	A	4: 111,837,501 (GRCm39)	R93H	probably damaging	Het
Slfn8	T	C	11: 82,894,910 (GRCm39)	E632G	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Trps1	G	A	15: 50,528,156 (GRCm39)	T658I	probably damaging	Het
Ubash3a	A	G	17: 31,438,691 (GRCm39)	T287A	probably damaging	Het
Ugt2b35	G	A	5: 87,159,139 (GRCm39)	W444*	probably null	Het
Vmn1r219	T	A	13: 23,347,063 (GRCm39)	V84D	probably damaging	Het
Vmn2r10	T	C	5: 109,154,121 (GRCm39)	Y61C	probably damaging	Het
Vmn2r104	G	A	17: 20,250,163 (GRCm39)	P703S	probably damaging	Het
Wdsub1	T	A	2: 59,708,873 (GRCm39)		probably benign	Het
Zfp667	A	G	7: 6,308,715 (GRCm39)	Q461R	probably benign	Het
Zfp941	C	A	7: 140,391,872 (GRCm39)	G496*	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
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
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'- TGCCCTAAGGAGCTTATTCAAC -3'
(R):5'- GTCAGGAAACAGGATGTGCC -3'

Sequencing Primer
(F):5'- GCCCTAAGGAGCTTATTCAACATAAG -3'
(R):5'- CCTTACCTAGAGCTCATAATGTGTAG -3'

Posted On

2016-07-22